Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature.

Radiol Case Rep

Department of Radiology, Prince Sultan Military Medical City , Riyadh, Kingdom of Saudi Arabia.

Published: November 2020

Our case involved a 1-year-old female with multiple admissions for chest infections. Given her family history and high clinical suspicion, a diagnosis of Griscelli syndrome and hemophagocytic lymphohistiocytosis was made. Her work-up included a brain MRI, which revealed diffuse volume loss and corpus callosum hypogenesis associated with a diffuse simplified pattern of the sulci and gyri compatible with lissencephaly. We describe hypogenesis of the corpus callosum and lissencephaly for the first time in this syndrome.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501490PMC
http://dx.doi.org/10.1016/j.radcr.2020.09.005DOI Listing

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