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CC BY-NC-ND 4.0 · Indian J Med Paediatr Oncol 2011; 32(04): 217-222
DOI: 10.4103/0971-5851.95145
CASE REPORT

Ataxia telangiectasia: A report of two cousins and review of literature

Anjali Sharma
Department of Pathology, PGIMER, Dr. RML Hospital, New Delhi, India
,
Gurdeep Buxi
Department of Pathology, PGIMER, Dr. RML Hospital, New Delhi, India
,
Rajbala Yadav
Department of Pathology, PGIMER, Dr. RML Hospital, New Delhi, India
,
Ashok Kohli
Department of Pediatrics, PGIMER, Dr. RML Hospital, New Delhi, India
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Abstract

Ataxia telangiectasia (AT) is a rare multisystem, neurodegenerative genetic disorder. Due to its wide clinical heterogeneity, it often leads physicians to an incorrect or missed diagnosis, and insight into this rare disease is important. Here is a case report of two cousins from the same family who showed salient characteristic features of AT along with the incidental finding of co-inheritance of hemoglobin E trait. Though both of them were from the same family, they showed differences in the type of humoral immune deficiencies, laboratory findings, and their susceptibility to develop different types of malignancies. One of them developed T cell acute lymphoblastic leukemia, isolated immunoglobulin A deficiency, and normal serum carcinoembryonic antigen (CEA) and carbohydrate antigen 19.9 (CA 19.9) levels. He expired at the age of nine years. The other, though a year older, has still got normal blood counts, normal immunoglobulin levels, and elevated serum CEA and CA 19.9 levels. Thus, insight into this disease is very important as AT patients require protection from unnecessary exposure to ionizing radiation to prevent malignancies. Diagnosis of AT allows appropriate genetic counseling for the family.

Keywords

Ataxia telangiectasia - hemoglobin E - T cell acute lymphoblastic leukemia - humoral immunodeficiency


Publication History

Article published online:
06 August 2021

© 2011. Indian Society of Medical and Paediatric Oncology. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/.)

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