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.
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health