Krishnan Pramod, Sarma Gosala R K, Murgod Uday, Srinivas Murali, Roy Ajit K
Department of Neurology, Manipal Hospital, Bengaluru, Karnataka, India.
Department of Neurology, St Johns Medical College and Research Centre, Bengaluru, Karnataka, India.
Ann Indian Acad Neurol. 2022 Jul-Aug;25(4):703-706. doi: 10.4103/aian.aian_890_21. Epub 2022 Jun 21.
To characterize the first patient of Perry syndrome reported from India.
A 62-year-old gentleman presented with acute encephalopathy, hypercapnia, central hypoventilation, and seizures. He required ventilatory support for persistent respiratory failure even after the resolution of the encephalopathy. History revealed symptoms of orthostatic hypotension, episodes of shallow breathing, unsteadiness of gait, anxiety and depression, and significant weight loss for the previous two years. His mother and elder brother had succumbed to a similar illness. Investigations for neuromuscular diseases, including myasthenia and Pompes disease, were negative. Genetic tests for muscular dystrophies and myopathies, investigations for infectious, autoimmune, and para-neoplastic diseases were negative. Neuroimaging and electrophysiological studies were unremarkable. During his hospital stay, he developed rigidity and bradykinesia.
In view of the prominent respiratory failure, Parkinsonism, unexplained weight loss, and family history, he was tested for Perry syndrome. A heterozygous missense variation in Exon 2 of the DCTN1 gene that results in the substitution of Proline for Alanine at codon 45 (pA45P) was detected. This variant was not detected in his clinically unaffected brother. The clinical presentation and genetic test indicate Perry syndrome, a rare autosomal dominant fatal disease, which has never been reported from India. The patient improved with Levodopa and neurorehabilitation but eventually succumbed to his illness three years later.
Perry syndrome, though rare, should be considered in the differential diagnosis of patients with a family history of Parkinsonism and central hypoventilation.
对印度报道的首例佩里综合征患者进行特征描述。
一名62岁男性出现急性脑病、高碳酸血症、中枢性通气不足和癫痫发作。即使脑病缓解后，他仍因持续性呼吸衰竭需要通气支持。病史显示有直立性低血压症状、浅呼吸发作、步态不稳、焦虑和抑郁，以及过去两年体重显著减轻。他的母亲和哥哥死于类似疾病。对包括重症肌无力和庞贝病在内的神经肌肉疾病的检查均为阴性。对肌肉萎缩症和肌病的基因检测、对感染性、自身免疫性和副肿瘤性疾病的检查均为阴性。神经影像学和电生理研究无异常。在住院期间，他出现了强直和运动迟缓。
鉴于突出的呼吸衰竭、帕金森综合征、不明原因的体重减轻和家族史，对他进行了佩里综合征检测。检测到DCTN1基因外显子2中的一个杂合错义变异，该变异导致密码子45处的脯氨酸被丙氨酸替代（pA45P）。在他临床未受影响的哥哥中未检测到该变异。临床表现和基因检测表明为佩里综合征，这是一种罕见的常染色体显性致命疾病，此前印度从未有过报道。患者使用左旋多巴和神经康复治疗后病情有所改善，但最终在三年后病逝。
佩里综合征虽然罕见，但在有帕金森综合征和中枢性通气不足家族史的患者鉴别诊断中应予以考虑。
