Charcot-Marie-tooth disease presenting in a young Nigerian male: A case report.

  • O Onwuekwe Department of Medicine, University of Nigeria Teaching Hospital, Enugu Nigeria. Department of Medicine, Univerrsity of Nigeria Teaching Hospital, PMB. 1129, Enugu, Nigeria.
  • O Ekenze
  • AC Nwabueze

Abstract



Background: Charcot-Marie-Tooth disease is a heterogeneous group of inherited peripheral neuropathy. It has various genetic and phenotypic characteristics and can be a significant cause of morbidity with severe disabling consequences. Often the diagnosis may be missed. It is not commonly encountered in Nigerian medical clinics and there is no documented prevalence rate for the jcountry. Method: a case report of a 31-year-old man presenting to the medical outpatient clinic of the University of Nigeria Teawching Hospital Enugu with features of Charcot-Marie-Tooth disease is presented. Relevant literature is also reviewed. Result: A thirty three year old Nigerian male presented to the medical clinic with a thirteen-year history of progressive paraesthesiae in the feet, which later involved the hands. This was accompanied seven years later by jgradual onset weakness of the muscles especially the distal group in both upper and lower limbs which led to paralysis. No sphineter involvement. Family history was not contributory. He had typical features of HMSN type I and was a possible proband. Conclusion: Though not common, the inhjerited peripheral neuropathies are a cause of significant morbidity. Whenm recognized there are p[otential issues of genetic counseling that arise kfor which Nigerians are yet to come to terms with.

Keywords: Charcot-Marie-tooth;Inherited ZPeripheral Neuropathies; Nigerian

Journal of College of Medicine Vol. 12 (1) 2007: pp.35-38
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Articles

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eISSN: 1118-2601