A rare case of ataxia telangiectasia with intracranial tumor

Abstract

Ataxia telangiectasia is a rare autosomal recessive multisystem disorder results in neurodegeneration, variable immunological abnormality that leads to recurrent sinopulmonary infection, febrile episodes, progressive cerebellar ataxia, ocular, and cutaneous telangiectasias. We report a case of 3-year-old Indian boy with recurrent episodes of fever and sinopulmonary infection and repeated hospitalization, rapidly progressive neurological symptoms. On clinical examination no ophthalmological or dermatological lesion was detected. On laboratory and immunological investigation polymorphonuclear leukocytosis with mild normocytic hypochromic anemia, IgA level of 39 mg/dl, alphafetoprotein level of 35 IU/L and normal interictal EEG was noted. Nerve conduction studies (NCS) was suggestive of wide spread early demyelinating polyradiculopathy. MRI shows a suprasellar tumor. The patient was diagnosed to be Ataxia telangiectasia (AT) according to diagnostic criteria of Ataxia-Telangiectasia Clinical Center. Patient was treated with pulse methyl prednisolone and IVIG. Further CD4/CD8 count, IgG subfraction estimation, leucocyte phagocytic activity and mutation analysis of ATM gene should be done to confirm the diagnosis.

Keywords

• Alphafetoprotein
• ataxia telangiectasia
• cerebellar ataxia
• suprasellar tumor