A rare neurocutaneous syndrome and a rare association

Abstract

Among the many causes of ataxia, Ataxia -telangictasia is an autosomal recessive¹, multi system disease affecting the skin, nervous system & immune system. It's prevalence has been estimated at 1 to 2 per 100,000 It is a neurodegenerative disorder² in which there is progressive cerebellar ataxia, occulocutaneous telangictasias, chronic sinopulmonary disease & high incidence of malignancy associated with variable humoral & cellular immuno deficiency. The abnormal gene has been mapped to the long arm of chromosome 11 (ATM gene)³ . Carriers has increased sensitivity to ionizing radiation⁴. Telangicatsias tends to develop between the ages of 3-6 years. It also affects the ears, eye lids immunologic abnormality is selective absence of IgA found in 50-80 % ,IgG may also be affected. The T cells percentage is reduced in total & T Helper (CD4) phenotype, with normal or increased percentages of the Suppressor ( CD8). Hodgkin's, non Hodgkin's lymphoma⁵ & leukemia⁶  develops in 10 % of cases⁶ . Other variable body tumors may occur. These patients may become critically ill and need intense care to prevent serious complications or death⁷. The syndrome is associated with abnormal IgA levels with a higher risk of blood malignancies like lymphoma or leukaemia, patients may have telangiectasia else were in the body specially the upper respiratory tract. The is a case report about one of this rare neuro- cutaneous syndromes which was reported in Khartoum Sudan. Consent from the parents was taken for the purpose of publication and teaching.

Keywords: Ataxia telangiectasia, Sudan, Rare association