DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20194762

Severe generalized dystonia in paediatric onset wilsons disease

Jyothi A., Subramanya N. K.

Abstract


Wilson disease (WD) is a rare autosomal recessive disorder with defect in copper transport mechanism with varied clinical manifestation predominantly hepatic, neurological, ophthalmological and multi-systemic involvement. WD in paediatrics  age group manifest differently from the adults.  In this case report, Authors have  described the first case report presenting with neurological involvement in the form of severe generalized dystonia in a paediatric onset WD. This case report is of greater significance in detecting the most often undetected paediatric WD presenting with a usual hepatic manifestation occurring early in the course.


Keywords


Atypical, Dystonia, Kayser-Fleischer ring, Paediatric, Wilsons disease

Full Text:

PDF

References


Taly AB, Prshanth LK, Sinha S. Wilson’s disease: An Indian perspective. Neurology India. 2009;57(5):528-40.

Socha P, Janczyk W, Dhawan A, Baumann U, D’Antiga L, Tanner S, et al. Wilson’s disease in children: a position paper by the ESPGHAN Hepatology Committee. J Pediatr Gastroenterol Nutr. 2018;66(2):334-44.

Svetel M, Kozic D, Stefanova E, Semnic R, Dragasevic N, Kostic VS. Dystonia in Wilson’s disease. Mov Disord. 2001;16(4):719-23.

Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47(6):2089-111.

Kalra V, Khurana D, Mittal R. Wilson’s diseaseearly onset and lesson from pediatric cohort in India. Indian Pediatr. 2000;37(6):595-601.

Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. Lancet Neurol. 2015;14(1):103-13.

Sinha S, Taly AB, Ravishankar S, Prashanth LK, Venugopal KS, Arunodaya GR, et al. Wilson’s disease: cranial MRI observations and clinical correlation. Neuroradiol. 2006,48(9):613-21.

K. Dziezyc, T. Litwin, G. Chabik, A. Czlonkowska. Frequency and types of dystonia in Wilson’s disease patients. Mov Disord. 2016; 31 (suppl 2). Available at: https://www.mdsabstracts.org/abstract/frequency-and-types-of-dystonia-in-wilsons-disease-patients/. Accessed 14 April 2019.