New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.

Lara Albuquerque BritoPaulo Ribeiro NóbregaDaniel Aguiar DiasAndré Rodrigues Façanha BarretoHermany Capistrano FreitasFernando KokCleonisio Leite Rodrigues

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)

Gonadal dysgenesis with minifascicular neuropathy is a severe autosomal recessive neuropathy characterized by trophic alterations in limbs, sensory ataxia, and distal anesthesia. Nerve ultrasound studies are very suggestive of this condition and may help to avoid invasive nerve biopsies.

Keyphrases

peripheral nerve
magnetic resonance imaging
early onset
ultrasound guided
minimally invasive
intellectual disability
contrast enhanced ultrasound
computed tomography
drug induced
muscular dystrophy
germ cell