Singh Sonali, Mishra Anshika, Murthy Chinmayee, Inban Pugazhendi, Abdefatah Ali Munira, Yadav Anupam S, Intsiful Tarsha A, O Omar Zainab T, Lakhra Sakshi, Khan Dr Aadil
Pediatrics, King George's Medical University, Lucknow, IND.
Internal Medicine, California Institute of Behavioral Neurosciences and Psychology, Fairfield, USA.
Cureus. 2023 Mar 21;15(3):e36471. doi: 10.7759/cureus.36471. eCollection 2023 Mar.
A subset of hereditary white matter disorders called hypomyelinating leukodystrophies (HLD) is characterized primarily by the absence of myelin deposition. Although the clinical presentation can be mild and the development of symptoms can occur in adolescence or adulthood, the majority of severe cases present during infancy and early childhood with significant neurological impairments. The clinical features vary from muscle stiffness to seizures and developmental delay. The detailed myelination process can be seen with magnetic resonance imaging (MRI), and many patients are diagnosed using MRI pattern recognition and next-generation sequencing (NGS) in most cases. Here, we report a case of an infant suffering from the hypomyelinating leukodystrophy-13 (HLD-13) variant, whose next-generation sequencing revealed a pathogenic homozygous variant.
一类称为低髓鞘性脑白质营养不良（HLD）的遗传性白质疾病，其主要特征是缺乏髓鞘沉积。尽管临床表现可能较轻，症状可能在青春期或成年期出现，但大多数严重病例在婴儿期和幼儿期就会出现，伴有严重的神经功能障碍。临床特征从肌肉僵硬到癫痫发作和发育迟缓不等。通过磁共振成像（MRI）可以看到详细的髓鞘形成过程，在大多数情况下，许多患者通过MRI模式识别和下一代测序（NGS）进行诊断。在此，我们报告一例患有低髓鞘性脑白质营养不良13型（HLD - 13）变异型的婴儿病例，其下一代测序显示为致病性纯合变异。
