TY - JOUR T1 - MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. DO - 10.3174/ajnr.A6746 AU - K.W. Martin AU - N. Weaver AU - K. Alhasan AU - E. Gumus AU - B.R. Sullivan AU - M. Zenker AU - F. Hildebrandt AU - J.D. Saba Y1 - 2020/08/27 UR - http://www.ajnr.org/content/early/2020/08/27/ajnr.A6746.abstract N2 - SUMMARY: SGPL1 encodes sphingosine-1-phosphate lyase, the final enzyme of sphingolipid metabolism. In 2017, a condition featuring steroid-resistant nephrotic syndrome and/or adrenal insufficiency associated with pathogenic SGPL1 variants was reported. In addition to the main features of the disease, patients often exhibit a range of neurologic deficits. In a handful of cases, brain imaging results were described. However, high-quality imaging results and a systematic analysis of brain MR imaging findings associated with the condition are lacking. In this study, MR images from 4 new patients and additional published case reports were reviewed by a pediatric neuroradiologist. Analysis reveals recurring patterns of features in affected patients, including isolated callosal dysgenesis and prominent involvement of the globus pallidus, thalamus, and dentate nucleus, with progressive atrophy and worsening of brain lesions. MR imaging findings of abnormal deep gray nuclei, microcephaly, or callosal dysgenesis in an infant or young child exhibiting other typical clinical features of sphingosine-1-phosphate lyase insufficiency syndrome should trigger prompt genetic testing for SGPL1 mutations.PKANpantothenate kinase-associated neurodegenerationS1Psphingosine-1-phosphateSPLISsphingosine-1-phosphate lyase insufficiency syndrome ER -