Wang Hongmei, Li Jiahong, Zhou Ji, Dai Lifang, Ding Changhong, Li Mo, Feng Weixing, Fang Fang, Ren Xiaotun, Wang Xiaohui
Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Department of Gastroenterology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Front Neurol. 2022 Sep 1;13:919583. doi: 10.3389/fneur.2022.919583. eCollection 2022.
Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder with heterogeneous phenotype, including hypotonia, movement disorders, autonomic dysfunction, and developmental delay. Here, we reported a Chinese patient with AADCD who was initially misdiagnosed with epilepsy.
The proband was a 4-month-old Chinese girl, representing hypotonia, episodes of oculogyric crises with dystonia, and delayed developmental milestones. The patient was first misdiagnosed with epilepsy because of the similarity between episodes of oculogyric crisis and epileptic seizure. The accurate diagnosis of AADCD was established through analysis of neurotransmitters in cerebrospinal fluid (CSF). The genetic test confirmed the patient carried novel compound heterozygous mutations in the gene:c.419G>A and c.1375C>T.
This study reported a patient with AADCD who was initially misdiagnosed as epilepsy. Two novel missense mutations in the gene were identified from the patient and her family. Little infants with epileptic-like attacks should consider AADCD. An accurate diagnosis of AADCD is essential for drug choice and patient management.
芳香族氨基酸脱羧酶（AADC）缺乏症是一种罕见的常染色体隐性神经代谢紊乱疾病，具有异质性表型，包括肌张力减退、运动障碍、自主神经功能障碍和发育迟缓。在此，我们报告了一名最初被误诊为癫痫的中国AADCD患者。
先证者是一名4个月大的中国女孩，表现为肌张力减退、伴有肌张力障碍的动眼危象发作以及发育里程碑延迟。由于动眼危象发作与癫痫发作相似，该患者最初被误诊为癫痫。通过对脑脊液（CSF）中的神经递质进行分析，确立了AADCD的准确诊断。基因检测证实该患者在该基因中携带新的复合杂合突变：c.419G>A和c.1375C>T。
本研究报告了一名最初被误诊为癫痫的AADCD患者。从该患者及其家族中鉴定出该基因的两个新的错义突变。有癫痫样发作的小婴儿应考虑AADCD。AADCD的准确诊断对于药物选择和患者管理至关重要。
