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

Abstract

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.

Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease

“…And in some case, a swollen cervical spinal cord with gadolinium enhancement has been observed. 10,11 In addition, a modest alteration of the cervical spinal signal has been reported in a patient with severe childhood onset Pelizaeus-Merzbacher type disease. 9 Widespread gadolinium enhancement of lumbosacral and cauda equina nerve roots could be found in Krabbe's disease and childhood-onset metachromatic leukodystrophy.…”

“…Neuroimaging plays a key role in the differential diagnosis of children with neurometabolic diseases, many of which involve the spinal cord. 9 10 Among MDs other than LS, hyperintense signal on T2-weighted images in the dorsal columns and lateral corticospinal tract of the spinal cord is a major feature of leukoencephalopathy with brainstem and spinal cord involvement and increased lactate, due to recessive variants in the DARS2 gene. 9 Some leukodystrophies may show atrophy of the spinal cord in the absence of spinal signal alterations.…”

“…And in some case, a swollen cervical spinal cord with gadolinium enhancement has been observed. 10 11…”