Pediatric Hematology Oncology department, Princess Nora Oncology center, King Abdul-Aziz Medical city, Jeddah, Saudi Arabia.
Pediatric department, Maternity and Children Hospital, Dammam, Saudi Arabia.
Hematology. 2021 Dec;26(1):348-354. doi: 10.1080/16078454.2021.1908725.
Ataxia telangiectasia (A-T) is a rare childhood autosomal recessive neurodegenerative chromosomalin stability 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 chromosomalin stability 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 confirms 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.
毛细血管扩张性共济失调症(A-T)是一种罕见的儿童常染色体隐性神经退行性染色体不稳定性疾病。它的特征是血液系统恶性肿瘤风险高,其中 T 细胞表型最为常见,在 A-T 诊断之前可能首先出现。A-T 的染色体不稳定性会增加放射化学治疗药物的毒性,从而带来治疗调整的挑战和偏离最佳管理方案。在本病例报告中,我们介绍了一位 14 个月大的男孩,被诊断为 T 细胞急性淋巴细胞白血病。基于他的早期表现、家族中儿童淋巴瘤病史和高 AFP,怀疑存在遗传易感性,基因检测证实为 A-T。本报告代表了在类似病例中临床怀疑 A-T 的关键部分,强调了早期 A-T 诊断的重要性,以避免因广泛的放射化学治疗方案而导致毒性死亡。报告总结了此类病例中化疗调整经验的文献综述中管理过程中的毒性和调整挑战。