Neurological presentation of Wilson's disease in childhood: Disabling pathology

  • Cherqaoui D
  • El Anbari Y
  • Abdelfettah Y
  • et al.
N/ACitations
Citations of this article
7Readers
Mendeley users who have this article in their library.

Abstract

Introduction.- Wilson's disease, autosomal recessive genetic disease, causes tissue accumulation of copper in the liver initially progressing to cirrhosis and in the central nervous system responsible for neurological complications. The diagnosis is both clinical and molecular biological. Objective.- We report a case of Wilson's disease with which we'll discuss the management of neuro-orthopedic complications of this disease. Observation.- M.Y. child aged 10 to consult with walking problems and slow gestures with speech. Born to consanguineous parents with a good psychomotor development. He had generalized dystonia, dysarthria and impaired deglutition. une Wilson's disease was suspected, confirmed on liver biopsy; normality of ophthalmological examination, ceruloplasmin equals to 0.073 g/l and normal cuprurie delayed the diagnosis. Discussion.- The revelation neurological forms of Wilson's disease represent approximately 35% of cases. We must therefore think of Wilson's disease before any neurological or psychiatric signs in children or adolescents and achieve a balance. The heterogeneity of clinical signs often causes misdiagnosis and explains the mean time to diagnosis of 6 to 36 months, which influences the prognosis pejoratively. Various chelators are available to reduce the morbidity and mortality of Kawasaki disease. Rehabilitation is an important part of the care that must be started early before the installation of neuro-orthopedic complications, hence the importance of a multidisciplinary management of these patients.

Cite

CITATION STYLE

APA

Cherqaoui, D., El Anbari, Y., Abdelfettah, Y., El Midmani, F., & El Fatimi, A. (2012). Neurological presentation of Wilson’s disease in childhood: Disabling pathology. Annals of Physical and Rehabilitation Medicine, 55, e245. https://doi.org/10.1016/j.rehab.2012.07.624

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free