title: [Diagnosis and care of Wilson disease with neurological revelation].
abstract: Wilson disease is an autosomal recessive disease that produces a copper accumulation in many organs, initially in the liver, progressing to liver cirrhosis, and in the brain, with different neurologic symptoms. Diagnosis is based on clinical, biochemical, and genetic tests. Different treatments based on chelating agents may help reduce the disease's spontaneous morbidity and mortality. We describe three patients who presented Wilson disease before 18 years of age, with initial neurologic symptoms between 1998 and 2010. After comparison with literature reports, their clinical symptoms, progression, and care allowed us to propose a treatment algorithm. Neurologic symptoms are present in 35% of the patients with Wilson disease such as dystonia, extrapyramidal syndrome, dysarthria, dysphagia, and psychiatric symptoms. The time to diagnosis remains too long and may account for the increased severity of the illness encountered and problems treating these patients. The first treatment choice must be triethylenetetramine, which causes fewer side effects of initial worsening of symptoms compared to D-penicillamine. Zinc therapy is the first treatment for asymptomatic patients or those on maintenance treatment. Finally, liver transplantation is a potential treatment even if the patient presents severe neurological disability because it may improve clinical symptoms. However, further research is warranted on this matter.
authors.affiliation: Service de neurologie pédiatrique, hôpital Femme-Mère-Enfant, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France. weber.sabrina@neuf.fr
authors.forename: S
authors.initials: S
authors.lastname: Wagner
authors.forename: A-S
authors.initials: AS
authors.lastname: Brunet
authors.forename: M
authors.initials: M
authors.lastname: Bost
authors.forename: A
authors.initials: A
authors.lastname: Lachaux
authors.forename: E
authors.initials: E
authors.lastname: Broussolle
authors.forename: V
authors.initials: V
authors.lastname: Des Portes
authors.forename: L
authors.initials: L
authors.lastname: Lion-François
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002614:Chelating Agents / Q000627:therapeutic use; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D016031:Liver Transplantation; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D009460:Neurologic Examination; D010396:Penicillamine / Q000627:therapeutic use; D014266:Trientine / Q000627:therapeutic use; D015032:Zinc / Q000627:therapeutic use
chemical_list: D002614:Chelating Agents; D010396:Penicillamine; D015032:Zinc; D014266:Trientine