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Brain, Vol. 110, No. 1, 121-148, 1987
© 1987 Oxford University Press

research-article

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

A STUDY OF HYPERTROPHIC CHARCOT-MARIE-TOOTH DISEASE (HMSN TYPE I) AND DEJERINE-SOTTAS DISEASE (HMSN TYPE III) IN CHILDHOOD

ROBERT A. OUVRIER1,, JAMES G. MCLEOD2 and THERESE E. CONCHIN2

1From the Department of Neurology, The Children's Hospital Camperdown 2From the Department of Medicine, University of Sydney NSW, Australia

Correspondence to: Correspondence to: Dr R. A. Ouvrier, Department of Neurology, The Children's Hospital, PO Box 34, Camperdown, NSW, 2050 Australia.

The clinical and histopathological features in sural nerve biopsies from 10 cases of dominantly inherited hypertrophic Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy (HMSN), type I) presenting in childhood are contrasted with those of 6 cases of Dejerine-Sottas disease (HMSN type III). There was a significantly greater incidence of ataxia, areflexia and clinical nerve enlargement in HMSN type III. In HMSN type III, there was also (1) a significantly lower density of myelinated fibres 8n or more in diameter, (2) a greater frequency of onion bulbs, (3) more lamellae per onion bulb and, (4) a higher ratio of mean axon diameter to fibre diameter. The functional severity of the HMSN type III cases was not markedly worse than those with HMSN type I. Using these parameters, it was possible to attempt classification of sporadic cases of hereditary motor and sensory neuropathy. Cerebrospinal fluid protein levels were unreliable in distinguishing the two types of neuropathy.

Received September 12, 1985. Revised March 11, 1986. Accepted April 10, 1986.


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