KIST Medical College and Teaching Hospital, Gwarko, Lalitpur, Nepal.
Department of Neurology, National Neuro Center, Maharajgunj, Kathmandu, Nepal.
JNMA J Nepal Med Assoc. 2022 Dec 1;60(256):1063-1065. doi: 10.31729/jnma.7950.
Down syndrome is a genetic disorder caused by an extra copy of chromosome number 21. New onset of seizure in adults with Down syndrome is rare. The exact pathogenesis of intracranial calcification and seizure in Down syndrome is unknown, however, a possible association between hypocalcemia and vitamin D deficiency in Down syndrome was reported. An 18-year-old girl with nasal bridge, mongoloid slants, clinodactyly and saddle gap of toes, and prominent Downs phenotypes was present with a low level of parathyroid hormone, calcium, and vitamin D. Due to a higher prevalence of intracranial calcification in people with Down syndrome, there is an increased possibility of hypocalcemia and vitamin D deficiency. Hence, serum levels of calcium and vitamin D should always be checked before starting treatment with anti-epileptic drugs.
basal ganglia; Down syndrome; seizure; trisomy 21.
唐氏综合征是一种由 21 号染色体额外复制引起的遗传疾病。唐氏综合征成人新发癫痫较为罕见。唐氏综合征患者颅内钙化和癫痫的确切发病机制尚不清楚，但有报道称唐氏综合征患者低钙血症和维生素 D 缺乏之间可能存在关联。一名 18 岁女孩鼻梁低、蒙古眼、指（趾）弯曲和跗骨间关节分离，唐氏综合征特征明显，甲状旁腺激素、钙和维生素 D 水平较低。由于唐氏综合征患者颅内钙化的发生率较高，因此低钙血症和维生素 D 缺乏的可能性更大。因此，在开始使用抗癫痫药物治疗之前，应始终检查血清钙和维生素 D 水平。
基底节；唐氏综合征；癫痫；21 三体。
