Anterior sacral meningocele in Marfan syndrome

Anterior sacral meningocele in Marfan syndrome

Twenty-four Marfan and 2 Loeys-Dietz patients had anterior sacral meningocele at follow-up, compared with 21 and 1, respectively, at baseline. Three Marfan patients developed herniation of a nerve root sleeve during follow-up. This was not seen in other individuals. The dural sac ended significantly lower at follow-up, and the dural sac ratio at level L5 was significantly increased from baseline in the Marfan patients.

In Marfan and Loeys-Dietz syndrome, dural ectasia may present or worsen during adulthood. The cut-off value of dural sac ratio at level S1 is suggested elevated to 0.64. The results from the present study may help as guidance for appropriate follow-up of patients with dural ectasia 1).

A case of a 46-year-old woman who presented with urinary incontinence, early satiety, and back pain in the setting of a known anterior sacral meningocele. Before operative management, the anterior sacral meningocele ruptured with the patient presenting signs and symptoms of intracranial hypotension. Conservative management did not alleviate the pain. She was ultimately managed with posterior sacroplasty followed by anterior sacral meningocele resection and placement of a lumboperitoneal shunt. The patient did not have reaccumulation of the meningocele or recurrent symptoms at the latest follow-up.

The progression of dural ectasia in Marfan syndrome to an anterior sacral meningocele is uncommon. It is important to identify the characteristics associated with an expanding dural ectasia as this patient’s symptoms progressed over time and the meningocele grew large. Given its rarity, there are no guidelines in place regarding size at which repair of an anterior sacral meningocele should occur prophylactically. It is important to review these cases in order continue to learn about progression, management, and outcomes of patients with an anterior sacral meningocele. 2).


A 43-year-old woman with a history of Marfan syndrome and a large ASM was referred for neurosurgical intervention. The ASM was filling the pelvic cavity and causing severe compression of the bladder. The patient underwent surgical decompression of the cyst through an anterior transabdominal approach and closure of the fistulous tract with a pedicled omental flap. This is the first reported case of successful closure of an ASM with an omental flap. At the 6-month follow-up, the ASM had not recurred on imaging and the patient’s symptoms had resolved. Anterior sacral meningoceles are rare lesions that often require neurosurgical intervention. Although most can be treated posteriorly, large ASMs compressing the abdominal or pelvic organs may require a transabdominal approach. Moreover, ASMs with wide dural stalks may benefit from closure with an omental flap. 3).


A 43-year-old man diagnosed with Marfan syndrome suffered sacrococcygeal trauma. He was admitted to the emergency room due to symptoms of headache, nausea, and lower limb subjective weakness. CT and MRI showed a large retroperitoneal mass with hemorrhagic content close to the sacrum. Likewise, the MRI showed an image compatible with subarachnoid hemorrhage in the thoracic spinal area, cerebral convexity, and the basal cisterns. The patient went into surgery for an anterior abdominal approach in the midline to reduce the content of the lesion, and subsequently, in the same act, a posterior approach was done with an S1-S2 laminectomy and obliteration of the pedicle. Postoperative MRI 5 months later showed resolution of the ASM.

Anterior sacral meningocele is characterized by herniation of the dura mater and the arachnoid mater outside the spinal canal through a defect of the sacrum. We add the risk of bleeding after trauma-never seen in the literature-as one of the possible inherent complications of this lesion.

This report highlights a complication never seen in the literature of a relatively rare condition. In our case, the combined approach was effective for both clinical control and lesion regression. 4).


A patient with Marfan’s syndrome and ASMs who was referred to gynaecology owing to dysmenorrhoea and left-sided pelvic pain radiating to the left leg. A transvaginal ultrasound scan (TVUS) detected a left pelvic cystic tubular structure, attributed to a hydrosalpinx, which, in retrospect, likely corresponded to the ASM. The patient went on to have TVUS-guided drainage of this cystic structure, resulting in an ASM abscess. It is difficult to distinguish ASM from the vastly more common hydrosalpinx using TVUS alone, and in patients with an atypical appearing posteriorly positioned cystic pelvic lesion or in the presence of underlying conditions known to be associated with ASMs, MRI should be considered before any interventional procedure to drain the suspected hydrosalpinx transvaginally. The patient was successfully treated using a minimally invasive CT-guided posterior trans-sacral drainage technique. 5).


A 20-year old female with Marfan syndrome who presented with abdominal distention that was misdiagnosed as an ovarian cyst on pelvic ultrasound. Pelvic magnetic resonance (MR) imaging showed large, well-defined multiloculated intrasacral and presacral cysts communicating via two separate broad necks and extending through defects in anterior aspect of sacral vertebrae. This case emphasizes that anterior sacral meningocele should be considered in the differential diagnosis of cases with pelvic cysts particularly in patients with underlying connective tissue disorders. Because severe neurologic complications or even death may occur without proper preoperative planning in such cases, MR imaging should always be performed for evaluation and characterization of pelvis cystic lesions. 6).


A young woman with Marfan syndrome who was being treated with anticoagulants for a prosthetic heart valve and who presented with a spontaneous retroperitoneal hemorrhage requiring surgical evacuation. No CSF leak was encountered at surgery, but she developed progressively more severe positional headaches over the following year. She then experienced the sudden onset of acute urinary obstruction, at which time CT revealed a 17 × 15 × 13-cm presacral pseudomeningocele communicating with the thecal sac through a sacral bone defect. An anterior surgical approach was used for drainage of the pseudomeningocele as well as for primary closure of the dural defect with a bovine pericardial patch and autologous subcutaneous fat graft. After a short period of lumbar subarachnoid drainage of the CSF, the patient was able to resume normal activity without recurrent symptoms. To the authors’ knowledge, such a pseudomeningocele in a patient with Marfan syndrome has been reported only twice, and this case features the largest pseudomeningocele to date. They also review the pertinent literature regarding presentation, diagnosis, and management of these lesions. 7).


Relapse of Escherichia coli meningitidis due to sacral meningocele in Marfan syndrome, treated only with antibiotherapy 8).


Surgical Treatment of Anterior Sacral Meningoceles in Patients with Marfan Syndrome: A Report of Three Cases 9).


A case of bacterial meningitis secondary to fistulous communication between a sacral meningocele and sigmoid colon in the setting of diverticulitis 10).


Five women who underwent laparoscopic transperitoneal surgery were clinically, radiologically, and surgically evaluated.

Result: All 5 patients underwent laparoscopic transperitoneal surgery and showed satisfactory results. They had no major complications. Three patients had headaches as minor complications, but it was gone in at most 3 days. Decrease in operative time, blood loss, and length of hospitalization were the advantages of the procedure.

The laparoscopic approach to treating anterior sacral meningocele was feasible and safe, with only minor complications. 11).


A woman with Marfan’s syndrome presenting with a clinical picture of acute gastroenteritis in whom severe bilateral hydroureteronephrosis associated to a neurogenic bladder and a giant anterior sacral meningocele was diagnosed incidentally. The importance of this case lies in the fact that the patient was asymptomatic despite the significant visceral repercussions already occurring that led to questioning of whether MRI follow-up would still be advisable even in the absence of symptoms. 12).


A 46-year-old woman with Marfan’s syndrome exhibiting an incomplete Currarino triad and recurrent bacterial meningitis which recurred three times in about six months. An anterior sacral meningocele (ASM) was noted in a lumbar MRI, and multiple bone defects in the sacrum were noted in 3D-CT. Surgical approach to prevent the recurrence of infection was limited to plasty for the meningocele, but no meningitis has been observed for two years. Radical surgery should be considered in cases with ASM who recurred bacterial meningitis. 13).


A 52 year old woman with Marfan syndrome who presented with a significantly large anterior sacral meningocele without having associated symptoms. In light of this case, we recommend that asymptomatic Marfan patients with dural ectasia should be closely observed without need for immediate surgical intervention 14).


18-year-old man with Marfan syndrome, diagnosed upon MRI morphological evaluation which showed a huge cystic mass in the pelvic space. Surgical excision even if curative was not performed in consideration of a stationary picture after one year since diagnosis. 15).


Two cases presenting as nongynaecological pelvic masses are described highlighting the clinical difficulty in diagnosis and the classical radiological findings 16).


Anterior sacral meningocele presenting as a pelvic/abdominal mass in a patient with Marfan syndrome 17).


The first case of a giant anterior sacral meeningocele rapidly cured by a simple endoscopic procedure 18). The postoperative course of the patient was characterized by immediate disappearance of the preoperative clinical signs. Computed tomographic scans demonstrated progressive complete collapse of the anterior sacral meningocele and partial resolution of the intrasacral component 19).


A marfanoid patient underwent celiotomy for a pelvic mass and was found to have an anterior sacral meningocele. Nine years prior to that time she had undergone surgery because of a “sacrococcygeal cyst,” which in retrospect seemed to be a posterior meningocele 20).


Purulent meningitis from surgical inoculation of an anterior sacral meningocele 21).


Anterior sacral meningocele in association with Marfan’s syndrome 22).


1)

Böker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R. Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. Spine J. 2019 Aug;19(8):1412-1421. doi: 10.1016/j.spinee.2019.04.010. Epub 2019 Apr 15. PMID: 30998996.
2)

Hollenberg AM, Baldwin AL, Mesfin A, Silberstein H. Rupture of Giant Anterior Sacral Meningocele in a Patient with Marfan Syndrome: Diagnosis and Management. World Neurosurg. 2018 Nov;119:137-141. doi: 10.1016/j.wneu.2018.07.249. Epub 2018 Aug 6. PMID: 30092475.
3)

Paisan GM, Crandall KM, Chen S, Burks SS, Sands LR, Levi AD. Closure of a giant anterior sacral meningocele with an omental flap in a patient with Marfan syndrome: case report. J Neurosurg Spine. 2018 Aug;29(2):182-186. doi: 10.3171/2018.1.SPINE171303. Epub 2018 May 25. PMID: 29799321.
4)

Gilete-Tejero IJ, Ortega-Martínez M, Mata-Gómez J, Rico-Cotelo M, Bernal- García LM, Yerga-Lorenzana B, Casado-Naranjo I. Anterior sacral meningocele presenting as intracystic bleeding. Eur Spine J. 2018 Jul;27(Suppl 3):276-280. doi: 10.1007/s00586-017-5128-1. Epub 2017 May 18. PMID: 28523383.
5)

Jawad S, Ejindu V, Johnson D, Shah MA, Abbasi MA, Ojha K, Papadakos N. Transvaginal ultrasound-guided aspiration of an anterior sacral meningocele masquerading as a hydrosalpinx, resulting in abscess formation. BJR Case Rep. 2016 Sep 3;3(1):20160037. doi: 10.1259/bjrcr.20160037. PMID: 30363340; PMCID: PMC6159307.
6)

Sahin N, Genc M, Kasap E, Solak A, Korkut B, Yilmaz E. Anterior Sacral Meningocele Masquerading as an Ovarian Cyst: A Rare Clinical Presentation Associated with Marfan Syndrome. Clin Pract. 2015 Apr 24;5(2):752. doi: 10.4081/cp.2015.752. PMID: 26236457; PMCID: PMC4500879.
7)

Stone JG, Bergmann LL, Takamori R, Donovan DJ. Giant pseudomeningocele causing urinary obstruction in a patient with Marfan syndrome. J Neurosurg Spine. 2015 Jul;23(1):77-80. doi: 10.3171/2014.11.SPINE131086. Epub 2015 Apr 24. PMID: 25909269.
8)

Bigaré M, Lesaffre X, Delassus JL, Bakir R, Bouldouyre MA. Rechute de méningite à Escherichia coli due à un méningocèle sacré dans le cadre d’une maladie de Marfan, traitée par antibiothérapie prolongée seule [Relapse of Escherichia coli meningitidis due to sacral meningocele in Marfan syndrome, treated only with antibiotherapy]. Presse Med. 2014 Jan;43(1):93-5. French. doi: 10.1016/j.lpm.2013.02.330. Epub 2013 Jul 19. PMID: 23876649.
9)

Ebnet J, Krauss JK, Lorenz M, Bektas H, Nakamura M. Surgical Treatment of Anterior Sacral Meningoceles in Patients with Marfan Syndrome: A Report of Three Cases. JBJS Case Connect. 2012 Apr-Jun;2(2):e16. doi: 10.2106/JBJS.CC.K.00040. PMID: 29252417.
10)

Samet JD, Johnson PT, Horton KM, Fishman EK. Diverticulitis complicated by fistulous communication of sigmoid colon with anterior sacral meningocele in a patient with Marfan syndrome. Radiol Case Rep. 2015 Dec 7;7(1):442. doi: 10.2484/rcr.v7i1.442. PMID: 27326266; PMCID: PMC4899866.
11)

Trapp C, Farage L, Clatterbuck RE, Romero FR, Rais-Bahrami S, Long DM, Kavoussi LR. Laparoscopic treatment of anterior sacral meningocele. Surg Neurol. 2007 Oct;68(4):443-8; discussion 448. doi: 10.1016/j.surneu.2006.11.067. PMID: 17905071.
12)

Santana JM, Gómez A, Alemán P, Travieso MM. Ureterohidronefrosis severa asociada a meningocele sacro anterior gigante asintomático: presentación de un caso y revisión de la literatura [Severe hydroureteronephrosis associated to asymptomatic giant anterior sacral meningocele: a case report and review of the literature]. Radiologia. 2007 Jan-Feb;49(1):43-6. Spanish. doi: 10.1016/s0033-8338(07)73715-3. PMID: 17397621.
13)

Hatano A, Akiyama K, Nagayama M, Takagi S. [Case of Marfan’s syndrome with anterior sacral meningocele along with recurring bacterial meningitis]. Rinsho Shinkeigaku. 2006 Sep;46(9):658-60. Japanese. PMID: 17260811.
14)

Nallamshetty L, Ahn NU, Ahn UM, Nallamshetty HS, Rose PS, Buchowski JM, Sponseller PD. Dural ectasia and back pain: review of the literature and case report. J Spinal Disord Tech. 2002 Aug;15(4):326-9. doi: 10.1097/00024720-200208000-00012. PMID: 12177551.
15)

Rigante D, Segni G. Anterior sacral meningocele in a patient with Marfan syndrome. Clin Neuropathol. 2001 Mar-Apr;20(2):70-2. PMID: 11327300.
16)

Voyvodic F, Scroop R, Sanders RR. Anterior sacral meningocele as a pelvic complication of Marfan syndrome. Aust N Z J Obstet Gynaecol. 1999 May;39(2):262-5. doi: 10.1111/j.1479-828x.1999.tb03390.x. PMID: 10755797.
17)

Schneider MB, Dittmar S, Boxer RA. Anterior sacral meningocele presenting as a pelvic/abdominal mass in a patient with Marfan syndrome. J Adolesc Health. 1993 Jun;14(4):325-8. doi: 10.1016/1054-139x(93)90182-o. PMID: 8347646.
18)

Raftopoulos C, Delecluse F, Braude P, Rodesh C, Brotchi J. Anterior sacral meningocele and Marfan syndrome: a review. Acta Chir Belg. 1993 Jan- Feb;93(1):1-7. PMID: 8470436.
19)

Raftopoulos C, Pierard GE, Rétif C, Braude P, Brotchi J. Endoscopic cure of a giant sacral meningocele associated with Marfan’s syndrome: case report. Neurosurgery. 1992 May;30(5):765-8. doi: 10.1097/00006123-199205000-00020. PMID: 1584392.
20)

Barter JF, Addison WA, Rosenberg ER, Hammond CB. Anterior sacral meningocele presenting as a pelvic mass and diagnosed only at celiotomy after an extensive workup. A case report. J Reprod Med. 1983 Oct;28(10):684-6. PMID: 6655630.
21)

le Mercier Y, Decazes JM, Mechali D, Redondo A, Aboulker J, Coulaud JP. Méningite purulente par inoculation chirurgicale d’une méningocèle sacrée antérieure. Une complication rare de la maladie de Marfan [Purulent meningitis from surgical inoculation of an anterior sacral meningocele: a rare complication of Marfan’s disease (author’s transl)]. Ann Med Interne (Paris). 1980;131(5):289-90. French. PMID: 7004305.
22)

Strand RD, Eisenberg HM. Anterior sacral meningocele in association with Marfan’s syndrome. Radiology. 1971 Jun;99(3):653-4. doi: 10.1148/99.3.653. PMID: 5578713.

Sickle Cell Disease Associated Moyamoya Syndrome

Sickle Cell Disease Associated Moyamoya Syndrome

Moyamoya syndrome (MMS) is a relatively uncommon vascular complication of sickle cell disease (SCD) characterized by progressive stenosis of the supraclinoid carotid arteries and development of typical collaterals


Sickle Cell Disease is associated with moyamoya-like changes on cerebral angiographic imaging in 43% of patients. Cerebral aneurysms,arteriovenous malformations, and dural arteriovenous fistulas (AVFs) have been described in association with SCD and moyamoya disease.


Moyamoya syndrome increases the risk of stroke in sickle cell disease

Collaborative management between hematology and neurosurgery offers effective strategies to reduce stroke risk in these patients.

Revascularization is associated with a significant reduction in stroke risk, both relative to prerevascularization rates and compared with medical management. According to these findings, surgical revascularization offers a safe and durable preventative therapy for stroke and should be pursued aggressively in this patient population 1).

A retrospective cohort study of medically managed vs surgically revascularized patients with moyamoya syndrome and sickle cell disease was conducted. Demographic data and outcomes including the number of prediagnosis, postdiagnosis, and postrevascularization strokes were collected. Risk factors for stroke were identified using a binary logistic regression model, and stroke rates and mortality between groups were compared.

Of the 29 identified patients, 66% were medically managed and 34% underwent surgical revascularization (50% direct and 50% indirect). Calculated stroke rates were 1 per 5.37 (medical management), 1 per 3.43 (presurgical revascularization), and 1 per 23.14 patient-years (postsurgical revascularization). There was 1 surgical complication with no associated permanent deficits. No risk factors for stroke after time of diagnosis were found to be significant.

The results of this study demonstrate that revascularization is associated with a significant reduction in stroke risk, both relative to prerevascularization rates and compared with medical management. According to these findings, surgical revascularization offers a safe and durable preventative therapy for stroke and should be pursued aggressively in this patient population 2).

Lo Presti et al. present the case of a 15-year-old boy with Sickle cell disease SCD-associated moyamoya disease harboring a intracranial pial arteriovenous fistula pAVF who developed a de novo venous aneurysm 8 months after undergoing indirect superficial temporal arterymiddle cerebral artery (MCA) bypass that was complicated by bilateral ischemia of the MCA territory. The pAVF was successfully treated with transarterial embolization using Onyx. The authors describe the possible pathophysiological mechanisms and management strategies for this rare occurrence 3).


Slingerland et al. described a challenging case where a patient with sickle cell disease undergoing standard of care management as prescribed by the Stroke Prevention Trial in Sickle Cell Anemia (STOP) and revascularization with pial synangiosis subsequently developed rapidly progressive disease in other cerebral vessels and suffered ischemic hemispheric stroke. This case demonstrates the success of management in accordance with American Heart Association (AHA) and American Stroke Association (ASA) guidelines, but also demonstrates critical areas where we lack understanding of disease progression 4).


1) , 2)

Newman S, McMahon JT, Boulter JH, Malcolm JG, Revuelta Barbero JM, Chern JJ, Barrow DL, Pradilla G. Revascularization Is Associated With a Reduced Stroke Risk in Patients With Sickle Cell-Associated Moyamoya Syndrome. Neurosurgery. 2022 Feb 10. doi: 10.1227/NEU.0000000000001847. Epub ahead of print. PMID: 35132969.
3)

Lo Presti A, Weil AG, Fallah A, Peterson EC, Niazi TN, Bhatia S. Treatment of a cerebral pial arteriovenous fistula in a patient with sickle cell disease-related moyamoya syndrome: case report. J Neurosurg Pediatr. 2015 May 22:1-5. [Epub ahead of print] PubMed PMID: 26053963.
4)

Slingerland AL, Karsten MB, Smith ER, Sobota AE, See AP. Two Sides of a Coin: Case Report of Unilateral Synangiosis and Contralateral Stroke Highlighting Consequences of Disease Progression and Efficacy of Revascularization in Sickle Cell Disease Associated Moyamoya Syndrome. Acta Haematol. 2021 Dec 8. doi: 10.1159/000521361. Epub ahead of print. PMID: 34879377.

Down syndrome

Down syndrome

Down syndrome is a multiple malformation syndrome due to the trisomy of chromosome 21.

Down syndrome may be associated with various neurologic complications such as moyamoya disease, cervical spinal cord compression due to atlanto-axial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke 1).


Down syndrome is associated with ligamentous laxity of the spine. This has implications whenever a fusion is contemplated, as adjacent segment failure with kyphosis is very common. Ligamentous laxity may also result in atlanto-axial subluxation (AAS).

Atlanto-axial subluxation in Down syndrome

(Cerebral) amyloid angiopathy may be more prevalent in patients with Down syndrome.


Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down syndrome with multiple neurologic conditions is rare 2).

There is epidemiological evidence that individuals with Down syndrome are at decreased risk for solid tumors including brain tumors. It has been suggested that some genes expressed on the extra copy of chromosome 21 act as tumor suppressor genes and contribute to the protection against tumorigenesis.

Yolk sac tumor 3)

Yamamoto et al. report the first Down syndrome patient, an 8-year-old boy, with a meningioma in the posterior fossa. The diagnosis was based on histological study of the surgically resected tumor. Postoperatively his neurological status improved and there was no tumor regrowth in the next 2 years. Fluorescence in situ hybridization (FISH) for chromosome 22 confirmed high allele loss involving the NF2 gene locus, a finding typical in meningiomas. FISH also revealed chromosome 21 heterogeneity in tumor cells; not only cells with trisomy 21 but also cells with disomy and monosomy 21 were present. All blood cells from the patient manifested trisomy 21.

This finding suggests that deletion of the chromosome 21 allele may be associated with the tumorigenesis of meningioma in Down syndrome. It supports the hypothesis that some genes whose expression is increased on the extra copy of chromosome 21 function as tumor suppressor genes and that they contribute to the reduced tumor incidence in individuals with Down syndrome 4).

Down syndrome (DS) patients with early-onset dementia share similar neurodegenerative features with Alzheimer disease (AD) 5).

Individuals with Down syndrome (DS) are at increased risk of developing AD in adulthood as a result of chromosome 21 trisomy and triplication of the amyloid precursor protein (APP) gene. In both conditions, the central nervous system (CNS) basal forebrain cholinergic system progressively degenerates, and such changes contribute to the manifestation of cognitive decline and dementia. Given the strong dependency of these neurons on nerve growth factor (NGF), it was hypothesized that their atrophy was caused by NGF deficits. However, in AD, the synthesis of NGF is not affected at the transcript level and there is a marked increase in its precursor, proNGF. This apparent paradox remained elusive for many years 6).


Down syndrome results in neuromotor impairment that affects selective motor control, compromising the acquisition of motor skills and functional independence.

A study received approval from the Institutional Review Board of Universidade Nove de Julho (Sao Paulo,Brazil) under process number 1.540.113 and is registered with the Brazilian Registry of Clinical Trials (N° RBR3PHPXB). The participating institutions have presented a declaration of participation. The volunteers will be permitted to drop out of the study at any time with no negative repercussions. The results will be published and will contribute evidence regarding the use of this type of intervention on children 7).

Cervical spine pathologies are common in Down syndrome (DS) patients. Cervical pathologies may cause cord compression and neurologic deterioration if left untreated. Complication rates of 73-100% have been reported in DS patients after cervical spine surgery in historical studies.

Current techniques may improve pseudarthrosis (p = 0.009), LOR (p = 0.043), and first attempt (p = 0.038) and overall fusion rates (p = 0.018) compared with historical studies. Complications continue to challenge most patients (82.4%). A total of 16 of 17 patients (94.1%) demonstrated stabilization or improvement in neurologic status. Apparent successful outcome in the majority appears to warrant the high complication risk associated with cervical spine surgery in DS patients. The anterior approach resulted in a higher risk of complications than posterior (p = 0.032). Siemionow et al report a higher than expected incidence of pseudarthrosis in DS patients receiving rhBMP-2, putting its benefit in DS patients into question 8).

see Ts65Dn.


1)

Hwang SW, Jea A. A review of the neurological and neurosurgical implications of Down syndrome in children. Clin Pediatr (Phila). 2013 Sep;52(9):845-56. doi: 10.1177/0009922813491311. Epub 2013 Jun 6. Review. PubMed PMID: 23743011.
2)

Lee KY, Lee KS, Weon YC. Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome. Korean J Pediatr. 2013 Dec;56(12):540-3. doi: 10.3345/kjp.2013.56.12.540. Epub 2013 Dec 20. PubMed PMID: 24416050; PubMed Central PMCID: PMC3885790.
3)

Sugimoto K, Ideguchi M, Sadahiro H, Yoshikawa K, Goto H, Nomura S, Fujii M, Suzuki M. Yolk sac tumor of the bilateral basal ganglia in a patient with Down syndrome. Brain Tumor Pathol. 2013 Oct;30(4):247-52. doi: 10.1007/s10014-012-0134-9. Epub 2013 Jan 11. Review. PubMed PMID: 23306965.
4)

Yamamoto T, Shinojima N, Todaka T, Nishikawa S, Yano S, Kuratsu JI. Meningioma in Down syndrome – Case Report. World Neurosurg. 2015 Apr 8. pii: S1878-8750(15)00365-4. doi: 10.1016/j.wneu.2015.03.065. [Epub ahead of print] PubMed PMID: 25862935.
5)

Chang CY, Chen SM, Lu HE, Lai SM, Lai PS, Shen PW, Chen PY, Shen CI, Harn HJ, Lin SZ, Hwang SM, Su HL. N-butylidenephthalide Attenuates Alzheimer’s Disease-Like Cytopathy in Down Syndrome Induced Pluripotent Stem Cell-Derived Neurons. Sci Rep. 2015 Mar 4;5:8744. doi: 10.1038/srep08744. PubMed PMID: 25735452; PubMed Central PMCID: PMC4348654.
6)

Iulita MF, Cuello AC. Nerve growth factor metabolic dysfunction in Alzheimer’s disease and Down syndrome. Trends Pharmacol Sci. 2014 Jul;35(7):338-48. doi: 10.1016/j.tips.2014.04.010. Epub 2014 Jun 21. Review. PubMed PMID: 24962069.
7)

Lopes JBP, Grecco LAC, Moura RCF, Lazzari RD, Duarte NAC, Miziara I, Melo GEL, Dumont AJL, Galli M, Santos Oliveira C. Protocol study for a randomised, controlled, double-blind, clinical trial involving virtual reality and anodal transcranial direct current stimulation for the improvement of upper limb motor function in children with Down syndrome. BMJ Open. 2017 Aug 11;7(8):e016260. doi: 10.1136/bmjopen-2017-016260. PubMed PMID: 28801420.
8)

Siemionow K, Hansdorfer M, Janusz P, Mardjetko S. Complications in Adult Patients with Down Syndrome Undergoing Cervical Spine Surgery Using Current Instrumentation Techniques and rhBMP-2: A Long-Term Follow-Up. J Neurol Surg A Cent Eur Neurosurg. 2016 Jul 22. [Epub ahead of print] PubMed PMID: 27448197.
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