Ataxia‐Telangiectasia

Patient 1 (M.E.) This lad is the sibling of Patients 2 and 3. He presented at the age of three years and three months because of poor coordination. He walked at 13 months but his movements were unsteady with some athetoid features. On examination he was noted to have ataxia of all limbs though the deep tendon reflexes were normal. He had telangiectases on the bulbar conjunctiva and on his ears. This combination, together with the family history of two siblings with a similar history and findings, established the diagnosis of ataxia-telangiectasia. The disease progressed over the years with increasing neurological deficit. At the age of 11 years he developed enlargement of lymph nodes in the groins and neck. Biopsy of one of the groin lymph nodes established the diagnosis of lymphoblastic lymphosarcoma. Treatment with cyclophosphamide was commenced and continued for eight months but was stopped when he developed haemorrhagic cystitis approximately two weeks before his death. Terminally the blood picture was leukaemic. Post mortem examination confirmed leukaemic lymphosarcoma infiltrating thymus, lymph nodes, kidneys and liver. The immediate cause of death was the result of anaemia and chronic granulomatous pneumonitis due to Candida albicans. The thymus was diffusely infiltrated with leukaemic cells but careful search failed to reveal any Hassall's corpuscles. The cerebellum showed a patchy but extensive loss of Purkinje cells. Testes were markedly atrophic.