Hosseini Seyed Ahmad, Ghelichi-Ghojogh Mousa
Department of Pediatrics, Neonatal and Children's Health Research Center Research Center, Golestan University of Medical Science, Gorgan, Iran.
Assistant Professor of Epidemiology, Neonatal and Children's Health Research Center Research Center, Golestan University of Medical Science, Gorgan, Iran.
Ann Med Surg (Lond). 2023 Apr 15;85(5):2177-2179. doi: 10.1097/MS9.0000000000000684. eCollection 2023 May.
Hypomyelinating leukodystrophies are a heterogeneous group of inherited white matter disorders characterized by a predominant absence of myelin deposits in the central nervous system.
The patient was a one-year-old girl child. She at the age of 6 months was hospitalized due to loose, muscle weakness, and an upward gaze for 7-8 min with complaints of fever and convulsions.
Using the test of whole exome sequencing, a nonsense homozygous mutation was found in the PYCR2 gene, which a mutation in the PYCR2 gene causes hypomyelinating leukodystrophy type 10 disease.
Advances in the field of genetics, increased awareness, and the increasing availability of genetic testing in small cities in developing countries are helping to better assess complex neurological disorders and establish a complete diagnosis.
低髓鞘性脑白质营养不良是一组异质性遗传性白质疾病，其特征是中枢神经系统中主要缺乏髓磷脂沉积。
患者为一名1岁女童。她在6个月大时因腹泻、肌肉无力、向上凝视7 - 8分钟并伴有发热和惊厥症状而住院。
通过全外显子组测序检测，在PYCR2基因中发现了一个纯合无义突变，该基因的突变会导致10型低髓鞘性脑白质营养不良症。
遗传学领域的进展、意识的提高以及发展中国家小城市中基因检测的可及性增加，有助于更好地评估复杂的神经系统疾病并建立完整的诊断。
