Pediatric Neurosurgery

SMAD6

SMAD6

(SMAD Family Member 6) is a Protein Coding gene.

It belongs to the SMAD family of signaling molecules. It acts as an inhibitory SMAD, meaning that it negatively regulates signaling pathways activated by transforming growth factor-beta (TGF-beta) and bone morphogenetic proteins (BMPs). SMAD6 plays a role in various biological processes such as cell proliferation, differentiation, and apoptosis,

SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signaling pathway. Until now, SMAD6 deficiency has been associated with three distinctive human congenital conditions, i.e., congenital heart diseases, including left ventricular obstruction and conotruncal defects, craniosynostosis, and radioulnar synostosis. Intriguingly, a similar spectrum of heterozygous loss-of-function variants has been reported to cause these clinically distinct disorders without a genotype-phenotype correlation. Even identical nucleotide changes have been described in patients with either a cardiovascular phenotype, craniosynostosis or radioulnar synostosis. These findings suggest that the primary pathogenic variant alone cannot explain the resultant patient phenotype 1).

SMAD6 mutations led to poorer mathematics, performance intelligence quotient, full-scale intelligence quotient, and motor coordination, even after controlling for exogenous factors. Genetic testing may be critical for advocating early adjunctive neurodevelopmental therapy 2)

Mechanisms to explain the remarkable diversity of phenotypes associated with SMAD6 variants remain obscure 3).

Among 101 infants tested in the Department of Pediatric Neurosurgery, French Referral Center for Craniosynostosis, Hôpital Femme Mère-Enfant Hospices Civils de Lyon, University of Lyon, Department of Genetics, Lyon University Hospitals, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Department of Pediatric Cranio-Maxillo-Facial Surgery, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon 1, Lyon, and Department of Genetics, Robert Debré Hospital, Inserm 1132, Université de Paris Cité, Paris, France, 13 carried a total of 13 variants; that is, 12.9% of the infants carried a variant in genes known to be involved in craniosynostosis. Seven infants carried SMAD6 variants, 2 in FGFR2, 1 in TWIST1, one in FREM1, one in ALX4, and one in TCF12. All variants were detected at the heterozygous level in genes associated with autosomal dominant craniosynostosis. Also, neurodevelopmental testing showed especially delayed acquisition of language in children with than without variants in SMAD6. In conclusion, a high percentage of young children with isolated midline craniosynostosis, especially in isolated trigonocephaly, carried SMAD6 variants. The interpretation of the pathogenicity of the genes must take into account incomplete penetrance, usually observed in craniosynostosis. The results highlight the interest in molecular analysis in the context of isolated sagittal and/or metopic craniosynostosis to enhance an understanding of the pathophysiology of midline craniosynostosis 4).

1)

Luyckx I, Verstraeten A, Goumans MJ, Loeys B. SMAD6-deficiency in human genetic disorders. NPJ Genom Med. 2022 Nov 21;7(1):68. doi: 10.1038/s41525-022-00338-5. PMID: 36414630; PMCID: PMC9681871.
2)

Wu RT, Timberlake AT, Abraham PF, Gabrick KS, Lu X, Peck CJ, Sawh-Martinez RF, Steinbacher DM, Alperovich MA, Persing JA. SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis. Plast Reconstr Surg. 2020 Jan;145(1):117e-125e. doi: 10.1097/PRS.0000000000006319. PMID: 31592950.
3)

Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium; Boyadjiev SA, Wilkie AOM. SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5. Erratum in: Genet Med. 2020 Jul 7;: PMID: 32499606; PMCID: PMC7462747.
4)

Di Rocco F, Rossi M, Verlut I, Szathmari A, Beuriat PA, Chatron N, Chauvel-Picard J, Mottolese C, Monin P, Vinchon M, Guernouche S, Collet C. Clinical interest of molecular study in cases of isolated midline craniosynostosis. Eur J Hum Genet. 2023 Feb 3. doi: 10.1038/s41431-023-01295-y. Epub ahead of print. PMID: 36732661.

Cerebellar mutism

Cerebellar mutism

Cerebellar mutism (CM) was first described by Rekate et al. in 1985 following posterior fossa surgery in children 1) ;since then, it has increasingly been reported, mainly occurring as a postoperative complication.

Posterior fossa syndrome (PFS) and cerebellar mutism are often used interchangeably in the literature.

Epidemiology

Incidence of cerebellar mutism: 11–29% of children following surgery for cerebellar tumors 2) including cerebellar medulloblastoma (53%), posterior fossa ependymoma (33%) & cerebellar pilocytic astrocytoma (11%) 3).

Etiology

It has also been reported in both children and adults following several other cerebellar insults, including vascular events, infections, and trauma 4).

The uncertain etiology of PFS, myriad of cited risk factors and therapeutic challenges make this phenomenon an elusive entity.

Risk Factors

Cerebellar mutism risk factors

Posttraumatic cerebellar mutism

Cerebellar mutism is a rare occurrence following paediatric trauma 5) 6) 7) 8). , this phenomenon has rarely been reported following other insults, such as trauma, and its pathophysiology remains poorly understood.

A seven-year-old child who presented to the casualty department of Sultan Qaboos University Hospital in Muscat, Oman, in May 2013 with a traumatic right cerebellar contusion. The child presented with clinical features of cerebellar mutism but underwent a rapid and spontaneous recovery 9).

Pathophysiology

Cerebellar mutism Pathophysiology.

Pathogenesis

The pathogenic mechanism is likely due to the damage occurring to the proximal efferent cerebellar pathway, including the dentate nucleus, the superior cerebellar peduncle, and its decussation in the mesencephalic tegmentum 10).

Superior and inferior cerebellar peduncles and the superior part of the cerebellum were related to CMS, especially the right side 11).

Clinical features

This syndrome involves a variety of signs and symptoms including cerebellar mutism or speech disturbances, dysphagia, decreased motor movement, cranial nerve palsy and, emotional lability. These signs and symptoms develop from an average range of 24 to 107 hours after surgery and may take weeks to months to resolve.

Diagnosis

Multi-inflow time arterial spin-labeling shows promise as a noninvasive tool to evaluate cerebral perfusion in the setting of pediatric obstructive hydrocephalus and demonstrates increased CBF following the resolution of cerebellar mutism syndrome 12).

Differential diagnosis

The importance of olivary hypertrophic degeneration as a differential diagnosis in cerebellar mutism syndrome 13).

Prevention

Cerebellar mutism prevention.

Outcome

Early recognition of this syndrome could facilitate preventive and restorative patient care, prevent subsequent complications, decrease length of hospital stays, and promote patient and family understanding of and coping with the syndrome 14).

Case series

20 cases of PFS (8%), 12 males and 8 females. Age ranged from 1.5 to 13 years (mean = 6.5). Of the 20, 16 were medulloblastoma, 3 ependymoma and 1 astrocytoma. There was a 21 % incidence (16/76) of PFS in medulloblastoma of the posterior fossa. The incidence for ependymoma was 13% (3/24) and 1% (1/102) for astrocytoma. All 20 cases (100%) had brainstem involvement by the tumor. The most frequent postoperative findings included mutism, ataxia, 6th and 7th nerve palsies and hemiparesis. Mutism had a latency range of 1-7 days (mean = 1.7) and a duration of 6-365 days (mean = 69.2, median = 35). Although mutism resolved in all cases, the remaining neurologic complications which characterized our findings of PFS were rarely reversible. We describe potential risk factors for developing PFS after surgery with hopes of making neurosurgeons more aware of potential problems following the removal of lesions in this area. Early recognition of PFS would further promote patient and family understanding and coping with this síndrome 15)

19 children diagnosed with posterior fossa syndrome 16)

Case reports

Cerebellar mutism case reports.

1)

Rekate HL, Grubb RL, Aram DM, Hahn JF, Ratcheson RA. Muteness of cerebellar origin. Arch Neurol. 1985;42:697–8. doi: 10.1001/archneur.1985.04060070091023.
2)

Gudrunardottir T, Sehested A, Juhler M, et al. Cerebellar mutism: review of the literature. Childs Nerv Syst. 2011; 27:355–363
3)

Catsman-Berrevoets C E, Van Dongen HR, Mulder PG, et al. Tumour type and size are high risk factors for the syndrome of “cerebellar” mutism and subsequent dysarthria. J Neurol Neurosurg Psychiatry. 1999; 67:755–757
4)

Gudrunardottir T, Sehested A, Juhler M, Schmiegelow K. Cerebellar mutism: Review of the literature. Childs Nerv Syst. 2011;27:355–63. doi: 10.1007/s00381-010-1328-2.
5)

Erşahin Y, Mutluer S, Saydam S, Barçin E. Cerebellar mutism: Report of two unusual cases and review of the literature. Clin Neurol Neurosurg. 1997;99:130–4. doi: 10.1016/S0303-8467(97)80010-8.
6)

Fujisawa H, Yonaha H, Okumoto K, Uehara H, le T, Nagata Y, et al. Mutism after evacuation of acute subdural hematoma of the posterior fossa. Childs Nerv Syst. 2005;21:234–6. doi: 10.1007/s00381-004-0999-y.
7)

Koh S, Turkel SB, Baram TZ. Cerebellar mutism in children: Report of six cases and potential mechanisms. Pediatr Neurol. 1997;16:218–19. doi: 10.1016/S0887-8994(97)00018-0.
8)

Yokota H, Nakazawa S, Kobayashi S, Taniguchi Y, Yukihide T. [Clinical study of two cases of traumatic cerebellar injury] No Shinkei Geka. 1990;18:67–70.
9)

Kariyattil R, Rahim MI, Muthukuttiparambil U. Cerebellar mutism following closed head injury in a child. Sultan Qaboos Univ Med J. 2015 Feb;15(1):e133-5. Epub 2015 Jan 21. PubMed PMID: 25685374; PubMed Central PMCID: PMC4318595.
10)

Fabozzi F, Margoni S, Andreozzi B, Musci MS, Del Baldo G, Boccuto L, Mastronuzzi A, Carai A. Cerebellar mutism syndrome: From pathophysiology to rehabilitation. Front Cell Dev Biol. 2022 Dec 2;10:1082947. doi: 10.3389/fcell.2022.1082947. PMID: 36531947; PMCID: PMC9755514.
11)

Yang W, Li Y, Ying Z, Cai Y, Peng X, Sun H, Chen J, Zhu K, Hu G, Peng Y, Ge M. A presurgical voxel-wise predictive model for cerebellar mutism syndrome in children with posterior fossa tumors. Neuroimage Clin. 2022 Dec 13;37:103291. doi: 10.1016/j.nicl.2022.103291. Epub ahead of print. PMID: 36527996; PMCID: PMC9791171.
12)

Toescu SM, Hales PW, Cooper J, Dyson EW, Mankad K, Clayden JD, Aquilina K, Clark CA. Arterial Spin-Labeling Perfusion Metrics in Pediatric Posterior Fossa Tumor Surgery. AJNR Am J Neuroradiol. 2022 Oct;43(10):1508-1515. doi: 10.3174/ajnr.A7637. Epub 2022 Sep 22. PMID: 36137658; PMCID: PMC9575521.
13)

Ballestero M, de Oliveira RS. The importance of olivary hypertrophic degeneration as a differential diagnosis in cerebellar mutism syndrome. Childs Nerv Syst. 2022 Dec 21. doi: 10.1007/s00381-022-05815-x. Epub ahead of print. PMID: 36542117.
14) , 16)

Kirk EA, Howard VC, Scott CA. Description of posterior fossa syndrome in children after posterior fossa brain tumor surgery. J Pediatr Oncol Nurs. 1995 Oct;12(4):181-7. PubMed PMID: 7495523.
15)

Doxey D, Bruce D, Sklar F, Swift D, Shapiro K. Posterior fossa syndrome: identifiable risk factors and irreversible complications. Pediatr Neurosurg. 1999 Sep;31(3):131-6. PubMed PMID: 10708354.

Anterior sacral meningocele

Anterior sacral meningocele

Anterior sacral meningoceles are congenital lesions that consist of a spinal fluid-filled sac in the pelvis communicating by a small neck with the spinal subarachnoid space through a defect in the sacrum. They protrude into retroperitoneal and presacral space. 1) 2).

The wall of the sac consists of two layers, an inner arachnoid membrane and outer dura mater, which extends into the retroperitoneal presacral space from the sacral spinal canal 3).

Anterior sacral meningocele was first described in 1837 as a part of neural tube defect (NTD) spectrum.

It may be associated with a syndrome like Currarino syndrome 4) which includes anorectal malformations, sacral bony defect and presacral mass; and Marfan syndrome wherein the etiology may be disorder of collagen biosynthesis and structure at the dural level 5).

Epidemiology

Anterior sacral meningocele epidemiology

Anterior sacral meningocele in Marfan syndrome

Anterior sacral meningocele in Marfan syndrome

Classification

Anterior sacral meningocele classification.

Etiology

Anterior sacral meningocele etiology.

Pathology

Associated malformations are found:

spina bifida

spinal dysraphism

bicornuate uterus

imperforate anus 6).

Clinical features

Anterior sacral meningocele clinical features.

Diagnosis

Anterior sacral meningocele diagnosis.

Differential diagnosis

Anterior sacral meningocele differential diagnosis.

Complications

Anterior sacral meningocele complications.

Treatment

Anterior Sacral Meningocele Treatment.

Case reports

Anterior sacral meningocele case reports.

1)

Villarejo F, Scavone C, Blazquez MG, Pascual-Castroviejo I, Perez-Higueras A, Fernandez-Sanchez A, Garcia Bertrand C. Anterior sacral meningocele: review of the literature. Surg Neurol. 1983 Jan;19(1):57-71. doi: 10.1016/0090-3019(83)90212-4. PMID: 6828997.
2)

Sharma V, Mohanty S, Singh DR. Uncommon craniospinal dysraphism. Ann Acad Med Singap. 1996 Jul;25(4):602-8. PMID: 8893940.
3)

Somuncu S, Aritürk E, Iyigün O, Bernay F, Rizalar R, Günaydin M, Gürses N. A case of anterior sacral meningocele totally excised using the posterior sagittal approach. J Pediatr Surg. 1997 May;32(5):730-2. doi: 10.1016/s0022-3468(97)90018-x. PMID: 9165463.
4)

CALIHAN RJ. Anterior sacral meningocele. Radiology. 1952 Jan;58(1):104-8. doi: 10.1148/58.1.104. PMID: 14883380.
5)

North RB, Kidd DH, Wang H. Occult, bilateral anterior sacral and intrasacral meningeal and perineurial cysts: case report and review of the literature. Neurosurgery. 1990 Dec;27(6):981-6. doi: 10.1097/00006123-199012000-00020. PMID: 2274142.
6)

Dahan H, Arrivé L, Wendum D, Docou le Pointe H, Djouhri H, Tubiana JM. Retrorectal developmental cysts in adults: clinical and radiologic-histopathologic review, differential diagnosis, and treatment. Radiographics. 2001 May-Jun;21(3):575-84. doi: 10.1148/radiographics.21.3.g01ma13575. PMID: 11353107.

Cerebellar pilocytic astrocytoma

Cerebellar pilocytic astrocytoma

Latest news

Key concepts

● Often cystic, half of these have a mural nodule.

● Usually presents during the second decade of life (ages 10–20 yrs).

● A subtype of pilocytic astrocytoma. Formerly referred to by the nonspecific and confusing term cystic cerebellar astrocytoma.

Epidemiology

Cerebellar pilocytic astrocytoma epidemiology.

Classification

Children

see Cerebellar pilocytic astrocytoma in children.

Adult

Cerebellar pilocytic astrocytomas in adults should be treated with macroscopic complete surgical resection whenever possible. If this is achieved, long-term survival rates are excellent, whereas subtotal resection carries a high risk of tumor recurrence. Ki67 is less important prognostically than the extent of initial resection 1).

Clinical features

In the posterior fossa tumors, there is predominantly a mass effect with signs of raised intracranial pressure, especially when hydrocephalus is present. Bulbar palsy or cerebellar syndrome may also be present.

Diagnosis

Cerebellar pilocytic astrocytoma diagnosis.

Differential diagnosis

Cerebellar pilocytic astrocytoma differential diagnosis.

Treatment

see Cerebellar pilocytic astrocytoma treatment.

Outcome

Nine percent of the children in a study underwent repeated surgery due to progressive tumor recurrence, and 15% were treated for persistent hydrocephalus 2).

The long-term functional outcome of low-grade cerebellar astrocytoma is generally favourable, in the absence of post-operative complications and brainstem involvement. No major impact of neurological deficits, cognitive functions and emotional disorders on academic achievement and independent functioning was observed 3).

The good long-term outcomes suggest that it may be appropriate to do incomplete resection rather than risk additional neurological deficit 4).

There is controversy about whether patients with tumor remaining after surgery should receive radiation therapy. It is also unclear whether only patients with incomplete resection require follow-up and for how long 5).

Complications

Acute hemorrhagic presentation in pilocytic astrocytomas (PAs) has become increasingly recognized. This type of presentation poses a clinically emergent situation in those hemorrhages arising in PAs of the cerebellum, the most frequent site, because of the limited capacity of the posterior fossa to compensate for mass effect, predisposing to rapid neurological deterioration.

Complete resection

Complete resection of cerebellar astrocytoma is an important prognostic factor, indicating a more favorable prognosis than subtotal resection. This was also the conclusion of a much larger study by Villarejo et al. who reviewed 203 cases of low-grade cerebellar astrocytoma 6).

Loh et al., documented that patients with subtotal removal of cerebellar astrocytoma can have arrested tumor growth or spontaneous tumor regression during long-term follow-up. Following partial resection of pediatric cerebellar astrocytoma, they recommend that the patients be followed up a “wait and see” approach with surveillance using MRI. They found that several tumors treated with radiotherapy after surgery had malignant transformation and do not recommend adjuvant radiation treatment for children with cerebellar astrocytoma who have subtotal resection. More research is needed on the prognosis of patients with subtotal resection of cerebellar astrocytoma 7).

Pilomyxoid features and anaplasia

A subset may behave in a more aggressive fashion and clinically progress despite the use of conventional treatments. Histologic features associated with a more aggressive course include the presence of monomorphous pilomyxoid features (ie, pilomyxoid variant) and anaplasia in the form of brisk mitotic activity with or without necrosis 8).

Case series

Cerebellar pilocytic astrocytoma case series.

Case reports

Cerebellar pilocytic astrocytoma case reports.

References

1) 

Wade A, Hayhurst C, Amato-Watkins A, Lammie A, Leach P. Cerebellar pilocytic astrocytoma in adults: a management paradigm for a rare tumour. Acta Neurochir (Wien). 2013 Aug;155(8):1431-5. doi: 10.1007/s00701-013-1790-1. Epub 2013 Jun 22. PubMed PMID: 23793962.

2) 

Due-Tønnessen BJ, Lundar T, Egge A, Scheie D. Neurosurgical treatment of low-grade cerebellar astrocytoma in children and adolescents: a single consecutive institutional series of 100 patients. J Neurosurg Pediatr. 2013 Mar;11(3):245-9. doi: 10.3171/2012.11.PEDS12265. Epub 2012 Dec 14. PubMed PMID: 23240848.

3) 

Ait Khelifa-Gallois N, Laroussinie F, Puget S, Sainte-Rose C, Dellatolas G. Long-term functional outcome of patients with cerebellar pilocytic astrocytoma surgically treated in childhood. Brain Inj. 2014 Nov 10:1-8. [Epub ahead of print] PubMed PMID: 25383654.

4) 

Steinbok P, Mangat JS, Kerr JM, Sargent M, Suryaningtyas W, Singhal A, Cochrane D. Neurological morbidity of surgical resection of pediatric cerebellar astrocytomas. Childs Nerv Syst. 2013 Aug;29(8):1269-75. doi: 10.1007/s00381-013-2171-z. Epub 2013 May 29. PubMed PMID: 23715810.

5) 

Dirven CM, Mooij JJ, Molenaar WM. Cerebellar pilocytic astrocytoma: a treatment protocol based upon analysis of 73 cases and a review of the literature. Childs Nerv Syst. 1997;13:17–23. doi: 10.1007/s003810050033.

6) 

Villarejo F, Diego JMB, Riva AG. Prognosis of cerebellar astrocytoma in children. Childs Nerv Syst. 2008;24:203–210. doi: 10.1007/s00381-007-0449-8.

7) 

Loh JK, Lieu AS, Chai CY, Hwang SL, Kwan AL, Wang CJ, Howng SL. Arrested growth and spontaneous tumor regression of partially resected low-grade cerebellar astrocytomas in children. Childs Nerv Syst. 2013 Nov;29(11):2051-5. doi: 10.1007/s00381-013-2113-9. Epub 2013 May 1. PubMed PMID: 23632690; PubMed Central PMCID: PMC3825417.

8) 

Rodriguez FJ, Scheithauer BW, Burger PC, Jenkins S, Giannini C. Anaplasia in pilocytic astrocytoma predicts aggressive behavior. Am J Surg Pathol. 2010;34(2):147–160.

Pediatric traumatic brain injury outcome

Pediatric traumatic brain injury outcome

see also Traumatic brain injury outcome.

Latest articles

Neuropsychological and behavioral outcomes for injured children vary with the severity of the injury, child age at injury, premorbid child characteristics, family factors, and the family’s socioeconomic status. Each of these factors needs to be taken into account when designing rehabilitation strategies and assessing factors related to outcomes 1)

The Functional Status Score (FSS) can be implemented as part of routine practice in two different healthcare systems and the relationships observed between the FSS and patient characteristics can serve as a baseline for work going forward in the coming years. As a field, establishing which outcomes tests can be readily administered while also measuring relevant outcomes for various populations of children with TBI is an essential next step in developing therapies for this disorder that is highly prevalent and morbid 2).

The multi-center, prospectively collected CENTER-TBI core and registry databases were screened and patients were included when younger than 18 years at enrollment and admitted to the regular ward (admission stratum) or intensive care unit (ICU stratum) following TBI. Patient demographics, injury causes, clinical findings, brain CT imaging details, and outcome (GOSE at 6 months follow-up) were retrieved and analyzed. Injury characteristics were compared between patients admitted to the regular ward and ICU and a multivariate analysis of factors predicting an unfavorable outcome (GOSE 1-4) was performed. Results from the core study were compared to the registry dataset which includes larger patient numbers but no follow-up data. Results: Two hundred and twenty-seven patients in the core dataset and 687 patients in the registry dataset were included in this study. In the core dataset, road-traffic incidents were the most common cause of injury overall and in the ICU stratum, while incidental falls were most common in the admission stratum. Brain injury was considered serious to severe in the majority of patients and concurrent injuries in other body parts were very common. Intracranial abnormalities were detected in 60% of initial brain CTs. Intra- and extracranial surgical interventions were performed in one-fifth of patients. The overall mortality rate was 3% and the rate of unfavorable outcomes was 10%, with those numbers being considerably higher among ICU patients. GCS and the occurrence of secondary insults could be identified as independent predictors of an unfavorable outcome 3).

There are few specific prognostic models specifically developed for the pediatric traumatic brain injury (TBI) population.

Fang et al. aimed to combine multiple machine learning approaches to building hybrid models for predicting the prognosis and length of hospital stay for adults and children with TBI.

They collected relevant clinical information from patients treated at the Neurosurgery Center of the Second Affiliated Hospital of Anhui Medical University between May 2017 and May 2022, of which 80% was used for training the model and 20% for testing via screening and data splitting. They trained and tested the machine learning models using 5 cross-validations to avoid overfitting. In the machine learning models, 11 types of independent variables were used as input variables and the Glasgow Outcome Scale score, was used to evaluate patients’ prognosis, and patient length of stay was used as the output variable. Once the models were trained, we obtained and compared the errors of each machine-learning model from 5 rounds of cross-validation to select the best predictive model. The model was then externally tested using clinical data of patients treated at the First Affiliated Hospital of Anhui Medical University from June 2021 to February 2022.

Results: The final convolutional neural network-support vector machine (CNN-SVM) model predicted the Glasgow Outcome Scale score with an accuracy of 93% and 93.69% in the test and external validation sets, respectively, and an area under the curve of 94.68% and 94.32% in the test and external validation sets, respectively. The mean absolute percentage error of the final built convolutional neural network-support vector regression (CNN-SVR) model predicting inpatient time in the test set and external validation set was 10.72% and 10.44%, respectively. The coefficient of determination (R2) was 0.93 and 0.92 in the test set and external validation set, respectively. Compared with a back-propagation neural network, CNN, and SVM models built separately, our hybrid model was identified to be optimal and had high confidence.

This study demonstrates the clinical utility of 2 hybrid models built by combining multiple machine learning approaches to accurately predict the prognosis and length of stay in hospital for adults and children with TBI. Application of these models may reduce the burden on physicians when assessing TBI and assist clinicians in the medical decision-making process 4).

Mikkonen et al., tested the predictive performance of existing prognostic tools, originally developed for the adult TBI population, in pediatric TBI patients requiring stays in the ICU.

They used the Finnish Intensive Care Consortium database to identify pediatric patients (< 18 years of age) treated in 4 academic ICUs in Finland between 2003 and 2013. They tested the predictive performance of 4 classification systems-the International Mission for Prognosis and Analysis of Clinical Trials (IMPACT) TBI model, the Helsinki CT score, the Rotterdam CT score, and the Marshall CT classification-by assessing the area under the receiver operating characteristic curve (AUC) and the explanatory variation (pseudo-R2 statistic). The primary outcome was 6-month functional outcome (favorable outcome defined as a Glasgow Outcome Scale score of 3-5).

Overall, 341 patients (median age 14 years) were included; of these, 291 patients had primary head CT scans available. The IMPACT core-based model showed an AUC of 0.85 (95% CI 0.78-0.91) and a pseudo-R2 value of 0.40. Of the CT scoring systems, the Helsinki CT score displayed the highest performance (AUC 0.84, 95% CI 0.78-0.90; pseudo-R2 0.39) followed by the Rotterdam CT score (AUC 0.80, 95% CI 0.73-0.86; pseudo-R2 0.34).

Prognostic tools originally developed for the adult TBI population seemed to perform well in pediatric TBI. Of the tested CT scoring systems, the Helsinki CT score yielded the highest predictive value 5).

1)

Keenan HT, Bratton SL. Epidemiology and outcomes of pediatric traumatic brain injury. Dev Neurosci. 2006;28(4-5):256-63. doi: 10.1159/000094152. PMID: 16943649.
2)

Bell MJ. Outcomes for Children With Traumatic Brain Injury-How Can the Functional Status Scale Contribute? Pediatr Crit Care Med. 2016 Dec;17(12):1185-1186. doi: 10.1097/PCC.0000000000000950. PMID: 27918390; PMCID: PMC5142208.
3)

Riemann L, Zweckberger K, Unterberg A, El Damaty A, Younsi A; Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Investigators and Participants. Injury Causes and Severity in Pediatric Traumatic Brain Injury Patients Admitted to the Ward or Intensive Care Unit: A Collaborative European Neurotrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Study. Front Neurol. 2020 Apr 30;11:345. doi: 10.3389/fneur.2020.00345. PMID: 32425879; PMCID: PMC7205018.
4)

Fang C, Pan Y, Zhao L, Niu Z, Guo Q, Zhao B. A Machine Learning-Based Approach to Predict Prognosis and Length of Hospital Stay in Adults and Children With Traumatic Brain Injury: Retrospective Cohort Study. J Med Internet Res. 2022 Dec 9;24(12):e41819. doi: 10.2196/41819. PMID: 36485032.
5)

Mikkonen ED, Skrifvars MB, Reinikainen M, Bendel S, Laitio R, Hoppu S, Ala-Kokko T, Karppinen A, Raj R. Validation of prognostic models in intensive care unit-treated pediatric traumatic brain injury patients. J Neurosurg Pediatr. 2019 Jun 7:1-8. doi: 10.3171/2019.4.PEDS1983. [Epub ahead of print] PubMed PMID: 31174193.

ShuntScope

ShuntScope

Autoclavable reusable SHUNTSCOPE® is designed to facilitate the endoscopic ventricular drainage placement during shunt surgery.

Case series

A retrospective analysis of all pediatric patients undergoing ventricular catheter placement using the ShuntScope from 01/2012 to 01/2022 in the Department of Neurosurgery, Saarland University Medical Center, Homburg was performed. Demographic, clinical, and radiological data were evaluated. The visualization quality of the intraoperative endoscopy was stratified into the categories of excellent, medium, and poor and compared to the postoperative catheter tip placement. Follow-up evaluation included the surgical revision rate due to proximal catheter occlusion.

A total of 65 ShuntScope-assisted surgeries have been performed on 51 children. The mean age was 5.1 years. The most common underlying pathology was a tumor- or cyst-related hydrocephalus in 51%. Achieved image quality was excellent in 41.5%, medium in 43%, and poor in 15.5%. Ideal catheter placement was achieved in 77%. There were no intraoperative ventricular catheter placement complications and no technique-related morbidity associated with the ShuntScope. The revision rate due to proximal occlusion was 4.61% during a mean follow-up period of 39.7 years. No statistical correlation between image grade and accuracy of catheter position was observed (p-value was 0.290).

The ShuntScope can be considered a valuable addition to standard surgical tools in pediatric hydrocephalus treatment. Even suboptimal visualization contributes to high rates of correct catheter placement and, thereby, to a favorable clinical outcome 1).

The purpose of the study is to compare the accuracy of catheter placement and the complication and revision rates between SG and freehand (FH) techniques.

A retrospective study based on a prospectively acquired database of patients who underwent VC placement between September 2018 and July 2021. The accuracy of catheter placement was graded on postoperative imaging using a three-point Hayhurst grading system. Complication and revision rates were documented and compared between both groups with an average follow-up period of 20.84 months.

Results: Fifty-seven patients were included. SG technique was used in 29 patients (mean age was 6.3 years, 1.4 -27.7 years, 48.1% females), and FH technique was used in 28 patients (mean age was 26.7 years, 0.83 – 79.5 years, 67.9% female). The success rate for the optimal placement of the VC with a grade I on the Hayhurst scale was significantly higher in the SG group (93.1%) than in the FH group (60.7%), P = 0.012. The revision rate was higher in the FH group with 35.7% vs. 20.7% of in the SG group, P = 0.211.

Conclusion: VC placement using the SG technique is a safe and effective procedure, which enabled a significantly higher success rate and lower revision and complication rate. Accordingly, we recommend using the SG technique especially in patients with difficult anatomy 2)

The experience of shuntscope-guided ventriculoperitoneal shunt in 9 cases done from June 2015 to April 2016. Shuntscope is a 1 mm outer diameter semi-rigid scope from Karl Storz with 10000 pixels of magnification. It has a fiber optic lens system with a camera and light source attachment away from the scope to make it lightweight and easily maneuverable.

Results: In all cases, VC was placed in the ipsilateral frontal horn away from choroid plexuses, septae, or membranes. Septum pellucidum perforation and placement to the opposite side of the ventricle was identified with shunt scope assistance and corrected.

Conclusion: Although our initial results are encouraging, larger case series would be helpful. Complications and cost due to shunt dysfunction can thus be reduced to a great extent with shuntscope 3)

The semi-rigid ShuntScope (Karl Storz GmbH & Co.KG, Tuttlingen, Germany) with an outer diameter of 1.0 mm and an image resolution of 10,000 pixels was used in a series of 27 children and adolescents (18 males, 9 females, age range 2 months-18 years). Indications included catheter placement in aqueductal stenting (n = 4), first-time shunt placement (n = 5), burr hole reservoir insertion (n = 4), catheter placement after endoscopic procedures (n = 7) and revision surgery of the ventricle catheter (n = 7).

ShuntScope-guided precise catheter placement was achieved in 26 of 27 patients. In one case of aqueductal stenting, the procedure had to be abandoned. One single wound healing problem was noted as a complication. Intraventricular image quality was always sufficient to recognize the anatomical structures. In the case of catheter removal, it was helpful to identify adherent vessels or membranes. Penetration of small adhesions or thin membranes was feasible. Postoperative imaging studies demonstrated catheter tip placements analogous to the intraoperative findings.

Misplacements of shunt catheters are completely avoidable with the presented intra-catheter technique including slit ventricles or even aqueductal stenting. Potential complications can be avoided during revision surgery. The implementation of the ShuntScope is recommended in pediatric neurosurgery 4).

Latest articles

1)

Prajsnar-Borak A, Teping F, Oertel J. Image quality and related outcomes of the ShuntScope for catheter implantation in pediatric hydrocephalus-experience of 65 procedures. Childs Nerv Syst. 2022 Dec 2. doi: 10.1007/s00381-022-05776-1. Epub ahead of print. PMID: 36459211.
2)

Issa M, Nofal M, Miotik N, Seitz A, Unterberg A, El Damaty A. ShuntScope®-Guided Versus Free Hand Technique for Ventricular Catheter Placement: A Retrospective Comparative Study of Intra-Ventricular Catheter Tip Position and Complication Rate. J Neurol Surg A Cent Eur Neurosurg. 2022 Feb 10. doi: 10.1055/a-1768-3892. Epub ahead of print. PMID: 35144299.
3)

Agrawal V, Aher RB. Endoluminal Shuntscope-Guided Ventricular Catheter Placement: Early Experience. Asian J Neurosurg. 2018 Oct-Dec;13(4):1071-1073. doi: 10.4103/ajns.AJNS_98_17. PMID: 30459870; PMCID: PMC6208226.
4)

Senger S, Antes S, Salah M, Tschan C, Linsler S, Oertel J. The view through the ventricle catheter – The new ShuntScope for the therapy of pediatric hydrocephalus. J Clin Neurosci. 2018 Feb;48:196-202. doi: 10.1016/j.jocn.2017.10.046. Epub 2017 Nov 6. PubMed PMID: 29102235.

Pediatric Emergency Care Applied Research Network (PECARN)

Pediatric Emergency Care Applied Research Network (PECARN)

see PECARN traumatic brain injury algorithm.

The overuse of CT leads to inefficient care. Therefore, to maximize precision and minimize the overuse of CT, the Pediatric Emergency Care Applied Research Network (PECARN) previously derived clinical prediction rules for identifying children at high risk and very low risk for intra-abdominal trauma undergoing acute intervention and clinically important traumatic brain injury after blunt trauma in large cohorts of children who are injured.

A study aimed to validate the IAI and age-based TBI clinical prediction rules for identifying children at high risk and very low risk for IAIs undergoing acute intervention and clinically important TBIs after blunt trauma.

This was a prospective 6-center observational study of children aged <18 years with the blunt torso or head trauma. Consistent with the original derivation studies, enrolled children underwent a routine history and physical examinations, and the treating clinicians completed case report forms prior to knowledge of CT results (if performed). Medical records were reviewed to determine clinical courses and outcomes for all patients, and for those who were discharged from the emergency department, a follow-up survey via a telephone call or SMS text message was performed to identify any patients with missed IAIs or TBIs. The primary outcomes were IAI undergoing acute intervention (therapeutic laparotomy, angiographic embolization, blood transfusion, or intravenous fluid for ≥2 days for pancreatic or gastrointestinal injuries) and clinically important TBI (death from TBI, neurosurgical procedure, intubation for >24 hours for TBI, or hospital admission of ≥2 nights due to a TBI on CT). Prediction rule accuracy was assessed by measuring rule classification performance, using a standard point and 95% CI estimates of the operational characteristics of each prediction rule (sensitivity, specificity, positive and negative predictive values, and diagnostic likelihood ratios).

The project was funded in 2016, and enrollment was completed on September 1, 2021. Data analyses are expected to be completed by December 2022, and the primary study results are expected to be submitted for publication in 2023.

This study will attempt to validate previously derived clinical prediction rules to accurately identify children at high and very low risk for clinically important intra-abdominal trauma and traumatic brain injury. Assuming successful validation, widespread implementation is then indicated, which will optimize the care of children who are injured by better aligning CT use with need.

International registered report identifier (irrid): RR1-10.2196/43027 1).

Background

Blunt head trauma is common in children and a common reason for presentation to an emergency department. Head CT involves radiation exposure and the risk of fatal radiation-related malignancy increases with younger age at CT 2). The PECARN flow diagram flags assessment features that increase the risk of ci-TBI and weigh them against the risk of radiation exposure. Therefore, it is useful in avoiding unnecessary radiation exposure in younger patients, where it is safe to do so, and identifying those at risk that require further investigation.

In PECARN, altered mental status was defined as GCS 14 or agitation, somnolence, repetitive questioning, or slow response to verbal communication.

Severe mechanisms of injuries including:

motor vehicle crash with patient ejection

death of another passenger, or rollover

pedestrian or bicyclist without helmet struck by a motorized vehicle falls

more than 1.5 m (5 feet) for patients aged 2 years and older

more than 0.9 m (3 feet) for those younger than 2 years

head struck by a high-impact object

The algorithm was created from patients presenting to an emergency department within 24 hours of the trauma and with blunt trauma only.

Excluded criteria included:

penetrating trauma

known brain tumors

pre-existing neurological disorders complicating assessment

neuroimaging at a hospital outside before transfer

and therefore may not apply to patients with these features.

TBI on CT was defined as any of:

intracranial hemorrhage or contusion

cerebral edema

traumatic infarction

diffuse axonal injury

shearing injury

sigmoid sinus thrombosis

midline shift of intracranial contents or signs of brain herniation

diastasis of the skull

pneumocephalus

skull fracture depressed by at least the width of the table of the skull

Kuppermann et al. analyzed 42 412 children (derivation and validation populations: 8502 and 2216 younger than 2 years, and 25 283 and 6411 aged 2 years and older). We obtained CT scans on 14 969 (35.3%); ciTBIs occurred in 376 (0.9%), and 60 (0.1%) underwent neurosurgery. In the validation population, the prediction rule for children younger than 2 years (normal mental status, no scalp hematoma except frontal, no loss of consciousness or loss of consciousness for less than 5 s, non-severe injury mechanism, no palpable skull fracture, and acting normally according to the parents) had a negative predictive value for ciTBI of 1176/1176 (100.0%, 95% CI 99.7-100 0) and sensitivity of 25/25 (100%, 86.3-100.0). 167 (24.1%) of 694 CT-imaged patients younger than 2 years were in this low-risk group. The prediction rule for children aged 2 years and older (normal mental status, no loss of consciousness, no vomiting, non-severe injury mechanism, no signs of basilar skull fracture, and no severe headache) had a negative predictive value of 3798/3800 (99.95%, 99.81-99.99) and sensitivity of 61/63 (96.8%, 89.0-99.6). 446 (20.1%) of 2223 CT-imaged patients aged 2 years and older were in this low-risk group. Neither rule missed neurosurgery in validation populations.

These validated prediction rules identified children at very low risk of ciTBIs for whom CT can routinely be obviated 3).

A study applied two different machine learning (ML) models to diagnose mTBI in a paediatric population collected as part of the paediatric emergency care applied research network (PECARN) study between 2004 and 2006. The models were conducted using 15,271 patients under the age of 18 years with mTBI and had a head CT report. In the conventional model, random forest (RF) ranked the features to reduce data dimensionality and the top ranked features were used to train a shallow artificial neural network (ANN) model. In the second model, a deep ANN applied to classify positive and negative mTBI patients using the entirety of the features available. The dataset was divided into two subsets: 80% for training and 20% for testing using five-fold cross-validation. Accuracy, sensitivity, precision, and specificity were calculated by comparing the model’s prediction outcome to the actual diagnosis for each patient. RF ranked ten clinical demographic features and twelve CT-findings; the hybrid RF-ANN model achieved an average specificity of 99.96%, sensitivity of 95.98%, precision of 99.25%, and accuracy of 99.74% in identifying positive mTBI from negative mTBI subjects. The deep ANN proved its ability to carry out the task efficiently with an average specificity of 99.9%, sensitivity of 99.2%, precision of 99.9%, and accuracy of 99.9%. The performance of the two proposed models demonstrated the feasibility of using ANN to diagnose mTBI in a paediatric population. This is the first study to investigate deep ANN in a paediatric cohort with mTBI using clinical and non-imaging data and diagnose mTBI with balanced sensitivity and specificity using shallow and deep ML models. This method, if validated, would have the potential to reduce the burden of TBI evaluation in EDs and aide clinicians in the decision-making process 4).

1)

Ugalde IT, Chaudhari PP, Badawy M, Ishimine P, McCarten-Gibbs KA, Yen K, Atigapramoj NS, Sage A, Nielsen D, Adelson PD, Upperman J, Tancredi D, Kuppermann N, Holmes JF. Validation of Prediction Rules for Computed Tomography Use in Children With Blunt Abdominal or Blunt Head Trauma: Protocol for a Prospective Multicenter Observational Cohort Study. JMIR Res Protoc. 2022 Nov 24;11(11):e43027. doi: 10.2196/43027. PMID: 36422920.
2)

Brenner D, Elliston C, Hall E, Berdon W. Estimated risks of radiation-induced fatal cancer from pediatric CT. AJR Am J Roentgenol. 2001 Feb;176(2):289-96.
3)

Kuppermann N, Holmes JF, Dayan PS, Hoyle JD Jr, Atabaki SM, Holubkov R, Nadel FM, Monroe D, Stanley RM, Borgialli DA, Badawy MK, Schunk JE, Quayle KS, Mahajan P, Lichenstein R, Lillis KA, Tunik MG, Jacobs ES, Callahan JM, Gorelick MH, Glass TF, Lee LK, Bachman MC, Cooper A, Powell EC, Gerardi MJ, Melville KA, Muizelaar JP, Wisner DH, Zuspan SJ, Dean JM, Wootton-Gorges SL; Pediatric Emergency Care Applied Research Network (PECARN). Identification of children at very low risk of clinically-important brain injuries after head trauma: a prospective cohort study. Lancet. 2009 Oct 3;374(9696):1160-70. doi: 10.1016/S0140-6736(09)61558-0. Epub 2009 Sep 14. Erratum in: Lancet. 2014 Jan 25;383(9914):308. PMID: 19758692.
4)

Ellethy H, Chandra SS, Nasrallah FA. The detection of mild traumatic brain injury in paediatrics using artificial neural networks. Comput Biol Med. 2021 Aug;135:104614. doi: 10.1016/j.compbiomed.2021.104614. Epub 2021 Jun 30. PMID: 34229143.

Ventriculoperitoneal Shunt Complications

Ventriculoperitoneal Shunt Complications

see External ventricular drainage complications

see also Cerebrospinal fluid shunt complications.

Ventriculoperitoneal shunt is the most common treatment to manage hydrocephalus; It is unfortunately burdened by up to 25% of complications. The peritoneal approach may expose patients to many complications.

Patients with a ventriculoperitoneal shunt tend to develop epidural fluid accumulation after cranioplasty and also have a higher frequency of syndrome of the trephined after bone flap removal. Thus treatment of patients with postcranioplasty infection and a VP shunt is often challenging.

The management of ventriculoperitoneal shunt complication or failure is a common problem in neurosurgical practice. On occasion, extraperitoneal sites for CSF diversion are required when shunting to the peritoneal cavity has failed after multiple attempts.

Complications frequently associated with a VP shunt: includes shunt obstruction, infection, overdrainage of CSF, and perforation of the gastrointestinal tract, gallbladder, vagina, and abdominal wall at the umbilicus… 1).

Despite procedural and equipment advances, the procedure it is accompanied by frequent complications and malfunctions. Some studies have shown an overall shunt failure rate as high as 59%, with the majority of failures occurring within the first 6 months after shunt placement 2).

Endoscopic placement of ventriculoperitoneal (VP) shunt catheters in pediatric patients has been increasingly used in an attempt to minimize the unacceptably high rates of revision. Although this procedure carries an increased expense, there is currently no evidence to support an improved long-term outcome.

Endoscopic assisted ventricular catheter placement decreased the odds of proximal obstruction but failed to improve overall shunt survival in a 6 year experience 3).

Diagnosis

The evaluation of children with suspected ventriculoperitoneal shunt (VPS) malfunction has evolved into a diagnostic dilemma. This patient population is vulnerable not only to the medical risks of hydrocephalus and surgical complications but also to silent but harmful effects of ionizing radiation secondary to imaging used to evaluate shunt efficacy and patency. The combination of increased medical awareness regarding ionizing radiation and public concern has generated desire to reduce the reliance on head computed tomography (CT) for the evaluation of VPS malfunction. Many centers have started to investigate the utility of low dose computed tomography and alternatives, such as fast magnetic resonance imaging for the investigation of VP shunt malfunction in order to keep radiation exposure as low as reasonably achievable.

A pilot study demonstrates that utilization of limited head CT scan in the evaluation of children with suspected VP shunt malfunction is a feasible strategy for the evaluation of the ventricular size 4).

In the study of Afat et al., low-dose computed tomography (LD-CT) provides excellent sensitivity and higher diagnostic confidence with lower radiation exposure compared with radiographic shunt series (SS) 5).

Ventriculoperitoneal shunt infection

see Ventriculoperitoneal shunt infection.

Ventriculitis

Intraventricular administration of proper antibiotics is a reliable and effective way to treat ventriculitis associated with ventriculoperitoneal shunts.

Vancomycin is the preferred antibiotic for ventriculitis, but other kind(s) of some antibiotics are necessary in a few patients in addition to or instead of vancomycin 6).

Ventriculoperitoneal shunt malfunction

Ventriculoperitoneal shunt overdrainage

see Ventriculoperitoneal shunt overdrainage

Ventriculoperitoneal shunt obstruction

see Ventriculoperitoneal shunt obstruction

Shunt calcification

see Shunt calcification

Abdominal complications

see Ventriculoperitoneal shunt abdominal complications.

Silicone allergy

Ventriculoperitoneal shunt complications have rarely been attributed to silicone allergy, with only a handful of cases reported in literature. The classic presentation of allergy to silicone ventriculoperitoneal shunt, i.e., abdominal pain with recurrent skin breakdown along the shunt tract, is nonspecific and difficult to distinguish clinically from other causes of shunt-related symptoms. It can be diagnosed by detection of antisilicone antibodies and is treated with removal of the shunt and replacement, if needed, with a polyurethane shunt system.

Kurin et al. report the first case of suspected silicone allergy presenting as clinical peritonitis without overt colonic perforation 7).

Progression of Normal-Tension Glaucoma 8).

Case series

Merkler et al., performed a retrospective cohort study of adult patients hospitalized at the time of their first recorded procedure code for VPS surgery between 2005 and 2012 at nonfederal acute care hospitals in California, Florida, and New York. We excluded patients who during the index hospitalization for VPS surgery had concomitant codes for VPS revision, CNS infection, or died during the index hospitalization. Patients were followed for the primary outcome of a VPS complication, defined as the composite of CNS infection or VPS revision. Survival statistics were used to calculate the cumulative rate and incidence rate of VPS complications.

17,035 patients underwent VPS surgery. During a mean follow-up of 3.9 (±1.8) years, at least one VPS complication occurred in 23.8% (95% CI, 22.9-24.7%) of patients. The cumulative rate of CNS infection was 6.1% (95% CI, 5.7-6.5%) and of VPS revision 22.0% (95% CI, 21.1-22.9%). The majority of complications occurred within the first year of hospitalization for VPS surgery. Complication rates were 21.3 (95% CI, 20.6-22.1) complications per 100 patients per year in the first year after VPS surgery, 5.7 (95% CI, 5.3-6.1) in the second year after VPS surgery, and 2.5 (95% CI, 2.1-3.0) in the fifth year after VPS surgery.

Complications are not infrequent following VPS surgery; however, the majority of complications appear to be clustered in the first year following VPS insertion 9).

Case reports

2015

A extremely rare and potentially severe complication of vesical calculi formation on the slit valves of distal end of VP shunt which erosively migrated into the urinary bladder. Suprapubic cystolithotomy performed, peritoneal end of the tube found to be eroding and entering into the bladder with two calculi firmly stuck to slit valves in the distal end of the tubing were removed. Shunt was functional, therefore, it was pulled out and repositioned on the superior aspect of the liver; the urinary bladder was repaired. Patient did well postoperatively. This complication was revealed 1.5 years after the shunt was implanted. Although there were symptoms of dysuria and dribbling of urine of short duration, the patient did not show obvious peritoneal signs; suggesting that, penetration of a VP shunt into the urinary bladder can remain asymptomatic for a long period of time, disclosed late and can lead to considerable morbidity. Careful follow-up is important and management should be individualized 10).

2009

An unusual case of perforation of the distal end of the VP shunt into the bladder, with vesical calculus formation 11).

2002

A bladder stone formed secondary to the erosion of a ventriculoperitoneal shunt through a normal bladder wall 12).

1)

Blount JP, Campbell JA, Haines SJ. Complications in ventricular cerebrospinal fluid shunting. Neurosurg Clin N Am. 1993;4:633–56.
2)

Reddy GK, Bollam P, Shi R, Guthikonda B, Nanda A. Management of adult hydrocephalus with ventriculoperitoneal shunts: long-term single-institution experience. Neurosurgery. 2011;69(4):774–781.
3)

Villavicencio AT, Leveque JC, McGirt MJ, Hopkins JS, Fuchs HE, George TM. Comparison of revision rates following endoscopically versus nonendoscopically placed ventricular shunt catheters. Surg Neurol. 2003 May;59(5):375-9; discussion 379-80. PubMed PMID: 12765808.
4)

Park DB, Hill JG, Thacker PG, Rumboldt Z, Huda W, Ashley B, Hulsey T, Russell WS. The Role of Limited Head Computed Tomography in the Evaluation of Pediatric Ventriculoperitoneal Shunt Malfunction. Pediatr Emerg Care. 2016 Jun 14. [Epub ahead of print] PubMed PMID: 27299297.
5)

Afat S, Pjontek R, Hamou HA, Herz K, Nikoubashman O, Bamberg F, Brockmann MA, Nikolaou K, Clusmann H, Wiesmann M, Othman AE. Imaging of Ventriculoperitoneal Shunt Complications: Comparison of Whole Body Low-Dose Computed Tomography and Radiographic Shunt Series. J Comput Assist Tomogr. 2016 Aug 16. [Epub ahead of print] PubMed PMID: 27529684.
6)

Li XY, Wang ZC, Li YP, Ma ZY, Yang J, Cao EC. [Study on treatment strategy for ventriculitis associated with ventriculoperitoneal shunt for hydrocephalus]. Zhongguo Wei Zhong Bing Ji Jiu Yi Xue. 2005 Sep;17(9):558-60. Chinese. PubMed PMID: 16146606.
7)

Kurin M, Lee K, Gardner P, Fajt M, Umapathy C, Fasanella K. Clinical peritonitis from allergy to silicone ventriculoperitoneal shunt. Clin J Gastroenterol. 2017 Mar 6. doi: 10.1007/s12328-017-0729-0. [Epub ahead of print] PubMed PMID: 28265895.
8)

Chen BH, Drucker MD, Louis KM, Richards DW. Progression of Normal-Tension Glaucoma After Ventriculoperitoneal Shunt to Decrease Cerebrospinal Fluid Pressure. J Glaucoma. 2014 Oct 27. [Epub ahead of print] PubMed PMID: 25350819.
9)

Merkler AE, Ch’ang J, Parker WE, Murthy SB, Kamel H. The Rate of Complications after Ventriculoperitoneal Shunt Surgery. World Neurosurg. 2016 Nov 5. pii: S1878-8750(16)31137-8. doi: 10.1016/j.wneu.2016.10.136. [Epub ahead of print] PubMed PMID: 27826086.
10)

Gupta R, Dagla R, Agrawal LD, Sharma P. Vesical calculi formation on the slit valves of a migrated distal end of ventriculoperitoneal shunt. J Pediatr Neurosci. 2015 Oct-Dec;10(4):368-70. doi: 10.4103/1817-1745.174444. PubMed PMID: 26962346.
11)

Ramana Murthy KV, Jayaram Reddy S, Prasad DV. Perforation of the distal end of the ventriculoperitoneal shunt into the bladder with calculus formation. Pediatr Neurosurg. 2009;45(1):53-5. doi: 10.1159/000204904. Epub 2009 Mar 4. PubMed PMID: 19258730.
12)

Eichel L, Allende R, Mevorach RA, Hulbert WC, Rabinowitz R. Bladder calculus formation and urinary retention secondary to perforation of a normal bladder by a ventriculoperitoneal shunt. Urology. 2002 Aug;60(2):344. PubMed PMID: 12137842.

Ventriculoperitoneal shunt infection

Ventriculoperitoneal shunt infection

see also Shunt infection.

Ventriculoperitoneal shunt infection is the most common ventriculoperitoneal shunt complication, followed by abdominal pseudocyst, abscess, and infected fluid collection 1).

Epidemiology

see Ventriculoperitoneal Shunt Infection Epidemiology.

Types

see Methicillin resistant Staphylococcus aureus ventriculoperitoneal shunt infection.

see Staphylococcus epidermidis ventriculoperitoneal shunt infection

see Cryptococcus neoformans ventriculoperitoneal shunt infection.

Risk factors

Ventriculoperitoneal shunt infection risk factors.

Treatment

Ventriculoperitoneal shunt infection treatment

Outcome

Infection of ventriculoperitoneal shunt causes major morbidity and mortality in patients with cerebrospinal fluid shunts.

The prognosis of CSF shunt infections caused by Gram-negative bacteria (GNB) has been thought to be particularly poor.

Stamos et al. reviewed all GNB shunt infections treated at Children’s Memorial Hospital from January 1986 to January 1990 (n = 23). Of these infections 20 (87%) occurred within 4 weeks after shunt revision (median, 10 days). The most frequent symptoms were fever, lethargy, and irritability; the illness was not severe in the majority of these patients.

Escherichia coli was isolated from 12 of 23 patients (52%), Klebsiella pneumoniae from 5 (22%), and mixed GNB from 3 (13%) patients. Initial treatment always included immediate shunt removal, externalized ventricular drainage, and intravenous antibiotics. Extraventricular drainage revision and/or intraventricular antibiotics were required in four patients whose CSF cultures were persistently positive for GNB. At admission, these patients had CSF glucose levels of < 10 mg/dl and CSF positive for GNB by Gram’s stain. The overall cure rate was 100%, and no recurrence was observed; however, a subsequent infection with a different organism developed in four patients. Only 2 of 19 patients (11%) who were followed up suffered apparent CNS damage. One patient died of unrelated causes shortly after treatment. Our findings indicate that 1) patients with GNB CSF shunt infections often appear relatively well at presentation; 2) CSF positive for GNB by Gram’s stain and very low CSF glucose levels predict continued positive CSF cultures, despite appropriate antibiotic therapy; and 3) GNB CSF shunt infections can be successfully treated by prompt shunt removal, extraventricular drainage, and intravenous antibiotics 2).

Costs

Higher public expenditures were observed in the group of children undergoing ventriculoperitoneal shunt due to higher rates of ventriculoperitoneal shunt infections and mechanical complications requiring repeated hospitalizations and prosthesis replacements. Public policies must be tailored to offer the best treatment to children with hydrocephalus and to make judicious use of public resources without compromising the quality of treatment 3).

Case series

Ventriculoperitoneal shunt infection case series.

Case reports

Ventriculoperitoneal shunt infection case reports.

1)

Chung JJ, Yu JS, Kim JH, Nam SJ, Kim MJ. Intraabdominal complications secondary to ventriculoperitoneal shunts: CT findings and review of the literature. AJR Am J Roentgenol. 2009 Nov;193(5):1311-7. doi: 10.2214/AJR.09.2463. Review. PubMed PMID: 19843747.
2)

Stamos JK, Kaufman BA, Yogev R. Ventriculoperitoneal shunt infections with gram-negative bacteria. Neurosurgery. 1993 Nov;33(5):858-62. PubMed PMID: 8264883.
3)

Soriano LG, Melo JRT. Costs of pediatric hydrocephalus treatment for the Brazilian public health system in the Northeast of Brazil. Childs Nerv Syst. 2022 Aug 10. doi: 10.1007/s00381-022-05630-4. Epub ahead of print. PMID: 35948831.

Setting sun sign

Setting sun sign

The setting sun sign (also known as the sunset eye sign or setting sun phenomenon) is a clinical phenomenon encountered in infants and young children with raised intracranial pressure.

It is an earlier sign of hydrocephalus than enlarged head circumference, full fontanelle, separation of sutures, irritability, vomiting. Consequently, this sign is a valuable early warning of an entity requiring prompt neuroimaging and urgent surgical intervention 1).

Part of Parinaud’s syndrome.

Definition

The “setting sun” sign is an ophthalmologic phenomenon where the eyes appear driven downward bilaterally. The inferior border of the pupil is often covered by the lower eyelid, creating the “sunset” appearance. This finding is classically associated with hydrocephalus in infants and children.

Epidemiology

Seen in up to 40% of children with obstructive hydrocephalus and 13% of children with shunt dysfunction 2).

In 126 children with internal hydrocephalus setting sun was descibed in 51, syndrome of the aqueduct of Sylvius 14, paresis of craniocerebral nerves 9, nystagmus 8, optic atrophy 4 3).

Clinical features

It consists of an up-gaze paresis with the eyes appearing driven downward. The lower portion of the pupil may be covered by the lower eyelid, and sclera may be seen between the upper eyelid and the iris.

Pathogenesis

The pathogenesis of the setting sun sign is believed to be related to aqueductal distention in the dorsal midbrain on the vertical gaze innervation bilaterally. In children with hydrocephalus, up to 40% of cases will present with this sign. Of these patients, 13% harbor ventriculoperitoneal shunts that have failed. The sign is also associated with kernicterus and other features of the full Parinaud syndrome (i.e., dorsal midbrain syndrome). Interestingly, the setting sun sign may also transiently appear in healthy infants up to 7 months of age 4).

Chattha et al. suggest periaqueductal dysfunction rather than mechanical displacement as the possible mechanism for this sign 5).

Outcome

In hydrocephalus, the convulsion and so-called setting sun sign had no significant correlation to poor prognosis 6).

Despite the fact that setting sun eye is a grave sign, most commonly accompanied by other neurological signs and symptoms suggesting serious diseases, it might be observed as a sole finding in a totally normal infant with inconclusive brain imaging and laboratory tests 7).

Case series

A cross-sectional study was conducted in the Children’s Hospital Medical Center in Tehran from June 2001 to 2006. The study included 15 healthy infants who were referred to the neurosurgery clinic for setting sun eye. All were evaluated with brain imaging, and laboratory tests including at least thyroid function tests, and serum calcium and phosphorus. The cases were followed by regular outpatient visits until the age of 2 years.

They were 3-8 months old at the time of referring to the outpatient clinic. Setting sun eye was observed by the mother in all cases and confirmed during their visit to the clinic. All had normal brain imaging and normal laboratory tests (thyroid function and electrolytes). Setting sun eye disappeared gradually during the follow-up period with a range of 2-8 months after detection by the mother.

Despite the fact that setting sun eye is a grave sign, most commonly accompanied by other neurological signs and symptoms suggesting serious diseases, it might be observed as a sole finding in a totally normal infant with inconclusive brain imaging and laboratory tests. We found that this type of setting sun eye has a benign course and will disappear without any intervention several months after its detection (commonly before the age of 2 years without any intervention) 8).

19 infants who displayed the setting-sun eye phenomenon were observed during the first year of life. Nine of the infants showed no signs of illness, eight had an evident increase in intracranial pressure requiring surgical relief, and two had transient signs of increased intracranial pressure which resolved spontaneously. The setting-sun phenomenon could be elicited both by alteration of the infant’s position and by removal of light, and it also occurred spontaneously. The effectiveness of the eliciting mechanism depended on the age of the infant. The component parts of the phenomenon consist of downward rotation of the eyeballs and retraction of the upper eyelids, sometimes accompanied by raising of the brow. The phenomenon can be observed in healthy infants, and its value in early recognition of increased intracranial pressure is limited. The response might indicate increased intracranial pressure if it can be elicited by alteration of position in infants older than four weeks of age or if there is a marked response to removal of light in infants younger than eight weeks or older than 20 weeks of age, especially if the response is combined with constant or intermittent strabismus or undulating eye-movements 9).

Eight cases of obstructive hydrocephalus manifesting palsy of upward gaze and other features of the Sylvian aqueduct syndrome are reported. During the crisis of intracranial hypertension, all of them developed upward gaze palsy and variable abnormalities of the convergence mechanism such as paralysis, spasm, and convergence nystagmus. The frequent apparent blindness was probably related to gaze paralysis since visual evoked responses were present. All these ocular abnormalities disappeared after shunting. Periaqueductal dysfunction on the basis of raised intracranial pressure is postulated as the possible mechanism for the above ocular manifestations. The ‘setting sun’ sign is frequently seen in infants and children with hydrocephalus and has been considered in the past to result from the displacement of eyeballs by pressure from the orbital roof plate. Our observations would suggest periaqueductal dysfunction rather than the mechanical displacement as the possible mechanism for this sign 10).

Case reports

Yoshikawa reported two normally developed infants showing benign“ setting sun” phenomenon. A 2(2-12)-year-old boy and a 7-year-old boy, who were born without any complications at full term, developed brief episodes of downward gazing during sucking and crying after birth However, there were no other clinical or laboratory findings, and they developed normally. The phenomenon was not visible until 6 months and 7 months, respectively. The “setting sun” phenomenon usually indicates underlying severe brain damage and can also be seen, although rarely, in healthy full-term infants until 1 to 5 months. However, the benign “setting sun” phenomenon might exist until 6 or 7 months of age in normal infants 11).

References

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Tzekov C, Cherninkova S, Gudeva T. Neuroophthalmological symptoms in children treated for internal hydrocephalus. Pediatr Neurosurg. 1991-1992;17(6):317-20. PubMed PMID: 1840820.
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Croft, D.E., Almarzouqi, S.J., Morgan, M.L., Lee, A.G. (2018). Setting Sun Sign. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69000-9_1226
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Chattha AS, Delong GR. Sylvian aqueduct syndrome as a sign of acute obstructive hydrocephalus in children. J Neurol Neurosurg Psychiatry. 1975 Mar;38(3):288-96. PubMed PMID: 1151409; PubMed Central PMCID: PMC491910.
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Ito H, Onodera Y, Takanashi K, Tajima K, Miwa T. [Some observations on prognosis in congenital hydrocephalus (first report)–with reference to the preoperative evaluation of the hydrocephalic infants (author’s transl)]. No Shinkei Geka. 1975 Mar;3(3):245-54. Japanese. PubMed PMID: 1238932.
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Nejat F, Yazdani S, El Khashab M. Setting sun eye in normal healthy infants. Pediatr Neurosurg. 2008;44(3):190-2. doi: 10.1159/000120148. Epub 2008 Mar 11. PubMed PMID: 18334841.
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Cernerud L. The setting-sun eye phenomenon in infancy. Dev Med Child Neurol. 1975 Aug;17(4):447-55. PubMed PMID: 1158051.
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Yoshikawa H. Benign “setting sun” phenomenon in full-term infants. J Child Neurol. 2003 Jun;18(6):424-5. PubMed PMID: 12886979