AUTHOR=Tabarki Brahim , Hakami Wejdan , Alkhuraish Nader , Tlili-Graies Kalthoum , Alfadhel Majid 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 8 - 2020

YEAR=2021

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2020.599861

DOI=10.3389/fped.2020.599861

ISSN=2296-2360

ABSTRACT=Previous reviews have described the features of brain involvement in pediatric-onset metabolic disorders with Mendelian and mitochondrial inheritance, but only a few reviews 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, more frequently, occur combined 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 with predominant spinal cord involvement. We overview these conditions to obtain the background and examples of conditions that require rapid identification, focusing on treatable conditions; that are catastrophic if unrecognized.