A case report on neurological Wilson disease in an adolescent boy
DOI:
https://doi.org/10.18203/2320-6012.ijrms20243392Keywords:
ATP7B, Wilson disease, Hepatolenticular, Kayser Fleischer, NeurologyAbstract
Wilson disease is an inherited metabolic multi-system disease that affects primarily the liver and brain. The cirrhotic liver combined with degenerative changes in lenticular nuclei of brain gives it the name of hepatolenticular degeneration. It is a rare disease involving the ATP7B gene and its protein. Here we discuss a case of a 15-year-old male who presented with predominantly neurological symptoms such as tremors, gait abnormality, dysphagia, and dysarthria which turned out to be a case of Wilson disease. Early identification is usually difficult since it has a long latent period and involves multiple systems with varied manifestations. It is a treatable with fair prognosis if diagnosed early.
Metrics
References
Mak CM, Lam CW. Diagnosis of Wilson's disease: a comprehensive review. Crit Rev Clin Lab Sci. 2008;45:263-90.
Liu G, Ma D, Cheng J, Zhang J, Luo C, Sun Y, et al. Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report. BMC Med Genet. 2018;19(1):61.
Huster D. Wilson disease. Best Pract Res Clin Gastroenterol. 2010;24:531-9.
Riordan SM, Williams R. The Wilson's disease gene and phenotypic diversity. J Hepatol. 2001;34:165-71.
Lin LJ, Wang DX, Ding NN, Lin Y, Jin Y, Zheng CQ. Comprehensive analysis on clinical features of Wilson's disease: an experience over 28 years with 133 cases. Neurol Res. 2014;36:157-63.
Dedoussis GV, Genschel J, Sialvera TE, Bochow B, Manolaki N, Manios Y, et al. Wilson disease: high prevalence in a mountainous area of Crete. Ann Hum Genet. 2005;69(Pt 3):268-74.
Noble JA. A case study: identifying a new case of Wilson's disease. J Am Acad Nurse Pract. 2005;17:512-7.
Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci. 2010;1184:173-87.
Ma J, Betts NM. Zinc and copper intakes and their major food sources for older adults in the 1994-96 continuing survey of food intakes by individuals (CSFII). J Nutr. 2000;130:2838-43.
Kipker N, Alessi K, Bojkovic M, Padda I, Parmar MS. Neurological-Type Wilson Disease: Epidemiology, Clinical Manifestations, Diagnosis, and Management. Cureus. 2023;26:15.
Tazin F, Kumar H, Orlang V. Wilson's Disease Manifestation in Late Adulthood: A Case Report and Literature Review. Cureus. 2022;30:29797.
Ferenci P. Phenotype-genotype correlations in patients with Wilson's disease. Ann N Y Acad Sci. 2014;1315:1-5.
Schilsky ML, Roberts EA, Bronstein JM, Dhawan A, Hamilton JP, Rivard AM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2023;77(4):1428-55.
Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, et al. Wilson disease. Nat Rev Dis Primers. 2018;4(1):21.
Seetharaman J, Sarma MS. Chelation therapy in liver diseases of childhood: Current status and response. World J Hepatol. 2021;27:1552-67.
Medici V, Trevisan CP, D'Incà R, Barollo M, Zancan L, Fagiuoli S, et al. Diagnosis and management of Wilson's disease: results of a single center experience. J Clin Gastroenterol. 2006;40(10):936-41.
Sturniolo GC, Mestriner C, Irato P, Albergoni V, Longo G, D'Incà R. Zinc therapy increases duodenal concentrations of metallothionein and iron in Wilson's disease patients. Am J Gastroenterol. 1999;94:334-8.
Downloads
Published
How to Cite
Issue
Section
