CT and MRI findings in infantile vanishing white matter.

Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age. Imaging findings demonstrated widespread white matter abnormalities throughout the supratentorial and infratentorial brain.

MRI findings in juvenile Huntington's disease.

Juvenile Huntington's disease is a rare neurodegenerative disorder that first affects the basal ganglia. Presented here is a case of juvenile Huntington's disease in an 8-year-old male. Clinical features included epilepsy and developmental delay.

ACTA2 leukovasculopathy: A rare pediatric white matter disorder.

A 3-year-old girl presented with ataxia, dilated pupils, and behavioral change prompting work up for stroke. Her medical history included chronic mydriasis and patent ductus arteriosus requiring aortoplasty. Magnetic resonance imaging of the brain demonstrated confluent white matter signal abnormality concerning for leukodystrophy.

Third ventricle choroid plexus papilloma: 2 cases.

The third ventricle is an uncommon location for choroid plexus papillomas. In adults, these tumors most commonly occur in the fourth ventricle. In children, they are more commonly found in the lateral ventricles.

CT and MRI findings in leptomeningeal melanocytosis.

Leptomeningeal melanocytosis is a rare cause of seizure in the pediatric population. Shown here is a case of this disease in a 9-year-old male who presented with seizures and minor trauma. Imaging showed progression of leptomeningeal enhancement in the setting of increased seizure activity, and biopsy confirmed the diagnosis.

Pontine tegmental cap dysplasia with a duplicated internal auditory canal.

Pontine tegmental cap dysplasia (PTCD) is a rare neurological syndrome that results in a hypoplastic ventral pons, tegmental cap at the dorsal pons, and cranial nerve dysfunction. The most common symptoms are hearing loss and speech problems. We present a case of a 9-month-old male who presented with developmental delay and hypotonia.

Cystic fibrosis and Chiari type I malformation: autopsy study of two infants with a rare association.

Cystic fibrosis (CF), an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is not generally associated with malformations of the central nervous system (CNS). This report describes two African-American children who died at less than 2 years of age with known Chiari I malformations and were found, unexpectedly at autopsy, to have the classic pancreatic and respiratory changes of CF. Both patients had suffered from failure to thrive that had been attributed to their CNS malformations.