new type of HMSN/CMT : Motor-sensory neuropathy without minifascicles in a patie

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Brain Dev. 2007 Sep 1

Motor-sensory neuropathy without minifascicles in a patient with

46XY gonadal dysgenesis.

Malandrini A, Gambelli S, Muglia M, Berti G, Gaudiano C, Patitucci

A, Sugie K, Umehara F, Quattrone A, Dotti MT, Federico A.

Unit of Neurometabolic Disease, Department of Neurological and

Behavioural Sciences, University of Siena, Italy.

We report a 36-year-old patient with 46XY pure gonadal dysgenesis

(GD), who manifested a syndrome of progressive motor-sensory

neuropathy. Sural nerve biopsy showed severe axonal neuropathy.

Since reported cases of chronic motor-sensory neuropathy and pure

gonadal dysgenesis have been characterized by nerve biopsy evidence

of minifascicle formation, we suggest that this clinical association

may be a new type of hereditary motor-sensory neuropathy, not

necessarily associated with minifascicle formation