Unusual diagnosis in a child suffering from Juvenile Alexander disease: Clinical and imaging report

Alexander disease is a rare, sporadic leukoencephalopathy characterized by white-matter abnormalities with frontal pre-dominance and, as a rule, clinically associated with megalencephaly, seizures, spasticity, and psychomotor deterioration. We describe a boy who was diagnosed as affected by anorexia nervosa because of his refusal to eat, progressive weight loss, and psychologic disturbances. The observation of a hyperintense lesion on T₂-weighed magnetic resonance images (MRIs) was initially explained as a pontine and extrapontine myelinolysis related to malnutrition. Following MRI and DNA analysis, we diagnosed a juvenile type of Alexander disease. Therefore, we can affirm the importance of the history and clinical examination to look for brainstem dysfuction in patients presenting with atypical anorexia nervosa.