未经授权:描述印度报道的第一位佩里综合征患者的特征。
未经证实:一位62岁的绅士出现急性脑病,高碳酸血症,中枢通气不足,和癫痫发作。即使在脑病消退后,他也需要对持续性呼吸衰竭进行通气支持。病史显示有直立性低血压的症状,浅呼吸的发作,步态不稳定,焦虑和抑郁,以及前两年明显的体重减轻。他的母亲和哥哥死于类似的疾病。神经肌肉疾病的调查,包括肌无力和庞氏病,是阴性的。肌营养不良和肌病的基因检测,传染病调查,自身免疫,和副肿瘤疾病阴性。神经影像学和电生理研究不明显。在他住院期间,他出现了僵硬和运动迟缓。
UNASSIGNED:鉴于突出的呼吸衰竭,帕金森病,无法解释的体重减轻,和家族史,他接受了佩里综合症的检查.检测到DCTN1基因外显子2的杂合错义变异,导致脯氨酸在密码子45(pA45P)处取代丙氨酸。在他的临床未受影响的兄弟中未检测到该变体。临床表现和基因检测表明佩里综合征,一种罕见的常染色体显性致命疾病,印度从未报道过。患者通过左旋多巴和神经康复得到改善,但三年后最终死于疾病。
未经证实:佩里综合征,虽然罕见,在有帕金森病家族史和中枢通气不足的患者的鉴别诊断中应考虑。
UNASSIGNED: To characterize the first patient of Perry syndrome reported from India.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: Perry syndrome, though rare, should be considered in the differential diagnosis of patients with a family history of Parkinsonism and central hypoventilation.