Sharma Chandra Mohan, Pandey Rajendra Kumar, Kumawat Banshi Lal, Khandelwal Dinesh
Department of Neurology, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.
Ann Indian Acad Neurol. 2016 Apr-Jun;19(2):267-8. doi: 10.4103/0972-2327.173411.
Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in morning. His EEG was normal and karyotyping revealed trisomy of chromosome 21. Very few cases had been described in literature of late-onset myoclonic epilepsy in DS. This is first case report from India and our aim is to propose the inclusion of this entity in the spectrum of progressive myoclonic epilepsies but still more cases are yet to be found.
认知功能减退和癫痫是唐氏综合征（DS）公认的并发症。在此，我们报告一例28岁男性患者，其表现为进行性精神衰退、步态共济失调和肌阵挛，尤其是在早晨醒来时。他的脑电图正常，染色体核型分析显示21号染色体三体。文献中描述的唐氏综合征迟发性肌阵挛癫痫病例极少。这是来自印度的首例病例报告，我们的目的是建议将这一病症纳入进行性肌阵挛癫痫谱，但仍有待发现更多病例。
