Posttraumatic leptomeningeal cyst

Posttraumatic leptomeningeal cyst

Posttraumatic leptomeningeal cysts (PTLMC) (sometimes just traumatic leptomeningeal cysts), AKA growing skull fractures consists of a fracture line that widens with time.

The term cyst is actually a misnomer, as it is not a cyst, but an extension of the encephalomalacia 1).

Posttraumatic leptomeningeal cysts were first described in 18162).

Very rare, occurring in 0.05–0.6% of skull fracture3) 4). Usually requires both a widely separated fracture AND a dural tear.

Mean age at injury: < 1 year; over 90% occur before age 3 years 5) (formation may require the presence of a rapidly growing brain 6)), although rare adult cases have been described 7)8) 9) (a total of 5 cases in the literature as of 1998 10)).

The pathophysiology and some aspects of its management are still controversial.

It is thought they occur secondary to skull fractures causing dural tears allowing the leptomeninges and/or cerebral parenchyma to herniate into it

Pulsations from CSF erode the fracture margin, resulting in eventual expansion and non-union.

It occurs due to a wide skull defect with underlying dural defect and changes in pressure gradients within the skull cavity. Neglected cases may develop progressive neurological deficits and complications after second head trauma 11).

Enlarging scalp mass


Focal neurological deficit


Most often presents as scalp mass (usually subgaleal), although there are reports of presentation with head pain alone 12).

Kitumba and Mascarenhas presented a rare case of an adult with excruciating headache secondary to a post-traumatic fronto-orbital leptomeningeal cyst 13)

PTLMCs rarely occur > 6 mos out from the injury. Some children may develop a skull fracture that seems to grow during the initial few weeks that is not accompanied by a subgaleal mass, and that heals spontaneously within several months; the term “pseudogrowing fracture” has been suggested for these 14).

They can rupture and cause diffuse subgaleal CSF collection 15).

Radiographic findings: progressive widening of fracture and scalloping (or saucering) of edges.

round or oval lucency with smooth margins

CT scan is the modality of choice for the evaluation of leptomeningeal cyst. It consists of a lytic calvarial lesion with scalloped edges, in which encephalomalacia invaginates. The following features may also be present

extracranial brain herniation


unilateral ventricular dilatation

porencephalic cyst.

Guler I, Buyukterzi M, Oner O, Tolu I. Post-traumatic leptomeningeal cyst in a child: computed tomography and magnetic resonance imaging findings. J Emerg Med. 2015 May;48(5):e121-2. doi: 10.1016/j.jemermed.2014.12.042. Epub 2015 Feb 3. PMID: 25662419.

Not to be confused with arachnoid cysts (AKA leptomeningeal cysts, which are not posttraumatic).

Posttraumatic intradiploic leptomeningeal cyst.

Skull tumor 16).

eosinophilic granuloma

calvarial metastases

epidermoid cyst


congenital calvarial defect

Although usually asymptomatic, the cyst may cause a mass effect with neurologic deficit.

Distal cortical artery aneurysms: often associated with an overlying s skull fracture, sometimes a growing skull fracture

Neglected GSF can rupture and cause diffuse subgaleal CSF collection 17).

If early growth of a fracture line with no subgaleal mass is noted, repeat skull films in 1–2 months before operating (to rule out pseudogrowing fracture). In young patients with separated skull fractures (the width of the initial fracture is rarely mentioned), consider obtaining follow-up skull film 6–12 mos post-trauma. However, since most PTLMCs are brought to medical attention when the palpable mass is noticed, routine follow-up X-rays may not be cost-effective.

Treatment of true PTLMC is surgical, with dural closure mandatory. Since the dural defect is usually larger than the bony defect, it may be advantageous to perform a craniotomy around the fracture site, repair the dural defect, and replace the bone 18).

The dural substitutes used are either autografts (which may not be enough) or artificial grafts (which are foreign-body implantations and which also may be too expensive in a low-resource practice).

Adeleye presented the surgical description of the use of the cyst capsule as a cost-free autologous graft in the surgical repair of the dural defects of two cases of traumatic leptomeningeal cyst 19).

Pseudogrowing fractures should be followed with X- rays and operated only if expansion persists beyond several months or if a subgaleal mass is present.

Liu et al. performed a retrospective review of 27 patients with GSF, who were grouped according to 3 different GSF stages.

Over a period of 20 years, 27 patients with GSF (16 males and 11 females) were treated in the authors’ department. The mean follow-up period was 26.5 months. Six patients were in the pre-phase of GSF (Stage 1), 10 patients in the early phase (Stage 2), and 11 in the late phase (Stage 3). All patients underwent duraplasty. All 6 patients at Stage 1 and 5 patients at Stage 2 underwent craniotomy without cranioplasty. Five patients at Stage 2 and all of the patients at Stage 3 underwent cranioplasty with autologous bone and alloplastic materials, respectively. Among all patients, 5 underwent ventriculoperitoneal shunt placement. Symptoms in all patients at Stages 1 and 2 were alleviated or disappeared, and the cranial bones developed without deformity during follow-up. Among patients with Stage 3 GSF, no obvious improvement in neurological deficits was observed. Three patients underwent additional operations because of cranial deformation or infection.

The authors identify the stages of GSF according to a new hypothesis. They conclude that accurately diagnosing and treating GSF during Stages 1 and 2 leads to a better prognosis 20)

Kulkarni et al. presented a 14-year-old child who developed sudden-onset, diffuse, soft, fluctuant, circumferential swelling of the head after a road traffic accident. He had sustained a head injury at the age of 3-months leading to an asymptomatic soft swelling over the skull which was left untreated. The present CT scan of the brain showed a bony defect with ragged edges and cerebrospinal fluid (CSF) collection in subgaleal space circumferentially. He underwent exploration, duroplasty, and cranioplasty and had a good outcome.

Neglected GSF can rupture and cause diffuse subgaleal CSF collection. It should be managed with dural repair and cranioplasty 21).

Kitumba D, Mascarenhas L. Rare case of an adult with excruciating headache secondary to post-traumatic fronto-orbital leptomeningeal cyst. Neurochirurgie. 2020 Nov;66(5):410-411. doi: 10.1016/j.neuchi.2020.06.126. Epub 2020 Aug 7. PMID: 32777233 22).

A 4-year-old boy was brought to the emergency department after suffering from head trauma caused by a fall from a rooftop where he was treated conservatively at a local hospital. Later, he developed swelling in the occipital region and was brought to the department of neurosurgery where he was operated on. After the first surgery, recurrence of swelling was seen after a postoperative period of 2 months, and a computed tomography scan reported persistent epidural hygroma with extension into the subcutaneous space. The second surgery was performed, and a 12-month follow-up did not show any recurrence of swelling in the patient 23).

A full-term infant born after a nontraumatic, forceps-assisted spontaneous delivery, who developed an increasing cystic swelling over the left frontoparietal area that crossed over coronal and sagittal sutures. The lesion was initially misinterpreted as cephalhematoma. Clinical and radiological follow-up established the correct diagnosis of leptomeningeal cyst.

The collection was initially tapped. Surgical treatment was undertaken thereafter, consisting of decompression and resection of the cyst and dural repair. Two months after follow-up, the patient remains asymptomatic and the porencephalic cavity remains isolated from the extradural space, with no evidence of new fluid collections 24).

A 53-year-old female presented with a post-traumatic leptomeningeal cyst manifesting as bulging of the scalp, dizziness, and tinnitus. She had known of the bulging of her forehead for about 20 years. She had suffered an injury to the head in childhood. Brain CT revealed a bone cyst associated with a round bone defect in the left frontal bone, bulging of the very thin outer layer, and the defective inner layer. She was treated surgically with a diagnosis of a skull tumor, but only gray cystic membranous tissue was found. The dural defect was repaired with fascia and the bone defect with bone cement. Bulging of the skull in adults can be caused by a bone cyst originating from a skull fracture 25).

12 patients diagnosed and treated between 1980 and 2002. 11 patients were under the age of 3 years and one patient was 5 years old at the moment of HI. The most common cause of injury was a fall from height. In the initial plain x-rayfilms, 11 patients showed a diastatic skull fracture and one patient only had a linear fracture. At this time, CT scan showed cortical contussion underlying the fracture in every case. The mean time between injury and presentation of GSF was 11.6 weeks. Diagnosis was made by palpation of the cranial defect and confirmed with skull x-rayfilms. The most frecuent location of GSF was in the parietal region. Associated lesions like hydrocephalus, encephalomalacia, leptomenigeal cysts, brain tissue herniation and ipsilateral ventricular dilatation, were found in the preoperative CT or MRI. All patients underwent a dural repair with pericranium or fascia lata. The cranial defect was covered with local calvarial bone fragments in every case. Only one patient needed a cranioplasty with titanium mesh. Every child with a skull fracture must be followed until the fracture heals. Patients under the age of 3 years with a diastatic fracture and a dural tear, demostrated by TC or MRI, are more prone to develop GSF. In these cases, early repair must be adviced in order to prevent progressive brain damage 26).

A growing skull fracture associated with cerebrospinal fluid rhinorrhoea following trauma sustained in adult life. The natural history of its development, diagnosis, and the results of surgery are discussed. The literature is reviewed with regard to aetiology, incidence, imaging characteristics and management of this rare post-traumatic complication 27).

A lump in the right parietal region of this 53-year-old man prompted a computed tomography (CT) scan. The patient denied any symptoms and was in good health. The examination confirmed a firm, non-tender, non-pulsatile mass in the right parietal region of the skull. The CT scan demonstrated a 4 x 3 cm area of irregular bone destruction involving both the inner and outer table of the skull. At operation a distinctly raised paper-thin outer table was noted, and underneath was a soft, tan-colored mass, which measured approximately 2 x 2 cm and was connected to the underlying brain through a 1 cm dural defect. The extradural portion of the mass was amputated, the dura repaired with a pericranium patch, the skull defect was repaired with a split-thickness bone graft, and the final pathology was congruent with a gliotic brain 28).

Meloche BR, Sansregret A, Grégoire H, Gagnon J, Massicotte P. Un cas de kyste leptoméningé post-traumatique [A case of post-traumatic leptomeningeal cyst]. Union Med Can. 1967 Oct;96(10):1214-9. French. PMID: 5601803.

PEYSER E, WEISSBERG D. Post-traumatic arachnoidal cyst. Report of an unusual case. J Neurosurg. 1961 Jul;18:551-3. doi: 10.3171/jns.1961.18.4.0551. PMID: 13735101.

2) , 7) , 10) , 28)

Britz GW, Kim DK, Mayberg MR. Traumatic leptomeningeal cyst in an adult: a case report and review of the literature. Surg Neurol. 1998 Nov;50(5):465-9. doi: 10.1016/s0090-3019(97)00233-4. PMID: 9842874.

Ramamurthi B, Kalyanaraman S. Rationale for Surgery in Growing Fractures of the Skull. J Neurosurg. 1970; 32:427–430

Arseni CS. Growing Skull Fractures of Children. A Particular Form of Post-Traumatic Encephalopathy. Acta Neurochir. 1966; 15:159–172

Lende R, Erickson T. Growing Skull Fractures of Childhood. J Neurosurg. 1961; 18:479–489

Gadoth N, Grunebaum M, Young LW. Leptomeningeal Cyst After Skull Fracture. Am J Dis Child. 1983; 137:1019–1020
8) , 12)

Halliday AL, Chapman PH, Heros RC. Leptomeningeal Cyst Resulting from Adulthood Trauma: Case Report. Neurosurgery. 1990; 26:150–153
9) , 18)

Iplikciglu AC, Kokes F, Bayar A, et al. Leptomeningeal Cyst. Neurosurgery. 1990; 27: 1027–1028

Drapkin AJ. Growing skull fracture: a posttraumatic neosuture. Childs Nerv Syst. 2006 Apr;22(4):394-7. doi: 10.1007/s00381-005-1158-9. Epub 2005 Apr 22. PMID: 15856258.
13) , 22)

Kitumba D, Mascarenhas L. Rare case of an adult with excruciating headache secondary to post-traumatic fronto-orbital leptomeningeal cyst. Neurochirurgie. 2020 Nov;66(5):410-411. doi: 10.1016/j.neuchi.2020.06.126. Epub 2020 Aug 7. PMID: 32777233.

Sekhar LN, Scarff TB. Pseudogrowth in Skull Fractures of Childhood. Neurosurgery. 1980; 6:285–289
15) , 17) , 21)

Kulkarni AV, Dikshit P, Devi BI, Sadashiva N, Shukla D, Bhat DI. Unusual Complication of a Neglected Growing Skull Fracture. Pediatr Neurosurg. 2021 Feb 24:1-5. doi: 10.1159/000513102. Epub ahead of print. PMID: 33626526.
16) , 25)

Kurosu A, Fujii T, Ono G. Post-traumatic leptomeningeal cyst mimicking a skull tumour in an adult. Br J Neurosurg. 2004 Feb;18(1):62-4. doi: 10.1080/02688690410001660463. PMID: 15040717.

Adeleye AO. Posttraumatic leptomeningeal cyst capsule as a cost-free autograft for its repair: case illustrated technical reports. Neurosurg Rev. 2020 Aug 8. doi: 10.1007/s10143-020-01364-6. Epub ahead of print. PMID: 32772295.

Liu XS, You C, Lu M, Liu JG. Growing skull fracture stages and treatment strategy. J Neurosurg Pediatr. 2012 Jun;9(6):670-5. doi: 10.3171/2012.2.PEDS11538. PMID: 22656261.

Harsh V, Gond PK, Kumar A. Post-Traumatic Diploic Leptomeningeal Cyst with Bilateral Posterior Cranial Fossa Epidural Hygroma: A Management Dilemma? World Neurosurg. 2020 Aug;140:258-261. doi: 10.1016/j.wneu.2020.05.129. Epub 2020 May 21. PMID: 32445897.

Miranda P, Vila M, Alvarez-Garijo JA, Perez-Nunez A. Birth trauma and development of growing fracture after coronal suture disruption. Childs Nerv Syst. 2007 Mar;23(3):355-8. Epub 2006 Oct 5. PubMed PMID: 17021730.

Mierez R, Guillén A, Brell M, Cardona E, Claramunt E, Costa JM. [Growing skull fracture in childhood. Presentation of 12 cases]. Neurocirugia (Astur). 2003 Jun;14(3):228-33; discussion 234. Spanish. PubMed PMID: 12872172.

Gupta V, Sinha S, Singh AK, Kumar S, Singh D. Growing skull fracture of ethmoid: a report of two cases. J Craniomaxillofac Surg. 2000 Aug;28(4):224-8. doi: 10.1054/jcms.2000.0141. PMID: 11110154.

Non-small cell lung cancer intracranial metastases treatment

Non-small cell lung cancer intracranial metastases treatment

Brain metastases are common in patients with non-small cell lung cancer (NSCLC). Because of associated poor prognosis and limited specific treatment options, there is a real need for the development of medical therapies and strategies for affected patients 1).

EGFR and ALK tyrosine kinase inhibitors (TKIs) provide significantly superior systemic response rates and progression free survival compared to standard chemotherapy in the molecularly defined Non-small cell lung cancer (NSCLC) subpopulations. An apparent intracranial activity of new generation TKIs triggered the discussion on their role in brain metastases in lieu of local therapies 2).

The discovery of Epidermal Growth Factor Receptor (EGFR)-activating mutations and Anaplastic Lymphoma Kinase (ALK) rearrangements in patients with non-small cell lung adenocarcinoma has allowed for the introduction of small-molecule tyrosine kinase inhibitors to the treatment of advanced-stage patients. The Epidermal Growth Factor Receptor (EGFR) is a transmembrane protein with tyrosine kinase-dependent activity. EGFR is present in membranes of all epithelial cells. In physiological conditions, it plays an important role in the process of cell growth and proliferation. Binding the ligand to the EGFR causes its dimerization and the activation of the intracellular signaling cascade. Signal transduction involves the activation of MAPKAKT, and JNK, resulting in DNA synthesis and cell proliferation. In cancer cells, binding the ligand to the EGFR also leads to its dimerization and transduction of the signal to the cell interior. It has been demonstrated that activating mutations in the gene for EGFR-exon19 (deletion), L858R point mutation in exon 21, and mutation in exon 20 results in cancer cell proliferation. Continuous stimulation of the receptor inhibits apoptosis, stimulates invasion, intensifies angiogenesis, and facilitates the formation of distant metastases. As a consequence, cancer progresses. These activating gene mutations for the EGFR are present in 10-20% of lung adenocarcinomas. Approximately 3-7% of patients with lung adenocarcinoma have the echinoderm microtubule-associated protein-like 4 (EML4)/ALK fusion gene. The fusion of the two genes EML4 and ALK results in a fusion gene that activates the intracellular signaling pathway stimulates the proliferation of tumor cells and inhibits apoptosis. A new group of drugs-small-molecule tyrosine kinase inhibitors-has been developed; the first generation includes gefitinib and erlotinib and the ALK inhibitor crizotinib. These drugs reversibly block the EGFR by stopping the signal transmission to the cell. The second-generation tyrosine kinase inhibitor (TKI) afatinib or ALK inhibitor alectinib block the receptor irreversibly. Clinical trials with TKI in patients with non-small cell lung adenocarcinoma with central nervous system (CNS) metastases have shown prolonged, progression-free survival, a high percentage of objective responses, and improved quality of life. Resistance to treatment with this group of drugs emerging during TKI therapy is the basis for the detection of resistance mutations. The T790M mutation, present in exon 20 of the EGFR gene, is detected in patients treated with first- and second-generation TKI and is overcome by Osimertinib, a third-generation TKI. The I117N resistance mutation in patients with the ALK mutation treated with alectinib is overcome by ceritinib. In this way, sequential therapy ensures the continuity of treatment. In patients with CNS metastases, attempts are made to simultaneously administer radiation therapy and tyrosine kinase inhibitors. Patients with lung adenocarcinoma with CNS metastases, without activating EGFR mutation and without ALK rearrangement, benefit from immunotherapy. This therapeutic option blocks the PD-1 receptor on the surface of T or B lymphocytes or PD-L1 located on cancer cells with an applicable antibody. Based on clinical trials, pembrolizumab and all antibodies are included in the treatment of non-small cell lung carcinoma with CNS metastases 3).

KPS score ≥ 70, RPA class I/II, and postoperative chemotherapy could benefit post-metastasectomy patients with brain metastases (BM) from Non-small cell lung cancer (NSCLC). Conversely, the initial onset of intracranial lesions is an unfavorable factor that increases the risk of death. These findings support the use of personalized therapy for patients with BM from NSCLC 4).

A article of Preusser et al., is the result of a round table discussion held at the European Lung Cancer Conference (ELCC) in Geneva in May 2017. Its purpose was to explore and discuss the advances in the knowledge about the biology and treatment of brain metastases originating from non-small cell lung cancer. The authors propose a series of recommendations for research and treatment within the discussed context 5).

PUBMEDEMBASE, the Cochrane LibraryWeb of Knowledge, Current Controlled Trials, Clinical Trials, and 2 conference websites were searched to select NSCLC patients with only single brain metastasis (SBM) who received brain surgery or SRS. SPSS 18.0 software was used to analyze the mean median survival time (MST) and Stata 11.0 software was used to calculate the overall survival (OS).

A total of 18 trials including 713 patients were systematically reviewed. The MST of the patients was 12.7 months in surgery group and 14.85 months in SRS group, respectively. The 1, 2, and 5 years OS of the patients were 59%, 33%, and 19% in surgery group, and 62%, 33%, and 14% in SRS group, respectively. Furthermore, in the surgery group, the 1 and 3 years OS were 68% and 15% in patients with controlled primary tumors, and 50% and 13% in the other patients with uncontrolled primary tumors, respectively. Interestingly, the 5-year OS was up to 21% in patients with controlled primary tumors.

There was no significant difference in MST or OS between patients treated with neurosurgery and SRS. Patients with resectable lung tumors and SBM may benefit from the resection of both primary lesions and metastasis 6).

Patients with NSCLC and synchronous brain metastases, presenting neurological symptoms showed no survival benefit from neurosurgical resection, although quality of life was improved due to early control of neurological symptoms 7).

Response rates after platinum based antineoplastics, range from 23% to 45%. Development of epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs): gefitinib or erlotinib, was an improvement in treatment of advanced NSCLC patients. EGFR mutations are present in 10-25% of NSCLC (mostly adenocarcinoma), and up to 55% in never-smoking women of East Asian descent. In the non-selected group of patients with BMF-NSCLC, the overall response rates after gefitinib or erlotinib treatment range from 10% to 38%, and the duration of response ranges from 9 to 13.5 months. In the case of present activating EGFR mutation, the response rate after EGRF-TKIs is greater than 50%, and in selected groups (adenocarcinoma, patients of Asian descent, never-smokers, asymptomatic BMF-NSCLC) even 70%. Gefitinib or erlotinib treatment improves survival of BMF-NSCLC patients with EGFR mutation in comparison to cases without the presence of this mutation. There is no data on the activity of the anti-EML4-ALK agent crizotinib. Bevacizumab, recombinant humanised monoclonal antibody anti-VEGF, in the treatment of advanced non-squamous NSCLC patients is a subject of intense research. Data from a clinical trial enrolling patients with pretreated or occult BMF-NSCLC proved that the addition of bevacizumab to various chemotherapy agents or erlotinib is a safe and efficient treatment, associated with a low incidence of CSN haemorrhages. However, the efficacy and safety of bevacizumab used for therapeutic intent, regarding active brain metastases is unknown 8).

see Non small cell lung cancer intracranial metastases whole brain radiotherapy

see Non small cell lung cancer intracranial metastases radiosurgery

see Non small cell lung cancer intracranial metastases surgery.


Bulbul A, Forde PM, Murtuza A, Woodward B, Yang H, Bastian I, Ferguson PK, Lopez-Diaz F, Ettinger DS, Husain H. Systemic Treatment Options for Brain Metastases from Non-Small-Cell Lung Cancer. Oncology (Williston Park). 2018 Apr 15;32(4):156-63. Review. PubMed PMID: 29684234.

Wrona A, Dziadziuszko R, Jassem J. Management of brain metastases in non-small cell lung cancer in the era of tyrosine kinase inhibitors. Cancer Treat Rev. 2018 Dec;71:59-67. doi: 10.1016/j.ctrv.2018.10.011. Epub 2018 Oct 21. Review. PubMed PMID: 30366200.

Rybarczyk-Kasiuchnicz A, Ramlau R, Stencel K. Treatment of Brain Metastases of Non-Small Cell Lung Carcinoma. Int J Mol Sci. 2021 Jan 8;22(2):593. doi: 10.3390/ijms22020593. PMID: 33435596; PMCID: PMC7826874.

She C, Wang R, Lu C, Sun Z, Li P, Yin Q, Liu Q, Wang P, Li W. Prognostic factors and outcome of surgically treated patients with brain metastases of non-small cell lung cancer. Thorac Cancer. 2018 Nov 28. doi: 10.1111/1759-7714.12913. [Epub ahead of print] PubMed PMID: 30485664.

Preusser M, Winkler F, Valiente M, Manegold C, Moyal E, Widhalm G, Tonn JC, Zielinski C. Recent advances in the biology and treatment of brain metastases of non-small cell lung cancer: summary of a multidisciplinary roundtable discussion. ESMO Open. 2018 Jan 26;3(1):e000262. doi: 10.1136/esmoopen-2017-000262. eCollection 2018. Review. PubMed PMID: 29387475; PubMed Central PMCID: PMC5786916.

Qin H, Wang C, Jiang Y, Zhang X, Zhang Y, Ruan Z. Patients with single brain metastasis from non-small cell lung cancer equally benefit from stereotactic radiosurgery and surgery: a systematic review. Med Sci Monit. 2015 Jan 12;21:144-52. doi: 10.12659/MSM.892405. PubMed PMID: 25579245.

Kim SY, Hong CK, Kim TH, Hong JB, Park CH, Chang YS, Kim HJ, Ahn CM, Byun MK. Efficacy of surgical treatment for brain metastasis in patients with non-small cell lung cancer. Yonsei Med J. 2015 Jan 1;56(1):103-11. doi: 10.3349/ymj.2015.56.1.103. PubMed PMID: 25510753; PubMed Central PMCID: PMC4276743.

Cedrych I, Kruczała MA, Walasek T, Jakubowicz J, Blecharz P, Reinfuss M. Systemic treatment of non-small cell lung cancer brain metastases. Contemp Oncol (Pozn). 2016;20(5):352-357. doi: 10.5114/wo.2016.64593. Epub 2016 Dec 20. Review. PubMed PMID: 28373815; PubMed Central PMCID: PMC5371701.

MRI for Growth hormone deficiency

MRI for Growth hormone deficiency

In patients with severe growth hormone deficiency and patients with multiple pituitary hormone deficiencies, MRI is more likely to be abnormal, and bone age is much delayed in patients with a history of prenatal disorder1)

MRI is indicated to rule out calcifications, tumors, and structural anomalies. But preliminary data indicate that most brain MRIs performed for routine evaluation of children with isolated growth hormone deficiency (IGHD) are not essential for determining the cause. Further studies with larger cohorts are needed in order to validate this proposed revision of current protocols 2).

Patients with abnormal MRI findings show a more favorable response to GH replacement therapy 3).

Pathogenic MRIs were uncommon in patients diagnosed with GHD except in the group with peak GH<3 ng/mL. There was a high frequency of incidental findings which often resulted in referrals to neurosurgery and repeat MRIs. Given the high cost of brain MRIs, their routine use in patients diagnosed with isolated GHD, especially patients with a peak GH of 7-10 ng/mL, should be reconsidered 4).

Xu et al. verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due to primary hypothyroidism; 38 cases (6.6%) of Rathke cleft cyst; 68 cases (11.8%) of empty sella syndrome; 16 cases (2.8%) of pituitary invasion from Langerhans cell histiocytosis; 2 cases (0.3%) of sellar regional arachnoid cyst and 39 cases (6.8%) of craniopharyngioma. MRI results showed that the height of anterior pituitary in patients was less than normal. Location, size and signals of posterior pituitary and pituitary stalk were normal in anterior pituitary dysplasia. In all cases pituitary hyperplasia was caused by hypothyroidism. MRI results showed that anterior pituitary was enlarged, and we detected upward apophysis and obvious homogeneous enhancement. There were no pituitary stalk interruption and abnormal signal. We also observed that after hormone replacement therapy the size of pituitary gland was reduced. Anterior pituitary atrophy was observed in Rathke cleft cyst, empty sella syndrome, sellar regional arachnoid cyst and craniopharyngioma. The microstructure of hypophysis and sellar region was studied with MRI. We detected pituitary lesions, and the characteristics of various pituitary diseases of GHD in children with short stature. It was concluded that in children with GHD caused by pituitary lesions, MRI was an excellent method for early diagnosis. This method offers clinical practicability and we believe it can be used for differential diagnosis and to monitor the therapeutic effects 5).


Naderi F, Eslami SR, Mirak SA, Khak M, Amiri J, Beyrami B, Shekarchi B, Poureisa M. Effect of growth hormone deficiency on brain MRI findings among children with growth restrictions. J Pediatr Endocrinol Metab. 2015 Jan;28(1-2):117-23. doi: 10.1515/jpem-2013-0294. PMID: 25153566.

Oren A, Singer D, Rachmiel M, Hamiel U, Shiran SI, Gruber N, Levy-Shraga Y, Modan-Moses D, Eyal O. Questioning the Value of Brain Magnetic Resonance Imaging in the Evaluation of Children with Isolated Growth Hormone Deficiency. Horm Res Paediatr. 2020;93(4):245-250. doi: 10.1159/000509366. Epub 2020 Aug 24. PMID: 32836222.

Ariza Jiménez AB, Martínez Aedo Ollero MJ, López Siguero JP. Differences between patients with isolated GH deficiency based on findings in brain magnetic resonance imaging. Endocrinol Diabetes Nutr. 2020 Feb;67(2):78-88. English, Spanish. doi: 10.1016/j.endinu.2019.09.001. Epub 2019 Nov 14. PMID: 31734177.

Schmitt J, Thornton P, Shah AN, Rahman AKMF, Kubota E, Rizzuto P, Gupta A, Orsdemir S, Kaplowitz PB. Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency. J Pediatr Endocrinol Metab. 2021 Feb 22. doi: 10.1515/jpem-2020-0579. Epub ahead of print. PMID: 33618442.

Xu C, Zhang X, Dong L, Zhu B, Xin T. MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions. Exp Ther Med. 2017 Jun;13(6):3474-3478. doi: 10.3892/etm.2017.4377. Epub 2017 Apr 24. PMID: 28587427; PMCID: PMC5450600.
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