Kamate Mahesh, Prashanth Gowda Parameshwar, Hattiholi Virupaxi
Child Development Clinic, KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India,
Indian J Pediatr. 2014 Mar;81(3):296-8. doi: 10.1007/s12098-013-1194-5. Epub 2013 Sep 15.
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare type of organic acidemia that has characteristic neurological manifestations including macrocephaly, developmental delay, epilepsy and cerebellar ataxia. Worldwide, few hundred cases of L-2-HGA are reported till date. The authors report the first three cases of L-2-HGA from two Indian families. Pertinent clinical aspects of this rare neurometabolic disorder namely, lack of acute exacerbations, and predisposition to brain tumors, are highlighted. In the present series, all cases had infantile onset of symptoms in the form of global developmental delay, seizures and cerebellar ataxia without extra-pyramidal signs or macrocephaly. One child presented as acute febrile encephalopathy which has not been described as a presenting feature.
L-2-羟基戊二酸尿症（L-2-HGA）是一种罕见的有机酸血症，具有特征性的神经学表现，包括巨头畸形、发育迟缓、癫痫和小脑共济失调。在全球范围内，迄今为止报道的L-2-HGA病例仅有数百例。作者报告了来自两个印度家庭的首例三例L-2-HGA病例。文中强调了这种罕见的神经代谢障碍的相关临床特征，即无急性加重情况，且易患脑肿瘤。在本系列病例中，所有病例均在婴儿期发病，表现为全面发育迟缓、癫痫和小脑共济失调，无锥体外系体征或巨头畸形。一名儿童表现为急性发热性脑病，这一症状此前未被描述为首发特征。
