Department of Pediatric Intensive Care Unit, The First Hospital of Jilin University, Xin Min Street, 130021, Changchun, China.
Department of Radiology, The First Hospital of Jilin University, Changchun, China.
BMC Pediatr. 2021 Sep 13;21(1):398. doi: 10.1186/s12887-021-02874-y.
Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations.
A 3-month-old female infant was admitted to the hospital for developmental retardation. Her prenatal and birth history was unremarkable. After admission, she developed dyspnea and severe anemia and was subsequently transferred to the intensive care unit. Magnetic resonance imaging of her brain showed a Dandy-Walker malformation, and metabolic screening indicated methylmalonic acidemia. Thus, she was diagnosed with methylmalonic acidemia and Dandy-Walker malformation. The patient underwent treatment including acidosis correction, blood transfusion, antibiotics, mechanical ventilation and heat preservation. Unfortunately, her condition progressively worsened and she died of metabolic crisis.
Dandy-Walker malformation may be a clinical manifestation of methylmalonic acidemia. Additionally, the co-existence of methylmalonic acidemia and Dandy-Walker malformation may be an uncharacterized syndrome which needs to be studied further.
甲基丙二酸血症是一种有机酸代谢紊乱疾病，通常具有非特异性的临床表现。
一名 3 个月大的女性婴儿因发育迟缓而入院。她的产前和出生史无异常。入院后，她出现呼吸困难和严重贫血，随后被转至重症监护病房。脑部磁共振成像显示 Dandy-Walker 畸形，代谢筛查提示甲基丙二酸血症。因此，她被诊断为甲基丙二酸血症和 Dandy-Walker 畸形。该患者接受了酸中毒纠正、输血、抗生素、机械通气和保温等治疗。不幸的是，她的病情逐渐恶化，死于代谢危象。
Dandy-Walker 畸形可能是甲基丙二酸血症的一种临床表现。此外，甲基丙二酸血症和 Dandy-Walker 畸形共存可能是一种尚未明确的综合征，需要进一步研究。
