[Parkinsonian syndromes in children].
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Biomedical subjects
Publications and source records attributed to A Chutorian.
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An 8-year-old boy developed generalized tonic spasms lasting minutes accompanied by an electrodecremental event on electroencephalogram in association with increased intracranial pressure caused by shunt malfunction. The electroencephalographic abnormalities and clinical attacks occurred despite an otherwise normal neurologic examination, normal initial opening pressure on lumbar puncture and shunt tap, and only mild ventricular dilation revealed by brain imaging. There was no improvement with antiepileptic drugs. Further signs of uncal herniation led to repeat tap of the shunt, revealing a pressure of 800 mm of water. After revision of the shunt "seizures" stopped and the electroencephalogram returned to normal. Antiepileptic drugs were discontinued, with no recurrence of events.
A 4-year-old boy with transient erythroblastopenia of childhood (TEC) presented with papilledema and transient hemiparesis. Upon spontaneous hematologic recovery, the papilledema resolved. It is concluded that TEC, like other forms of anemia, may present with papilledema and even focal neurologic deficit, from which spontaneous recovery may be anticipated.
Three children with an acute self-limited syndrome characterised by painful dysaethesias, hypertension, and autonomic dysfunction, in the absence of motor and reflex abnormalities, are presented. They appear to have had a variant of acute polyneuritis involving sensory and autonomic systems. The pathophysiology of hypertension in the Guillain-Barré syndrome and of acute pandysautonomia is discussed. Excessive adrenergic function is considered as a cause of the pain component of the syndrome.
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A boy with mild hand tremor since age 2 1/2 was found at 4 to have cherry-red spots and mild trucal ataxia without seizures or dementia. Biochemically, he had striking hexosaminidase deficiency (serum: 4.6 percent of normal, 88.9 percent heat-labile; leukocyte: 2.2 percent of normal, 84.6 percent heat-labile; fibroblast 12.8 percent normal, 93.1 percent heat-labile). The residual hexosaminidase activity migrated electrophoretically in two bands. The major band comigrated with hexosaminidase A, the minor with hexosaminidase S. Hexosaminidase B was totally absent. The parents had partially reduced hexosaminidase with a decreased heat-stabile fraction. This disorder may result from a new mutation closely related to that causing Sandhoff-Jatzkewitz disease.
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Children presenting after trauma with headache, seizures, hemiplegia and coma may have an intracranial dissecting aneurysm. Specific angiographic findings provide confirmation of this diagnosis. The dissection occurs subintimally and differs clinically and pathologically from dissecting aneurysms of extracranial arteries. The course in children beyond infancy is catastrophic, justifying consideration of potentially life saving surgical intervention.