Abstract

A case of severe neurogenic arthrogryposis multiplex congenita caused by absence of peripheral nerve myelin in an infant who died at age 31 days of aspiration pneumonia is described from the Dept of Neurology, Neuromuscular Division, Johns Hopkins University School of Medicine, Baltimore, MD.

Highlights

  • Described by Pelizaeus in 1885 and by Merzbacher in 1910, this heredofamilial disease transmitted as an X-linked recessive character and occurring in males is a slowly progressive leukodystrophy with a long course, patients not infrequently surviving into middle age

  • A case of severe neurogenic arthrogryposis multiplex congenita caused by absence of peripheral nerve myelin in an infant who died at age 31 days of aspiration pneumonia is described from the Dept of Neurology, Neuromuscular Division, Johns Hopkins University School of Medicine, Baltimore, MD

  • Absence of myelin in the peripheral nerves at autopsy reflected an arrest in the differentiation or maturation of Schwann cells at the stages of elongation and longitudinal growth of the mesaxon

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Summary

Introduction

A case of severe neurogenic arthrogryposis multiplex congenita caused by absence of peripheral nerve myelin in an infant who died at age 31 days of aspiration pneumonia is described from the Dept of Neurology, Neuromuscular Division, Johns Hopkins University School of Medicine, Baltimore, MD. Described by Pelizaeus in 1885 and by Merzbacher in 1910, this heredofamilial disease transmitted as an X-linked recessive character and occurring in males is a slowly progressive leukodystrophy with a long course, patients not infrequently surviving into middle age. When the family history is negative, as in the above case, confirmation of the diagnosis during life is difficult but may be facilitated by the MRI findings and may permit appropriate genetic counseling.

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