T cell ALL in a child with Ataxia telangiectasia; diagnosis and
management challenge
Abstract
Ataxia telangiectasia (A-T) is a rare childhood autosomal recessive
neurodegenerative chromosomal instability disorder. It is characterized
by high risk of hematological malignancies with T-cell phenotype being
the most common, which can present first before the diagnosis of A-T
made. The chromosomal instability in A-T increases the toxicity to
radio- chemotherapeutic agents, creating the treatment modification
challenges and the deviation from the optimal management protocols. In
this case report we present a 14-month-old boy diagnosed as T cell
–ALL. Based on his early presentation, family history of childhood
lymphoma, and high AFP, inherited predisposition was suspected, and
genetic testing confirm A-T. This report represents the crucial part of
clinical suspicion of A-T in similar cases as well as highlighting the
importance of an early A-T diagnosis that prevents toxic death due to
the extensive regimen of radio- chemotherapeutic agents. The report
summarizes the toxicity and modification challenges during management
with literature review for the chemotherapy modification experience in
such cases.