title: A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study.
abstract: A case is presented of Dejerine-Sottas disease in a 12-year-old boy in which clinical signs made diagnosis of Friedreich's ataxia seem plausible. Based on marked slowing of motor conduction velocity, the sural nerve biopsy findings of a hypertrophic neuropathy with hypo- and demyelination of the nerve fibres, as well as the clinical history, the diagnosis of Dejerine-Sottas disease was made. ABR examination suggested involvement of brain stem at the roots and/or nuclei of the eighth cranial nerve, without involvement of higher structures.
authors.affiliation: Clinica Neurologica, II Policlinico, Napoli, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Barbieri
authors.forename: R
authors.initials: R
authors.lastname: Santangelo
authors.forename: S
authors.initials: S
authors.lastname: Bonuso
authors.forename: L
authors.initials: L
authors.lastname: Chiacchio
authors.forename: L
authors.initials: L
authors.lastname: Santoro
authors.forename: C
authors.initials: C
authors.lastname: Crisci
authors.forename: L
authors.initials: L
authors.lastname: Sequino
authors.forename: F
authors.initials: F
authors.lastname: Mosca
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000473:pathology* / Q000503:physiopathology; D001933:Brain Stem / Q000473:pathology* / Q000503:physiopathology; D003711:Demyelinating Diseases / Q000473:pathology* / Q000503:physiopathology; D005072:Evoked Potentials, Auditory; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000473:pathology* / Q000503:physiopathology; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure