title: Ataxia, ophthalmoplegia, and impairment of consciousness in a 19-month-old American boy.
abstract: A 19-month-old, white, Pennsylvanian boy, with an unremarkable medical history, presented to our hospital with a 3-week history of nonbloody, nonbilious emesis up to 5 times a day and nonbloody diarrhea. Ten days before admission, his gait became progressively unsteady, until he finally refused to walk. A day before admission, he found it difficult to move his eyes. The patient was hypoactive. History, physical and neurologic examination, blood and cerebrospinal (CSF) fluid studies, and neuroimaging studies ruled out the most frequent causes of acute ataxia. The etiology of bilateral, complete ophthalmoplegia was also taken into consideration. Magnetic resonance imaging (MRI) findings of bilateral thalami and mammillary bodies provided diagnostic clues. Additional history and specific tests established the final diagnosis and treatment plan. The patient improved to a normal neurologic state. This case provides important practical information about an unusual malnutrition cause of acute ataxia, particularly in young children of developing countries.
authors.affiliation: Department of Neurology, Hahnemann University Hospital, Philadelphia, PA.
authors.forename: Gediminas
authors.initials: G
authors.lastname: Gliebus
authors.affiliation: Department of Radiology, St. Christopher׳s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA.
authors.forename: Eric N
authors.initials: EN
authors.lastname: Faerber
authors.affiliation: Department of Pediatrics, Section of Neurology, St. Christopher׳s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Valencia
authors.affiliation: Department of Pediatrics, Section of Neurology, St. Christopher׳s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA.
authors.forename: Divya S
authors.initials: DS
authors.lastname: Khurana
authors.affiliation: Department of Emergency Medicine, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA.
authors.forename: Sabina B
authors.initials: SB
authors.lastname: Singh
authors.affiliation: Department of Pediatrics, Section of Neurology, St. Christopher׳s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA. Electronic address: alegido@drexelmed.edu.
authors.forename: Agustín
authors.initials: A
authors.lastname: Legido
mesh_terms: D001259:Ataxia / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*; D003244:Consciousness Disorders / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*; D013831:Thiamine / Q000008:administration & dosage; D013832:Thiamine Deficiency / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy; D014481:United States
chemical_list: D013831:Thiamine