title: 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.affiliation: Child Neuropsychiatry Unit, Department of Pediatrics, University of Bologna, Bologna, Italy. emilio.franzoni@unibo.it
authors.forename: Emilio
authors.initials: E
authors.lastname: Franzoni
authors.forename: Marjo S
authors.initials: MS
authors.lastname: Van der Knaap
authors.forename: Alessandra
authors.initials: A
authors.lastname: Errani
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Colonnelli
authors.forename: Roberta
authors.initials: R
authors.lastname: Bracceschi
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Malaspina
authors.forename: Filomena Caterina
authors.initials: FC
authors.lastname: Moscano
authors.forename: Caterina
authors.initials: C
authors.lastname: Garone
authors.forename: Jasenka
authors.initials: J
authors.lastname: Sarajlija
authors.forename: Robert A
authors.initials: RA
authors.lastname: Zimmerman
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Bruno
authors.initials: B
authors.lastname: Bernardi
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D038261:Alexander Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D000855:Anorexia / Q000235:genetics / Q000503:physiopathology; D001049:Apnea / Q000235:genetics / Q000503:physiopathology; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology*; D001933:Brain Stem / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D003680:Deglutition Disorders / Q000235:genetics / Q000503:physiopathology; D018450:Disease Progression; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D017590:Myelinolysis, Central Pontine / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology; D011237:Predictive Value of Tests; D014855:Wallerian Degeneration / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D015431:Weight Loss / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein