megalencephaly/céphalée

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Multiple suture synostosis, macrocephaly, and intracranial hypertension in a child with alpha-D-mannosidase deficiency. Case report.

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The authors present an unusual case in which increased intracranial pressure developed because of multiple-suture craniosynostosis and megaloencephaly in a child with a previously undiagnosed lysosomal storage disease, alpha-D-mannosidase deficiency. This 3-year-old boy presented with a history of

Acquired Chiari I malformation and syringomyelia after valveless lumboperitoneal shunt in infancy.

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The authors present the case of a 13-year-old boy who experienced frequent disabling episodes of typical postural induced headaches, which revealed a Chiari I malformation, syringomyelia and cervical spinal cord edema. This boy had received a valveless lumboperitoneal (LP) shunt at the age of 18

Surgery for intracranial arachnoid cysts in children-a prospective long-term study.

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OBJECTIVE Intracranial arachnoid cysts are cystic malformations found in both adults and children. While many are asymptomatic, some cause symptoms and warrant surgical treatment. In this prospective population-based study, we aimed to study the short- and long-term outcome after surgical

Supraorbital Keyhole Microsurgical Fenestration of Symptomatic Temporal Arachnoid Cysts in Children: Advantages and Limitations.

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OBJECTIVE To investigate the impact of endoscope-assisted microsurgical fenestration on temporal arachnoid cysts, and to determine the advantages and limitations of the technique. METHODS Twenty-five children with symptomatic temporal arachnoid cysts were operated via eyebrow supraorbital keyhole

Dural arteriovenous fistulae in pediatric patients: associated conditions and treatment outcomes.

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OBJECTIVE Dural arteriovenous fistulae (dAVF) are rare vascular lesions of the CNS with potentially significant morbidity and mortality. Our experience in the treatment of children with dAVF is reported. METHODS Our neurosurgical and neurointerventional pediatric database was retrospectively

Intracranial arachnoid cyst on dental radiography: a diagnostic challenge.

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Intracranial arachnoid cysts (IACs) can present as congenital asymptomatic lesions that may predispose them to present as an incidental finding during radiographic examination. On the other hand, IACs may also give rise to a series of neurologic symptoms depending on their size and location, such as

The detection and management of intracranial hypertension after initial suture release and decompression for craniofacial dysostosis syndromes.

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We performed a retrospective study of 107 consecutive patients with syndromic forms of craniosynostosis (craniofacial dysostosis) seen by the craniofacial team at the Hospital for Sick Children between 1986 and 1992. There were 51 patients with Crouzon's syndrome, 33 with Apert's syndrome, 8 with

Natural history and pathophysiology of arteriovenous malformations.

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AVMs are congenital malformations of central nervous system blood vessels. The majority of lesions become symptomatic prior to age 40. Hemorrhage and epilepsy are the most frequent presenting symptoms. Disabling headache, transient, progressive, and permanent neurological deficit, heart failure,

[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes].

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BACKGROUND Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted. Using the experience of two patients

[Treatment of child hydrocephalus by endoscopic third ventriculostomy in Senegal].

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BACKGROUND Since its advent, endoscopic third ventriculostomy (ETV) has been an effective alternative to shunt placement for the treatment of hydrocephalus. The aim of this study was to report the results of our experience with this technique in children in Senegal. METHODS This was a retrospective

Van Buchem disease: First case report in Taiwan.

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BACKGROUND Van Buchem disease (VBD) is a very rare autosomal recessive disease. According to our review of the relevant literature, this article is the first case report of VBD in Taiwan. UNASSIGNED A 54-year-old woman developed a protruding chin, frontal bossing, and macrocephaly at the age of 40

Presenting symptoms of pediatric brain tumors diagnosed in the emergency department.

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OBJECTIVE The primary objective of this study is to categorize the symptoms associated with brain tumors as diagnosed in the emergency department (ED). The secondary objective is to detail the specific characteristics of these headaches via a subgroup analysis. METHODS A retrospective chart review

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

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Glutaric acidemia type 1 (GA-1, OMIM no. 231670) is an autosomal recessive disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH). The subsequent accumulation of the amino acids lysine, hydroxylysine, and tryptophan and their breakdown intermediates can be neurotoxic and particularly

Developmental dilatation of Virchow-Robin spaces: a genetic disorder?

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In childhood, widening of Virchow-Robin spaces is rarely secondary to specific progressive disorders, but more often appears in poorly characterized developmental conditions. From data collected in a neuropediatric department, we examined whether clinical data associated with "constitutional

[Dilatation of Virchow-Robin perivascular spaces (types III cerebral lacunae): radio-clinical correlations].

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OBJECTIVE Virchow-Robin spaces are pia-lined extensions of the subarachnoid space surrounding the path of brain vessels. When enlarged, such dilated perivascular spaces are often seen as foci of cerebrospinal fluid signal on MRI or CT scan. These foci are found in patients with miscellaneous

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