A 10 month old boy with macrocephaly

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A 10 month old boy with macrocephaly Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology

VIGNETTE Boy presented at 10 months of age with progressive macrocephaly. Over subsequent years, initial motor delays resolved and cognitive and behavior difficulties were relatively mild. MRI was performed for macrocephaly at presentation and repeated at 6 years of age. Otallah, et al. © 2013 American Academy of Neurology

Imaging A: T2 Diffuse confluent cerebral hemispheric white matter T2 hyperintensity with associated white matter swelling is consistent with white matter edema B: FLAIR -Bilateral anterior temporal subcortical cystic changes. C: T1 - Profound cerebral white matter hypointensity including the subcortical U-fibers D,E,F: T2, FLAIR, T1- Nearly complete resolution of previously severe white matter abnormalities. Otallah, et al. © 2013 American Academy of Neurology

Resolution of MRI abnormalities in megalencephalic leukoencephalopathy with subcortical cysts MRI findings and clinical presentation were consistent with MLC (Images A,B,C). On repeat MRI at age 6 years (D,E,F) only small areas of frontal and temporal white matter signal alteration remained, consistent with remitting MLC (MLC2b). MLC2b is associated with heterozygous mutations in HEPACAM with autosomal dominant inheritance. Often, one parent has macrocephaly but may be otherwise unrecognized. Unlike the more common phenotype seen in MLC1 mutations, MLC2b patients demonstrate remarkable MRI improvement and have a better clinical prognosis. 1) Van der Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homeostasis. Lancet Neurol 2012; 11: 973-985 2) Van der Knaap, Lai V, Kohler W. Megalencephalic leukoencephalopathy with cysts without MLC1 defect two phenotypes. Ann Neurol 2010; 67: 834–837 Otallah, et al. © 2013 American Academy of Neurology