CMT associated with a pyramidal syndrome

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Dakar Med. 2002;47(2):182-7.

Charcot-Marie-Tooth Disease associated with a pyramidal syndrome : a

clinical, electrophysiological and neuropathological study of neuro-

muscular biopsies in 14 cases

Thiam A, Sene FD, Ndao AK, Ndiaye M, Ndiaye IP.

Clinique Neurologique du CHU de Dakar.

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 <<teasing>>. 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.