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

Emilio Franzoni*, Marjo S. Van der Knaap, Alessandra Errani, Maria Chiara Colonnelli, Roberta Bracceschi, Elisabetta Malaspina, Filomena Caterina Moscano, Caterina Garone, Jasenka Sarajlija, Robert A. Zimmerman, Gajja S. Salomons, Bruno Bernardi

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)1075-1080
Number of pages6
JournalJournal of Child Neurology
Issue number12
Publication statusPublished - Dec 2006

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