ATAXIA TELANGIECTASIA WITH LIVER LEIOMYOMA: A RARE OCCURRENCE

Dr Sandesh Guleria, Dr Ankur Kumar Jindal, Dr Ankur Dharmani, Dr. Amit Rawat, Dr Amanjit Bal, Dr Prema Menon, Dr Deepti Suri, Dr Surjit Singh

Abstract


Ataxia telangiectasia (A-T) is a primary immunodeficiency disorder characterized by recurrent sinopulmonary infections, oculocutaneous
telangiectasia, progressive neurodegeneration and cerebellar ataxia. It is an autosomal recessive disorder. Patients with A-T have an increased risk
of malignancies including heterozygous carriers who may otherwise be phenotypically normal. Benign tumors such as leiomyoma has also been
reported rarely in A-T patients. We report a young child with A-T who was followed up as combined immunodeficiency, subsequently developed
ataxia, telangiectasia and later developed leiomyoma of the liver, a hitherto unreported malignancy in A-T.


Keywords


Ataxia Telangiectasia; Leiomyoma; Immunodeficiency; Malignancy; Pneumonia

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