Neuropediatrics 1991; 22(2): 71-78
DOI: 10.1055/s-2008-1071420
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Pelizaeus-Merzbacher Disease: Classical or Connatal?

I. E. Scheffer1 , M.  Baraitser2 , J.  Wilson1 , B.  Harding4 , B.  Kendall3 , E. M. Brett1
  • 1Department of Neurology, The Hospital for Sick Children, Great Ormond Street, London, WC1N 3JH, England
  • 2Department of Clinical Genetics, The Hospital for Sick Children, Great Ormond Street, London, WC1N 3JH, England
  • 3Department of Radiology, The Hospital for Sick Children, Great Ormond Street, London, WC1N 3JH, England
  • 4Department of Pathology, The Hospital for Sick Children, Great Ormond Street, London, WC1N 3JH, England
Further Information

Publication History

Publication Date:
19 March 2008 (online)

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 inclear, severe feeding problems and extrapyramidal features may suggest the connatal form. By contrast, in the classical form of PMD, cerebellar signs and cognitive deterioration are more prominent with a more slowly progressive course.

Nuclear magnetic resonance imaging and brainstem auditory evoked potentials were very helpful in supporting the diagnosis of PMD either in a known affected family or in sporadic cases, but were not useful in distinguishing between the two types of PMD. Genetic counselling in this condition is difficult, particularly in the connatal form in which inheritance may be either X-linked or autosomal recessive.

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