A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study.
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.
Barbieri
F
F
Clinica Neurologica, II Policlinico, Napoli, Italy.
Santangelo
R
R
Bonuso
S
S
Chiacchio
L
L
Santoro
L
L
Crisci
C
C
Sequino
L
L
Mosca
F
F
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