Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.
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
Alessandro
A
Unit of Neurometabolic Disease, Department of Neurological and Behavioural Sciences, University of Siena, Italy. malandrini@unisi.it
Gambelli
Simona
S
Muglia
Maria
M
Berti
Gianna
G
Gaudiano
Carmen
C
Patitucci
Alessandra
A
Sugie
Kazuma
K
Umehara
Fujio
F
Quattrone
Aldo
A
Dotti
Maria Teresa
MT
Federico
Antonio
A
D000328:Adult; D001369:Axons / Q000473:pathology*; D001706:Biopsy; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000235:genetics; D053823:Hedgehog Proteins / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D013497:Sural Nerve / Q000473:pathology
C509245:DHH protein, human; D053823:Hedgehog Proteins