Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.

Abstract

Alexander disease is a rare, sporadic leukoencephalopathy characterized by white-matter abnormalities with frontal predominance 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 T(2)-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 dysfunction in patients presenting with atypical anorexia nervosa.

• Authors: 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
• Journal: Journal of child neurology (J Child Neurol) Vol. 21 Issue 12 Pg. 1075-80 (Dec 2006) ISSN: 0883-0738 [Print] United States
• PMID: 17156703 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glial Fibrillary Acidic Protein

Topics

• Adolescent
• Age of Onset
• Alexander Disease (diagnosis, genetics, physiopathology)
• Anorexia (genetics, physiopathology)
• Apnea (genetics, physiopathology)
• Brain (metabolism, pathology, physiopathology)
• Brain Stem (metabolism, pathology, physiopathology)
• Child
• DNA Mutational Analysis
• Deglutition Disorders (genetics, physiopathology)
• Disease Progression
• Genetic Predisposition to Disease (genetics)
• Glial Fibrillary Acidic Protein (genetics)
• Humans
• Magnetic Resonance Imaging
• Male
• Mutation (genetics)
• Mutation, Missense (genetics)
• Myelinolysis, Central Pontine (genetics, pathology, physiopathology)
• Nerve Fibers, Myelinated (metabolism, pathology)
• Predictive Value of Tests
• Wallerian Degeneration (genetics, pathology, physiopathology)
• Weight Loss (genetics)