Spinal Cord Involvement in Pediatric-Onset Metabolic Disorders With Mendelian and Mitochondrial Inheritance

Frontiers in Pediatrics

Nader Alkhuraish¹  Kalthoum Tlili-Graies¹  Brahim Tabarki²  Wejdan Hakami²  Majid Alfadhel³ 

[1] Division of Neuroradiology, Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia;Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia;Genetics and Precision Medicine Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, King Abdullah Specialist Children's Hospital, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia;Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia;

关键词: spinal cord;    Mendelian disease;    mitochondrial disease;    MRI;    children;   

DOI  :  10.3389/fped.2020.599861

来源: DOAJ

【 摘 要 】

Previous reviews have described the features of brain involvement in pediatric-onset metabolic disorders with Mendelian and mitochondrial inheritance, but only a few have focused on spinal cord abnormalities. An increasing number of metabolic disorders with Mendelian and mitochondrial inheritance in children with predominant spinal cord involvement has been recognized. Spinal cord involvement may be isolated or may occur more frequently with brain involvement. Timely diagnosis and occasional genetic counseling are needed for timely therapy. Therefore, clinicians must be aware of the clinical, laboratory, and radiographic features of these disorders. In this review, we describe pediatric-onset metabolic disorders with Mendelian and mitochondrial inheritance and predominant spinal cord involvement. Furthermore, we provide an overview of these conditions, including background information and examples that require rapid identification, focusing on treatable conditions; that would be catastrophic if they are not recognized.

【 授权许可】

Unknown