Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.
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.
Franzoni
Emilio
E
Child Neuropsychiatry Unit, Department of Pediatrics, University of Bologna, Bologna, Italy. emilio.franzoni@unibo.it
Van der Knaap
Marjo S
MS
Errani
Alessandra
A
Colonnelli
Maria Chiara
MC
Bracceschi
Roberta
R
Malaspina
Elisabetta
E
Moscano
Filomena Caterina
FC
Garone
Caterina
C
Sarajlija
Jasenka
J
Zimmerman
Robert A
RA
Salomons
Gajja S
GS
Bernardi
Bruno
B
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
D005904:Glial Fibrillary Acidic Protein