title: Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity.
abstract: This case report is of a patient with 46XY pure gonadal dysgenesis, who presented with chronic progressive motor and sensory polyneuropathy. The sural nerve biopsy exhibited minifascicle formations accompanied by a marked decrease in myelinated fibers. This is the first report of polyneuropathy with minifascicle formations in 46XY pure gonadal dysgenesis. Because a similar polyneuropathy was recently reported in a case with 46XY partial gonadal dysgenesis, it is possible that these cases represent a new type of hereditary motor and sensory neuropathy associated with gonadal dysgenesis.
authors.affiliation: Department of Neurology, Nara Medical University, Nara, Japan. ksugie@ncnp.go.jp
authors.forename: Kazuma
authors.initials: K
authors.lastname: Sugie
authors.forename: Naonobu
authors.initials: N
authors.lastname: Futamura
authors.forename: Akio
authors.initials: A
authors.lastname: Suzumura
authors.forename: Genshu
authors.initials: G
authors.lastname: Tate
authors.forename: Fujio
authors.initials: F
authors.lastname: Umehara
mesh_terms: D001706:Biopsy; D002874:Chromosome Mapping; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications*; D053823:Hedgehog Proteins; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology*; D015534:Trans-Activators / Q000235:genetics
chemical_list: D053823:Hedgehog Proteins; D015534:Trans-Activators