Abstract
Wilson’s disease (WD) or hepatolenticular degeneration is an inherited autosomal recessive disease characterized by a defect in the biliary copper excretion, leading to copper accumulation in many organs. The absence of family history and relative lack of previous hepatic involvement may lead to the delay in diagnosis. Atypical presentation of Amenorrhea has been reported in untreated women with Wilson’s disease (WD). Clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. We present an adolescent patient with Secondary Amenorrhea, hemolyticanemia and psychiatric manifestations as the initial presentation.
Keywords: Secondary amenorrhea, psychiatric manifestations, haemolytic anemia, kayser fleischer ring, Wilson disease.
References
- Sokol RJ, Narkewicz MR. Copper and iron storage disorders. In: Suchy FJ, Sokol RJ, Balistreri WF (eds). Liver Disease in Children, 2nd Editon. Philadelphia: Lippincott Williams & Wilkins, 2001:595–640.
- Scheinberg IH, Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease). Science 1952;116:484-5.
- Huster D. Wilson disease. Best Pract Res ClinGastroenterol. 2010;24(5):531–9.
- Terada K, Schilsky ML, Miura N, Sugiyama T (Oct 1998). "ATP7B (WND) protein". The International Journal of Biochemistry & Cell Biology. 30 (10): 1063–7.
- Stremmel W, Meyerrose KW, Niederau C, Hefter H, Kreuzpaintner G, Strohmeyer G. Wilson's disease: Clinical presentation, treatment, and survival. Ann Intern Med 1991;115:720-6.
- Wiebers D.O. , Hollenhorst R.W. and Goldstein N.P. , The ophthalmologic manifestations of Wilson’s disease, Mayo ClinProc 52(7) (1977), 409–416.
- Cumings JN. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. Brain 1948; 71: 410-5.
- Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5(4): 344-50.
- Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. BiochemBiophys Res Commun 1993; 197(1): 271-7.
- Kaushansky A, Frydman M, Kaufman H, Homburg R. Endocrine studies of the ovulatory disturbances in Wilson's disease (hepatolenticular degeneration). FertilSteril 1987;7:270-3.
- Akil M, Brewer GJ: Psychiatric and behavioral abnormalities in Wilson’s disease. AdvNeurol 1995; 65:171–178
- Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith LH Jr, editor. Major Problems in Internal Medicine. Vol. 23. Philadelphia: WB Saunders; 1984.
- Wilson's disease, Brůha R1, Marecek Z, Martásek P, Nevsímalová S, Petrtýl J, Urbánek P, Kalistová H, Pospísilová , CasLekCesk. 2009;148(11):544-8.
- Lauterbach EC. Psychiatric management in Wilson’s disease (progressive hepatolenticular degeneration). In: Lauterbach EC, Psychiatric Management in Neurological Diseases. American Psychiatric Press: Washington, DC; 2000. p. 93-137.
- Wilson SAK. Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain 1912; 34: 295-507.
- Cumings JN. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. Brain 1948; 71: 410-5.
- Kaushansky A, Frydman M, Kaufman H, Homburg R. Endocrine studies of the ovulatory disturbances in Wilson’s disease. FertilSteril 1987;47:270–3.
- Owen CA, Goldstein NP, Bowie JW. Platelet function and coagulation in patients with Wilson disease. Arch Intern Med 1976;136:148–52.
- Chu NS, Hung TP. Geographic variations in Wilson’s disease. J NeurolSci 1993;117:1–7.
- Hartemann P, Leclere J, Thomas JL, Genton P. Gonadotropin resistant ovary syndrome and Wilson’s disease. A case. Rev Med I˙nterne 1983;4:353–5.
Corresponding Author
Dr Annanya Mukherjee
Department of General Medicine, Dr. DY Patil Medical College, Navi Mumbai, India
DOI: https://dx.doi.org/10.18535/jmscr/v6i9.68
