Chiari malformation describes a group of structural defects of the cerebellum, characterized by brain tissue protruding into the spinal canal. Chiari malformations are often associated with myelomeningocele, hydrocephalus, syringomyelia, and tethered cord syndrome. Although studies of etiology are few, an increasing number of specific genetic syndromes are found to be associated with Chiari mal...

Neural tube defects of the brain and spinal cord, among the most common birth defects in the United States, cause neurologic morbidity from the lesions themselves and from associated hydrocephalus and Arnold-Chiari malformation. Because the myelomeningoceles, and encephaloceles are repaired surgically within hours of birth, neonatal anesthetic management with attention to fluids, body temperatu...

Syncope precipitated by sneezing in an adult male associated with an Arnold-Chiari type I malformation and basilar invagination presents a clinical problem in the differential diagnosis and pathological anatomy of Valsalva-related syncope. An abnormally acute clivoaxial angle, small foramen magnum, and type I Arnold-Chiari malformation appear to be a combination of features intolerant of Valsa...

Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33 Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, a...

Abnormal cerebral vasculature can be a manifestation of a vascular malformation or a neoplastic process. We report the case of a patient with angiography-negative subarachnoid hemorrhage (SAH) who re-presented 3 years later with a large intraparenchymal hemorrhage. Although imaging following the intraparenchymal hemorrhage was suggestive of arteriovenous malformation, the patient was ultimately...

Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown function, was previously shown to underlie this disorder in four unrelated cases. Here we describe four additional individuals from three families,...

We report the case of a 35 year old African American female who developed hypertrophic olivary degeneration secondary to resection of a pontine cavernous malformation. The patient initially complained of headaches and diplopia. Unenhanced computed tomography (CT) and magnetic resonance images (MRI) of the brain revealed a left pontine cavernous malformation with scattered foci of recent and rem...

We present a rare case of massive intracerebral hemorrhage resulting from a small, superficially-located supratentorial cavernous malformation, or cavernoma. These lesions rarely lead to massive, life-threatening intracerebral hemorrhages. A 17-year-old female presented with a 3-week history of declining mental status. Brain computed tomography and magnetic resonance imaging revealed a sizable ...

Schizencephaly is a brain malformation disorder characterized by one or more full-thickness clefts through the cerebral cortex. While initial reports suggested that EMX2 mutations are a common cause of schizencephaly, more recent evidence suggests that EMX2 mutations are not a common cause of this malformation. To determine the frequency of EMX2 mutations in patients with schizencephaly, we seq...

Multifocal capillary malformation (CM) is the cardinal feature of patients with RASA1 mutations. These CMs are 'red flags', signalling the possible association with an arteriovenous malformation (AVM) or an arteriovenous fistula (AVF). We report an 8-year-old boy who presented with > 20 CMs, who was found to have a novel mutation in the RASA1 gene. Radiological screening of children with RASA1 ...