Gowda Vykuntaraju K, Avaragollapuravarga Mathada Amit, Srinivasan Varunvenkat M, Vamyanmane Dhananjaya K
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Department of Pediatric Radiology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Adv Biomed Res. 2023 Jun 28;12:148. doi: 10.4103/abr.abr_98_22. eCollection 2023.
Biotinidase deficiency is a rare autosomal recessive neurometabolic disorder resulting in biotin deficiency. Our patient presented with seizures and developmental delay since infancy and was started on megavitamin supplements. At 14 years, she presented with motor regression with encephalopathy after discontinuation of vitamins. There were no skin and hair changes. Magnetic resonance imaging (MRI) of the brain showed bilateral symmetrical posterior putamen signal changes. Tandem mass spectroscopy showed increased methyl malonyl carnitine and 3-OH isovaleryl carnitine. There was a low biotinidase level, and a pathogenic variant in the gene in the next-generation sequencing was identified. Special importance is placed on the unusual symmetric posterior putamen involvement seen in MRI of the brain.
生物素酶缺乏症是一种罕见的常染色体隐性神经代谢紊乱疾病，可导致生物素缺乏。我们的患者自婴儿期起就出现癫痫发作和发育迟缓，并开始服用多种维生素补充剂。14岁时，她在停用维生素后出现伴有脑病的运动功能倒退。没有皮肤和毛发变化。脑部磁共振成像（MRI）显示双侧壳核后部信号对称改变。串联质谱分析显示甲基丙二酸肉碱和3-羟基异戊酰肉碱增加。生物素酶水平较低，通过下一代测序在该基因中鉴定出一个致病变异。脑部MRI中所见的不寻常的双侧对称壳核后部受累情况尤为重要。
