Patient with ataxia telangiectasia undergoing elective staging laparoscopy: A case report and literature review

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. and it often motor confirming identify diagnosed ATM cultured Case A Anaesthesiologist primary planned Khanum Lahore, The had however,

Automated summary

Ataxia telangiectasia is a rare autosomal recessive condition caused by a mutation in the ATM gene, leading to impaired DNA repair and diverse clinical presentations including neurological symptoms and immunodeficiency. Perioperative management should be conducted in a multidisciplinary center under the supervision of senior clinicians.