Ataxia-telangiectasia (Louis–Bar syndrome) is inherited as autosomal recessive and characterized by profound neurological and immune defects associated with telangiectases. The main clinical features are: Progressive cerebellar ataxia, Telangiectases: almost always conjunctival at first, later facial or more widespread. Other skin findings include café-au-lait macules, premature graying, and sclerodermoid changes. Combined immune defects with defects in both humoral and cellular immunity, leading to multiple infections. Endocrine problems, early-onset insulin-resistant diabetes mellitus. Patients who survive infections have 100-fold increased incidence of malignancies, especially lymphoma and leukemia.
This unfortunate child presented with cerebellar ataxia, vitiligo and telangiectasia (conjunctival and labial).