MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome [PEDIATRICS]

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.

Source: American Journal of Neuroradiology - October 5, 2020 Category: Radiology Authors: Martin, K. W., Weaver, N., Alhasan, K., Gumus, E., Sullivan, B. R., Zenker, M., Hildebrandt, F., Saba, J. D. Tags: PEDIATRICS Source Type: research