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