A rare neurocutaneous syndrome and a rare association

Abstract EN

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 disorder 2 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.