Über die cerebrale Ödemkrankheit des frühen Kindesalters

Zusammenfassung Es wird über einen Fall von cerebraler ödemkrankheit bei einem 5 Monate alt gewordenen Säugling aus klinischer und neuropathologischer Sicht berichtet. Der Fall stimmt in allen wesentlichen Punkten mit den wenigen bisher mitgeteilten Beobachtungen überein. Der pathogenetische Mechanismus des Leidens wird eingehend diskutiert.

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Summary Report of a case of spongy degeneration of the central nervous system in infancy. The patient was a suckling who died in an age of five months.The clinical picture of the disease which is familial in nature and prefers the Jewish race is characterized by convulsions, opisthotonos, spasticity, nystagmus, fever and vomiting or by a slow beginning marked by a failure of mental and motor development. Autopsy findings are a macrocephaly. Microscopically an intense vacuolation of the deep layers of the cortex, the subjacent white matter, the basal ganglia and the cortex cerebelli is seen besides a hyperplasia of the protoplasmic astrocytes. On the basis of clinical and pathological features this disorder was separated from other forms of leukodystrophy in infancy by van Bogaert and Bertrand.The clinical and pathological features of the case reported are in accordance with the few observations published until now. The etiologic and pathogenic mechanism of the disorder, which probably is caused by an autosomal-recessive inherited error of metabolism, is discussed.