[Charcot-Marie-Tooth disease associated with a pyramidal syndrome: clinical, electrophysiological, and neuropathological study of neuro-muscular biopsies in 14 cases]. / La maladie de Charcot-Marie et tooth associée a un syndrome pyramidal: etude clinique, électrophysiologique et neuropathologique des biopsies neuro-musculaires dans 14 cas.

A rare clinical form of Charcot-Marie-Tooth (CMT) disease, estimated at less than 5% by a good many authors, it remains unknown at the neuropathological and genetic level. The prevalance of this form in our areas estimated at 16% allows to discuss its clinical, electrophysiological and neuropathological particularities. To define clinical electrophysiological and neuropathological criteria of neuromuscular biopsies of CMT associated with a pyramidal syndrome. forteen patients presenting a CMT disease associated with a pyramidal sign, sometimes sensory troubles pes cavus and ear and at times eye trouble, an electrophysiological exploration allowed to measure the motor conduction velocity (MCV) of the median nerve and the external popliteal sciatic. A neuromuscular biopsy on the peroneal nerve was performed in all patients with their free consent or that of their parents or relatives when necessary. Semi-thin cuttings coloured with toluidine hue were examined under photonic microscope with x10, x40, and x100 enlargements and the study of the dissociated nervous fibres (teasing) was curried out. The 14 patients aged 8 to 37 years (average 23+/-0.5). 7 females and 7 males clinically presented a CMT disease with a pyramidal syndrome Sensory troubles existed in 8 cases, a lesion of the cranial nerve was observed in 8 cases (II and VII) parental consanguinity existed also in 9 cases. The MCV of the median nerve were more > 40 m/sec in 8 cases whereas in 2 cases they were < 40) m/sec. All muscles showed an atrophy of neurogenous type. In 4 cases the nerves were histologically normal on semi-thin cuttings and <>. There were axonal degeneration lesions in 2 cases only and demyelinating lesions in 6 cases. No onion bulb lesion as observed nor images of regeneration (cluster). The CMT disease associated with a pyramidal syndrome is a clinical entity which constitutes a heterogenous group at the clinical, electrophysiological and anatomo-pathological and probably genetic level. A dominant autosomal transmission and some recessive forms were isolated but the chromosomic anomaly involved remains to be defined.