Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner’s syndrome

Abstract

We present a case of megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly and who initially presented with severe psychiatric symptoms. The patient presented with presented with late-onset secondary generalized focal motor seizures, gait ataxia and mild spasticity with hyperreflexia. MRI showed diffuse white matter hyperintensities and bilateral anterotemporal cysts. Genetic analysis confirmed the causal MLC1 mutation and Turner s syndrome. Surprisingly, our patient had no macrocephaly, which is a typical finding in MCL1 mutations; we emphasize that comorbid unrelated Turner s syndrome could explain the absence of macrocephaly: although short stature is typical, microcephaly is not associated with Turner s syndrome. Our observation thus argues for detailed investigations in cases presenting with an atypical clinical picture.