Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.

Background: Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD-AD) is a disorder characterized clinically by humeropelvic weakness, contractures, and cardiomyopathy, and genetically by mutations in the lamin A/C gene on 1q21.2-q21.3.

Hereditary neuropathy with liability to pressure palsies in children.

The clinical and neurophysiologic findings of two children presenting with focal weakness and atrophy in unusual nerve distributions and no apparent antecedent injuries are reported. Patient 1 presented with a droopy left shoulder that was initially attributed to scoliosis. Patient 2 presented with right biceps brachii atrophy that was first brought to his parent's attention during a routine physical examination.

Termination of nutrition and hydration in a child with vegetative state.

A child in a vegetative state may present difficult decisions for physicians and families regarding the course of treatment. We report a case of a child who entered a prolonged vegetative state following status epilepticus. The child's parents requested termination of artificial means of nutrition and hydration.

Familial band heterotopias simulating tuberous sclerosis.

We report the clinical and neuroimaging findings of a mother and daughter with seizure disorders and band heterotopias seen on magnetic resonance imaging studies. These clinicoradiologic findings simulate those for a diagnosis of tuberous sclerosis complex. Clinicians should be aware of this migrational anomaly and its neuroimaging characteristics, as well as the potential for this specific migrational anomaly to be genetically transmitted.

Focal cerebral deficits in severe hypomagnesemia.

Hypomagnesemia has been associated with multiple neurologic abnormalities, including irritability, seizures, paralysis, and choreiform movements. A patient with short gut syndrome who developed severe hypomagnesemia during an intercurrent diarrheal illness is reported. This patient had a transient neurologic syndrome consisting of hemiparesis, mental status changes, and aphasia which resolved as the magnesium levels returned to normal.

Primary lateral sclerosis in a child.

Primary lateral sclerosis (PLS), previously undescribed in children, is characterized by a spastic motor deterioration and pathologic demonstration of corticospinal tract degeneration. We report an infant who, before 12 months of age, developed a progressive motor disease characterized by generalized spasticity. He died at 47 months, and neuropathologic examination revealed only corticospinal tract degeneration.

Neurologic manifestations of Schoenlein-Henoch purpura: report of three cases and review of the literature.

Three patients developed prominent neurologic symptoms and signs associated with Schoenlein-Henoch purpura. A 7 1/2-year-old boy was seen with status epilepticus after a 2-week history of generalized headaches, irritability, and intermittent colicky abdominal pain. A left hemiparesis and a left homonymous hemianopia with a right gaze preference that were present on initial examinations gradually resolved, but a mild left arm paresis persisted.