Journal article

PELIZAEUS-MERZBACHER DISEASE - CLASSICAL OR CONNATAL

IE SCHEFFER, M BARAITSER, J WILSON, B HARDING, B KENDALL, EM BRETT

NEUROPEDIATRICS | HIPPOKRATES VERLAG GMBH | Published : 1991

Abstract

The clinical features and investigation results of 7 patients with Pelizaeus-Merzbacher disease (PMD) are described; one patient had a brain biopsy and two patients had an autopsy. This paper tries to differentiate the clinical features of the connatal and classical types of PMD. Transient stridor and nystagmus were early signs in both types of PMD. Our findings support the view that the more severe connatal form shows rapid neurological deterioration from an early age leading to death usually in the first decade. In younger patients in whom the evolution is still unclear, severe feeding problems and extrapyramidal features may suggest the connatal form. By contrast, in the classical form of..

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University of Melbourne Researchers