Chiari I malformation: association with seizures and developmental disabilities.

Chiari I malformation, a congenital abnormality in which deformed cerebellar tonsils are displaced downward through the foramen magnum, commonly presents in patients with headache or symptoms of dysfunction of the cerebellum, brain stem, and cervical spinal cord. We report 11 children with Chiari I malformation who presented with seizures and developmental delay in motor or language function with or without autistic features. To our knowledge, an association between Chiari I malformation and seizures or neurodevelopmental deficits or both has not been previously reported. We believe that Chiari I malformation should not be considered an incidental finding in these patients, but may be a marker for subtle cerebral dysgenesis. Chiari I and II malformations may constitute a complex but continuous spectrum, related to the timing and severity of a shared underlying embryologic mechanism.

Neurofibromatosis. Clinical overview.

Neurofibromatosis is a relatively common genetic disorder of the peripheral and central nervous systems. Virtually all organ systems can be involved, either directly or through neural or vascular influences. Children and adults may be affected; management may become difficult due to mental retardation, learning and behavior disorders, and seizures. Because the condition is inherited in autosomal-dominant fashion, one may have to deal with family members who also have these medical, neurologic, and psychologic problems. Benign or malignant tumors may be found in the brain, spinal cord, and somatic and autonomic peripheral nerves. Malignant tumors may involve the airway, the gastrointestinal tract, the genitourinary tract, and the blood vessels. Clinicians caring for these patients must be aware of these protean manifestations in addition to problems involving their own areas of expertise.

Isolation of the right subclavian artery with subclavian steal in a child with Klippel-Feil anomaly: an example of the subclavian artery supply disruption sequence.

We studied a patient with Klippel-Feil anomaly and subclavian steal due to isolation of the right subclavian artery. Other anomalies included hypoplasia of the right clavicle and right vertebral artery, low bifurcation of the left common carotid artery and left choanal atresia. The patient was mentally retarded with corticospinal, cerebellar, and brain stem signs. The entire brain and cervical spinal cord were small; there was no central nervous system malformation, hydrocephalus, or bony impingement on neural structures. Embryologic vascular disorders have been found to be responsible for various congenital systemic and neurologic anomalies such as intestinal atresia and hydranencephaly. Subclavian artery supply disruption sequence has been hypothesized to result in Klippel-Feil, Poland, and Möbius anomalies. In this case the vertebral and facial abnormalities may well be related to anomalous subclavian and carotid supply. An embryonic vascular "steal" has been thought to cause the sirenomelia anomaly. We postulate that the subclavian steal, during the embryonic period, may have been responsible for the small size of this patient's cerebral hemispheres, brain stem, cerebellum, and cervical spinal cord.

CT of cerebral venous sinus thrombosis in a child with homocystinuria.

We describe a case of cerebral venous sinus thrombosis in a child with homocystinuria. We present both the classic CT findings of cerebral sinus thrombosis, and also the first report of the CT visualization of transdural venous collateral circulation.

The effect of delta-9-tetrahydrocannabinol on rat cerebrospinal fluid.

The effect of delta-9-tetrahydrocannabinol (THC) on cerebrospinal fluid (CSF) flow in rats was studied. The ventricular system of rats anesthetized with ketamine sulfate was cannulated via cisternal puncture, and CSF production was recorded. When administered in doses of 25 mg/kg to 45 mg/kg intraperitoneally, THC caused inhibition of CSF flow; in larger doses a smaller response was noted. In response to THC, CSF flow showed an initial drop, a return toward baseline, and a secondary decrease. It is postulated that this biphasic effect is due to a combination of THC's sympathomimetic effects on the CNS plus the local action that this drug has on choroidal synaptosomal neurotransmitters.

Giant intracranial aneurysm in a child with tuberous sclerosis: CT demonstration.

The authors describe the first case of giant intracranial aneurysm in a child with tuberous sclerosis. The subject of vascular disease in this condition is reviewed.

Occipital interhemispheric acute subdural hematoma treated by lambdoid suture tap.

We present the case of a 6-week-old infant with acute subdural hematoma secondary to hemorrhagic disease of the newborn. Computed tomographic scan localization of the collection in the posterior portion of the supratentorial compartment allowed for its removal by lambdoid suture taps. The procedure is described.

Supernumerary small ring chromosome.

A supernumerary small ring chromosome was found in 30% of cultured peripheral leucocytes and 50% of skin fibroblasts in a 6-year-old boy with mild mental retardation and midline cleft palate. The extra chromosome appeared to carry a densely staining region on Giemsa banding. The banding patterns of the remaining 46 chromosomes were normal. C banding indicated that the ring chromosome contained mainly centromeric constitutive heterochromatin. Chromosome analysis of both parents showed normal karyotypes by both conventional and banding techniques; thus the origin of the ring chromosome could not be determined.