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The Andermann Syndrome: Agenesis of the Corpus Callosum Associated with Mental Retardation and Progressive Sensorimotor Neuronopathy

Published online by Cambridge University Press:  18 September 2015

Albert Larbrisseau ,
Michel Vanasse ,
Pierre Brochu  and
Gaétan Jasmin
Albert Larbrisseau*
Affiliation:
Service de Neurologic Département de Pédiatrie. Hôpital Sainte-Justine. Université de Montréal. (Drs. Larbrisseau and Vanasse) and the Département de Pathologie, Hôpital Sainte-Justine. Université de Montréal. (Drs. Brochu and Jasmin)
Michel Vanasse
Affiliation:
Service de Neurologic Département de Pédiatrie. Hôpital Sainte-Justine. Université de Montréal. (Drs. Larbrisseau and Vanasse) and the Département de Pathologie, Hôpital Sainte-Justine. Université de Montréal. (Drs. Brochu and Jasmin)
Pierre Brochu
Affiliation:
Service de Neurologic Département de Pédiatrie. Hôpital Sainte-Justine. Université de Montréal. (Drs. Larbrisseau and Vanasse) and the Département de Pathologie, Hôpital Sainte-Justine. Université de Montréal. (Drs. Brochu and Jasmin)
Gaétan Jasmin
Affiliation:
Service de Neurologic Département de Pédiatrie. Hôpital Sainte-Justine. Université de Montréal. (Drs. Larbrisseau and Vanasse) and the Département de Pathologie, Hôpital Sainte-Justine. Université de Montréal. (Drs. Brochu and Jasmin)
*
Service de Neurologie. Hôpital Sainte-Justine. 3175 Côte Ste-Catherine. Montréal. Québec H3T 1C5
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Abstract:

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Andermann et al. described in 1972 an autosomal recessive inherited syndrome which associates agenesis of the corpus callosum, mental deficiency, and a peripheral motor deficit. We had the opportunity to study in detail 15 patients affected by this syndrome. As in the cases previously reported, the families of these children all originated from Charlevoix County and the Saguenay-Lac St-Jean area in the Province of Quebec.

Clinically, these patients have a characteristic facies and moderate mental retardation associated with a progressive motor neuropathy leading to loss of ambulation by adolescence and progressive scoliosis. In 13 of these 15 patients, neuroradiological investigation has shown either total or partial agenesis of the corpus callosum. In every patient in whom these tests were done, sensory nerve action potentials were absent and motor nerve conduction velocities reduced. We also found neurogenic abnormalities both on EMG and neuromuscular biopsies. These abnormalities are similar to those described in Friedreich’s ataxia and in hereditary motor and sensory neuropathy type II, although in our patients the motor deficit is much more severe than in these diseases.

The pathogenesis of the peripheral nervous system involvement is still unknown since there have so far been no autopsy studies of this syndrome.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue 2 , May 1984 , pp. 257 - 261
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

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