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.

Malandrini, A., Gambelli, S., Muglia, M., Berti, G., Gaudiano, C., Patitucci, A., et al. (2008). Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis. BRAIN & DEVELOPMENT, 30(4), 291-294 [10.1016/j.braindev.2007.07.010].

Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.

MALANDRINI, ALESSANDRO;BERTI, GIANNA;DOTTI, MARIA;FEDERICO, ANTONIO
2008

Abstract

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.
Malandrini, A., Gambelli, S., Muglia, M., Berti, G., Gaudiano, C., Patitucci, A., et al. (2008). Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis. BRAIN & DEVELOPMENT, 30(4), 291-294 [10.1016/j.braindev.2007.07.010].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/26457
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