可能的脑白质消失症：病例报告及文献复习。

Probable Vanishing White Matter Disease: A Case Report and Literature Review.

机构信息

Department of pediatrics and child Health, School of Medicine, College of Health Sciences, Dire Dawa University,, Dire Dawa, Ethiopia.

Department of pediatrics and child Health, School of Medicine, College of Health Sciences, Haramaya University, Harar, Ethiopia.

出版信息

Ethiop J Health Sci. 2021 Nov;31(6):1307-1310. doi: 10.4314/ejhs.v31i6.28.

DOI:10.4314/ejhs.v31i6.28

PMID:35392331

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8968366/

Abstract

BACKGROUND

Vanishing white matter disease is one of the most prevalent inherited childhood leukoencephalopathies. The disease is characterized by chronic, progressive and episodic deterioration with ataxia and spasticity.

CASE PRESENTATION

Here, we report a 15-month-old female child from Dire-Dawa, eastern part of Ethiopia, who presented with regression of developmental milestones and truncal ataxia since her age of 11 months following a febrile illness that occurred one month earlier. Magnetic resonance imaging of brain is suggestive of vanishing white matter disease.

CONCLUSIONS

We believe this case report will increase curiosity, awareness and knowledge of health professionals in Ethiopia and sub-Saharan Africa working with children in early consideration and the diagnosis of the disease.

摘要