An unusual association of a rare variant of Friedreich's ataxia with type-I neurofibromatosis in a Nigerian Fulani family: a 5-year follow-up study.
A very rare form of heredofamilial spinocerebellar degenerative disorder is reported in a 12-year old boy and his 39-year old Fulani mother. The two cases were compatible with the clinical picture of Harding's variant of spastic ataxia of childhood--a clinical and genetic entity distinct from the more common Friedreich's ataxia. The mode of progression of the disease and the computed tomographic (CT) and electrophysiologic findings in both patients also support the diagnosis. In addition, the mother had the typical clinical picture of type-1 neurofibromatosis combined with the rare heredofamilial ataxic syndrome. The signs of neurofibromatosis could not be detected in her child. The cases were followed up regularly for 5 years with the aim of identifying possible complications. These cases are reported because of the extreme rarity of Harding's variant of heredofamilial ataxia and the rarity of the association of this disorder with type-1 neurofibromatosis.
Ahmed
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Department of Paediatrics Usmanu Danfodiyo, University Teaching Hospital, Sokoto, Nigeria.
Falope
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D000328:Adult; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D005621:Friedreich Ataxia / Q000145:classification / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009549:Nigeria; D010375:Pedigree