Öksüz Nevra, Kömür Mustafa, Doğu Okan
Mersin University School of Medicine, Department of Neurology, Mersin, Turkey.
Mersin University School of Medicine, Department of Child Neurology, Mersin, Turkey.
Noro Psikiyatr Ars. 2023 Feb 20;60(1):87-89. doi: 10.29399/npa.28058. eCollection 2023.
The Westphal variant of Huntington's disease (HD) is a progressive neurodegenerative disease characterized by a rigid-hypokinetic syndrome rather than choreiform movements. This variant is a distinct clinical entity of HD and is often associated with a juvenile onset of the disease. We present the case of a 13-year-old patient diagnosed with the Westphal variant with an onset at approximately 7 years of age and primarily exhibited developmental delay and psychiatric symptoms. In the light of findings from both physical and clinical examinations, possible difficulties in the diagnosis and treatment of juvenile HD are discussed in here.
亨廷顿舞蹈病(HD)的韦斯特法尔变异型是一种进行性神经退行性疾病,其特征为强直 - 运动减少综合征而非舞蹈样动作。这种变异型是HD的一种独特临床实体,常与疾病的青少年发病相关。我们报告一例13岁患者,被诊断为韦斯特法尔变异型,发病年龄约为7岁,主要表现为发育迟缓及精神症状。根据体格检查和临床检查结果,本文讨论了青少年HD诊断和治疗中可能存在的困难。