Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis.
A patient with mixed gonadal dysgenesis showed glove and stocking-type sensory impairment and slowing of motor and sensory nerve conduction. Sural nerve biopsy revealed minifascicular formation with decreased density of myelinated fibers. As far as we are aware, this is the first report of polyneuropathy with minifascicular formation in 46XY mixed gonadal dysgenesis.
Umehara
F
F
The Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.
Yamaguchi
N
N
Kodama
D
D
Takenaga
S
S
Kiwaki
T
T
Sonoda
Y
Y
Arimura
Y
Y
Yamada
H
H
Arimura
K
K
Osame
M
M
D000328:Adult; D001706:Biopsy; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008475:Median Nerve / Q000503:physiopathology; D008854:Microscopy, Electron; D009431:Neural Conduction; D011115:Polyneuropathies / Q000235:genetics / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D014960:X Chromosome; D014998:Y Chromosome