Department of Anaesthesia, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.
J Pak Med Assoc. 2021 Nov;71(11):2656-2658. doi: 10.47391/JPMA.01740.
Ataxia telangiectasia is a rare autosomal recessive condition which develops due to a mutation in the ataxia telangiectasia mutated gene (ATM gene). As a result of this mutation, the ability of the DNA to undergo repair is undermined. The resulting cellular demise is responsible for the diverse presentation of the clinical condition. Neurological symptoms such as cerebellar ataxia, abnormal eye movements and malignancies occur commonly, while immunodeficiency predisposes these patients to recurrent infections. Perioperative management of patients with this rare condition can be associated with increased morbidity. Therefore, it is recommended that patients with ataxia telangiectasia should be managed in a multidisciplinary centre, under the supervision of senior clinicians who have the insight into the clinical needs of such patients. We report herein, the perioperative management of a patient with ataxia telangiectasia undergoing laparoscopic procedure. This case report will allow the readers to increase their knowledge and understanding when it comes to the management of these patients.
毛细血管扩张性共济失调症是一种罕见的常染色体隐性遗传疾病，由于毛细血管扩张性共济失调突变基因（ATM 基因）发生突变而导致。由于这种突变，DNA 进行修复的能力受到破坏。由此导致的细胞死亡是导致这种临床状况的多种表现的原因。常见的神经症状包括小脑共济失调、眼球运动异常和恶性肿瘤，而免疫缺陷使这些患者容易反复感染。患有这种罕见疾病的患者的围手术期管理可能会增加发病率。因此，建议毛细血管扩张性共济失调症患者应在多学科中心接受管理，由具有此类患者临床需求洞察力的资深临床医生进行监督。我们在此报告一例接受腹腔镜手术的毛细血管扩张性共济失调症患者的围手术期管理。本病例报告将使读者在管理此类患者时增加知识和理解。
