Wu Lian-Hong, Jiang Yan, Hu Yue
Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2021 Apr;23(4):416-419. doi: 10.7499/j.issn.1008-8830.2101055.
A boy attended the hospital at the age of 1 month due to left hand tremor for 1 week. A blood test showed a reduction in serum uric acid and a cranial MRI showed encephalomalacia, atrophy, and cystic changes. The boy had microcephalus, unusual facial features (long face, long forehead, protruded forehead, long philtrum, low nasal bridge, facial swelling, and thick lower lip), hypertonia of lower extremities, and severe global developmental delay. Whole-exome sequencing performed for the boy detected a homozygous mutation, c.217C > T(p.R73W), in the gene, which came from his parents and was determined as "possibly pathogenic". The boy was diagnosed with molybdenum cofactor deficiency type A based on clinical manifestations and gene test results. This disease is reported for the first time in China.
一名1个月大的男孩因左手震颤1周而入院。血液检查显示血清尿酸降低，头颅磁共振成像显示脑软化、萎缩和囊性改变。该男孩患有小头畸形、特殊面容（长脸、前额长、额头突出、人中长、鼻梁低、面部肿胀、下唇厚）、下肢张力亢进和严重的全面发育迟缓。对该男孩进行的全外显子组测序检测到该基因存在纯合突变c.217C>T（p.R73W），该突变来自其父母，被判定为“可能致病”。根据临床表现和基因检测结果，该男孩被诊断为A型钼辅因子缺乏症。该病在中国首次报道。
