Imataka G, Noguchi M, Tsukada K, Takahashi T, Yamanouchi H, Arisaka O
Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi, Japan.
Genet Couns. 2013;24(1):81-3.
Ring chromosome 14 (r14) is clinically characterized by early-onset epilepsy, mental retardation, delayed speech, microcephaly, extremely mild facial dysmorphisms and ophthalmologic abnormalities. We report a case presenting with partial seizures and delayed development in infancy in which r14 was diagnosed based on chromosomal analysis. The patient was a girl with a normal family and delivery history. Afebrile generalized convulsions developed at age 9 months, and phenobarbital was started, but was changed to zonisamide due to impaired liver function. Chromosome analysis led to a diagnosis of 46, XX, r(14) (p11.2q32.3). At age 5 years, while under treatment with zonisamide and clobazam, epilepsy was characterized by multiple daily episodes of complex partial seizures. Although there are no consistent brain MRI or electroencephalogram findings, experienced pediatric neurologists can make a diagnosis based on facial dysmorphisms. When refractory epilepsy is encountered in infancy with developmental delay of unknown cause, chromosome analysis should be performed.
14号环状染色体（r14）的临床特征为早发性癫痫、智力低下、语言发育迟缓、小头畸形、极其轻微的面部畸形和眼科异常。我们报告一例婴儿期出现部分性发作和发育迟缓的病例，该病例经染色体分析确诊为r14。患者为一名女孩，家族史和分娩史正常。9个月大时出现无热全身性惊厥，开始使用苯巴比妥治疗，但由于肝功能受损改为唑尼沙胺治疗。染色体分析诊断为46, XX, r(14) (p11.2q32.3)。5岁时，在使用唑尼沙胺和氯巴占治疗期间，癫痫表现为每日多次复杂部分性发作。虽然脑磁共振成像（MRI）或脑电图没有一致的表现，但经验丰富的儿科神经科医生可根据面部畸形做出诊断。当婴儿期遇到原因不明的发育迟缓且伴有难治性癫痫时，应进行染色体分析。
