智力残疾、跌倒与步态障碍：一种误诊情况
Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis.
作者信息
Lorenzo Villalba Noel, Díaz Nicolas Santiago, Alonso Ortiz Maria Belen, Cordoba Sosa Zaida, Suárez Ortega Saturnino, Zulfiqar Abrar-Ahmad
机构信息
Service de Médecine Interne, Diabète et Maladies Métaboliques, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Neurology Department, Dr Negrin University Hospital, Las Palmas de Gran Canaria, Spain.
出版信息
Eur J Case Rep Intern Med. 2020 Feb 13;7(3):001488. doi: 10.12890/2020_001488. eCollection 2020.
UNLABELLED
We report the case of a 27-year-old man presenting with slowly progressive extrapyramidal dysfunction and learning disability considered to have a syndromic intellectual disability. The re-evaluation of the clinical features and the investigations performed led to the diagnosis of atypical pantothenate kinase-associated neurodegeneration (PKAN).
LEARNING POINTS
Patients with an intellectual disability should be carefully evaluated.In the evaluation of a patient with extrapyramidal dysfunction for several years, with gradual progression, spasticity and psychiatric disturbances, PKAN should be considered.
未标注
我们报告了一例27岁男性病例，该患者表现为缓慢进展的锥体外系功能障碍和学习障碍，被认为患有综合征性智力障碍。对临床特征的重新评估以及所进行的检查导致非典型泛酸激酶相关神经变性（PKAN）的诊断。
学习要点
对智力障碍患者应进行仔细评估。在评估一名患有数年锥体外系功能障碍、病情逐渐进展、伴有痉挛和精神障碍的患者时，应考虑PKAN。
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