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Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD)

© BMJ Publishing Group Limited 2021. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A 3yearold boy born to consanguineously married couple (third cousins) presented with features of regression of attained developmental milestones. There was normal development till age 14 months when the child seemingly lost ability to sit without and stand with support. At 3 years of age, the child needed support for sitting, was unable to hold objects and communicated only with signs. There was similar history in son and daughter of maternal uncle with daughter succumbing to her symptoms at 4 years of age. On examination, all four limbs’ muscle tone was increased with exaggerated deep tendon reflexes. Electroencephalogram was normal. Patient was referred for MRI of head. MRI of brain was performed without intravenous contrast on a 3 T machine (Signa HDxt 3.0T, GE Healthcare, Milwaukee, Wisconsin, USA). MRI showed severe symmetrical bilateral cerebellar atrophy (figure 1) with parenchymal hyperintensity,