Varied and atypical presentation of Wilson disease in a family: report of 3 cases in siblings

Authors

  • Shilpi Ranjan Department of Community Medicine, Government Medical College, Bettiah, Bihar
  • Kumar Saurabh Department of Pediatrics, Government Medical College, Bettiah, Bihar

DOI:

https://doi.org/10.18203/2349-3291.ijcp20163702

Keywords:

Wilson disease, Penicillamine, Zinc

Abstract

Study reports a series of three cases of atypical presentation of Wilson disease from a family. First sibling presented with isolated neurological manifestation without hepatic involvement and responded well with low dose penicillamine and zinc. Second sibling had history of recurrent long bone fractures along with hepatitis who also responded well with zinc therapy. Third sibling who was presymptomatic turns up into symptomatic state even after appropriate zinc prophylaxis.  

References

Taly AB, Prshanth LK, Sinha S. Wilson’s disease: An Indian perspective. Neurology India. 2009;57:528-40.

Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089-111.

Kalra V, Khurana D, Mittal R. Wilson’s disease-early onset and lesson from pediatric cohort in India. Indian Pediatrics. 2000;37:595-601.

Walshe JM, Yealland M. Wilson’s disease: The problem of delayed diagnosis. J Neurol Neurosurg Psychiatry. 1992;55:692-6.

Taly AB, Meenakshi-Sundaram S, Sinha S, Swamy HS, Arunodaya GR. Wilson’s disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore). 2007;86:112-21.

Mishra D, Kalra V, Seth R. Failure of prophylactic zinc in Wilson disease. Indian Pediatrics. 2008;45:151-3.

Sinha S, Taly AB, Ravishankar S, Prashanth LK, Venugopal KS, Arunodaya GR, et al. Wilson’s disease: Cranil MRI observation and clinical correlation. Neuroradiology. 2006;48:613-21.

Sinha S, Taly AB, Ravishankar S, Prashanth LK, Vasudev MK. Central pontine signal changes in Wilson’s disease: Distinct MRI morphology and sequencial changes with de-coppering therapy. J Neuroimaging. 2007;17:286-91.

Brewer GJ, ASkari F, Dick RB, Sitterly J, Fink JK, Carlson M, et al. Treatment of Wilson's disease with tetrathiomolybdate: V. control of free copper by tetrathiomolybdate and a comparison with trientine. Translational Research. 2009;154:70-7.

Downloads

Published

2016-12-22