title: Case report: concordant traumatic brainstem contusion delayed diagnosis in a young man with Wilson's disease.
abstract: Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism. The corresponding gene locus has been localized on the long arm of chromosome 13. Three different clinical variants of the disease can be distinguished: hepato-cerebral, abdominal/hepatic, and central nervous type. The heterogeneity of symptoms can cause problems in differential diagnosis, especially when another concordant disorder can also explain the pathogenesis of symptoms. The case report of a young man who suffered from brainstem contusion demonstrates the possibilities of misinterpretation because presenting symptoms could be attributed either to traumatic brain injury followed by adjustment disorder or Wilson's disease. Clinical signs included leftsided hemiparesis, bilateral gaze direction nystagmus, marked dysarthria with consecutive pervasive mutism, choreo-athetoid movements, spasmodic torticollis and diplopia dependent on gaze direction. Slit lamp examination showed Kayser-Fleischer's corneal ring. EEG- and computer assisted tomography investigations revealed non-specific findings. The patient was treated with D-Penicillamine. Alternative treatment with oral zinc preparations is discussed.
authors.affiliation: Department of Child- and Adolescent Psychiatry, Central Institute of Mental Health, Mannheim, FRG.
authors.forename: A
authors.initials: A
authors.lastname: Marcus
authors.forename: C
authors.initials: C
authors.lastname: Ammermann
authors.forename: M
authors.initials: M
authors.lastname: Klein
authors.forename: M H
authors.initials: MH
authors.lastname: Schmidt
mesh_terms: D000293:Adolescent; D001924:Brain Concussion / Q000150:complications* / Q000175:diagnosis / Q000534:rehabilitation; D001933:Brain Stem / Q000293:injuries*; D003131:Combined Modality Therapy; D003937:Diagnosis, Differential; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D010343:Patient Admission; D010396:Penicillamine / Q000008:administration & dosage
chemical_list: D010396:Penicillamine