Résumé :
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Communication n° 519 Background: Abetalipoproteinemia is a very rare autosomal recessive disease caused by mutations in the MTP gene (Microsomal Triglyceride Transfer Protein). The clinical features include gastrointestinal, ophthalmologic, haematological and neurological abnormalities. Objective: To report clinical, biological, electrophysiological and nerve biopsy data of three patients with abetalipoproteinemia belonging to two unrelated Tunisian families (one patient in family 1 and three siblings in family 2). Results: The patients are two males and one female aged respectively 16, 20 and 21years.All patients were symptomatic in early infancy with chronic diarrhoea, retarded growth and cerebellar signs. Pigmentosum retinitis was present in only two patients from two different families. One patient belonging to family 2 had psychomotor delay, kyphoscoliosis and arthrogryposis. Sensorimotor axonal neuropathy was seen in all patients. Acanthocytosis was found in one patient. All patients have biological profiles of Abetalipoproteinemia. Muscle and nerve biopsy showed mild neurogenic features on muscle and a slight reduction in large myelinated fibres in all patients. None of them has been treated regularly by vitamin A and vitamin E supplementation. Conclusion: There was obvious clinical variability between siblings with abetalipoproteinemia. The clinical intrafamilial variability between siblings may be related to environmental factors or modified genes.
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