Amiel J, de Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A
Département de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France.
Am J Med Genet. 1999 Sep 10;86(2):124-9.
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to D-2-hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin.
D-2-羟基戊二酸尿症是一种罕见的常染色体隐性有机酸尿症，临床表现多样。其生化缺陷尚不清楚，提示存在遗传异质性。在此，我们报告两例表现为癫痫性脑病的非相关D-2-羟基戊二酸尿症患者的面部异常情况。在一项综述中，我们发现有三名患者曾被提及存在轻微面部异常。我们的患者以及已报道病例均存在面部扁平、鼻梁宽阔和外耳异常的情况。我们建议将D-2-羟基戊二酸尿症视为不明原因癫痫性脑病中轻微面部异常的一个病因。
