Abstract Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder that usually diagnosed late in pregnancy or postnatally based on pathognomonic midbrain–hindbrain malformation seen magnetic resonance imaging brain, which consists of the hypoplasia cerebellar vermis, thickened superior peduncles, and deepened interpeduncular fossa described as molar tooth sign. The recurr...

Vein of Galen abnormality is a rare congenital malformation of blood vessels of the brain and while often referred to as "Vein of Galen aneurysm" its is really not an aneurysm but usually an arteriovenous (AV) malformation. The following case report will be of interest to sonographers as it demonstrates early prenatal diagnosis of this intracranial vascular abnormality causing cardiac overload ...

Very few studies have shown associations between autism spectrum disorder, attention deficit hyperactivity disorder and Chiari 1 malformation. Here, we report an 10-year-old male that presented after having seizures with a history of Chiari 1 malformation, autism spectrum disorder and ADHD with moderate mental retardation and speech delay. This case highlights the fact that autism spectrum diso...

BACKGROUND Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and anophthalmia or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations. The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderanc...

Forty-three patients with cerebral vascular malformation were studied with precontrast, immediate contrast, and 1 hr delayed high dose contrast computed tomography (CT) scans. The precontrast scans were abnormal in 81% of patients. The delayed high dose scans demonstrated one angiographically occult, thrombosed arteriovenous malformation not seen on pre- or immediate contrast scans, four cases ...

Intracranial arteriovenous malformation is rarely presented in newborns or infants. We describe an unusual case of congenital arteriovenous malformation of the brain with multiple sequestered grape-like venous sacs presented with congenital hydrocephalus. This 4-month-old girl born with a large head, presented with progressive hydrocephalus over a period of 4 months. The brain CT showed multilo...

the sturge-weber syndrome or encephalotrigeminal angiomatosis is a rare neurological and congenital disorder with a frequency of 1 in 50,000 births. this syndrome is a nonhereditary developmental condition and is characterized by the presence of congenital capillary malformation and a hamartomatous vascular proliferation involving the face (port-wine stain or facial birthmark), sometimes skull ...

Corpus callosum is the major interspheric fiber bundle that connects two cerebral hemispheres. agenesis among most common brain malformation, which has a wide spectrum of presentation ranging from mild intellectual disability to severe developmental delay and refractory seizures. We here report case complete corpus presenting with gait abnormality in an otherwise normal child.

BACKGROUND Few studies have examined seizures in pediatric brain arteriovenous malformation. In our study, risk factors associated with seizure occurrence and long-term seizure control outcomes after different treatments in pediatric arteriovenous malformation patients were investigated. METHODS A retrospective analysis was conducted with clinical data from a cohort of 89 pediatric brain arte...

Congenital aniridia manifests with total or partial absence of the iris. The association disease PAX6 gene has been proven. Changes in structure lead to intrauterine pathology, visual organ malformation, malformation master regulator proteins organogenesis affecting various cells’ differentiation (central nervous system cells included). Such disorders result into development PAX6-associated syn...