Journal List > Korean J Pediatr Gastroenterol Nutr > v.14(1) > 1043534

Korean J Pediatr Gastroenterol Nutr. 2011 Mar;14(1):86-90. Korean.
Published online March 31, 2011.  https://doi.org/10.5223/kjpgn.2011.14.1.86
Copyright © 2011 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
Hypocalcemic Tetany in a 13-Year-Old Girl with Wilson's Disease
Chaeik Ra, M.D., Sang Yong Kim, M.D. and Hong Koh, M.D.
Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

Corresponding author (Email: KHONG@yuhs.ac )
Received October 11, 2010; Revised October 15, 2010; Accepted October 26, 2010.

Abstract

Wilson's disease is an autosomal recessive disorder marked by disruptions in copper metabolism which leads to accumulation of copper in the liver, brain, cornea, and other tissues. Manifestations of this disease are more likely to be hepatic during early childhood and neurologic in adolescent. In addition, abnormalities that develop during disease progression may result in other manifestations such as hematologic, endocrine, or renal findings. Here we report a 13-year-old girl who presented with hypocalcemic tetany shortly after being diagnosed with Wilson's disease. Despite aggressive calcium, magnesium, and vitamin D replacement therapy, the hypocalcemia and hypomagnesemia did not promptly respond. Mineral levels in the blood took longer than 3 weeks to normalize. We speculate that a parathyroid insufficiency and disrupted vitamin D metabolism caused by copper accumulation and hepatic dysfunction resulted in hypocalcemic tetany.

Keywords: Wilson's disease; Hypoparathyroidism; Hypocalcemic tetany; Vitamin D deficiency

Figures


Fig. 1
T2-weighted axial image of brain MRI demonstrated bilateral hyperintensity with central low signal intensity in the putamen and globus pallidi (white arrows). Irregular hyperintensity in both thalami (black arrow heads) was also noted.
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Fig. 2
The identification of missense mutations in the ATP7B gene. A direct sequence analysis of exon 8~18 in the ATP7B gene revealed uncommon heterozygous missense mutations. (A) A mutation caused by a C to T substitution at nucleotide 2621 resulted in an amino acid substitution at 874 (Ala874Val). (B) A mutation caused by a G to T substitution at nucleotide 3104 resulted in an amino acid substitution at nucleotide 1035 (Gly1035Val).
Click for larger image

References
1. Seo JK. Molecular genetic testing and diagnosis of Wilson disease. Korean J Pediatr Gastroenterol Nutr 2008;11:72–82.
2. Gitlin N. Wilson's disease: the scourge of copper. J Hepatol 1998;28:734–739.
3. Seo JK. Wilson disease: an update. Korean J Hepatol 2006;12:333–363.
4. Moon JS, Ko JS, Seo JK. Long-term clinical follow-up of Korean children with Wilson disease; twenty years' experience. J Korean Pediatr Soc 2001;44:127–138.
5. Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K. Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. Hum Mutat 1998 Suppl 1:S320–S322.
6. Nanji MS, Nguyen VT, Kawasoe JH, Inui K, Endo F, Nakajima T, et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 1997;60:1423–1429.
7. Tanner S. Wilson's disease. In: Kleinman RE, Walker WA, editors. Walker's pediatric gastrointestinal disease; physiology, diagnosis, management. 5th ed. Hamilton, Ont.; Lewiston, NY: BC Decker; 2008. pp. 1035-1048.
8. Seo JK, Kim YS, Hahn CJ, Baik SK. A nationwide survey for prevalence and clinical characteristics of Wilson disease in Korea. Korean J Hepatol 2004;10 Suppl:5–15.
9. Carpenter TO, Carnes DL Jr, Anast CS. Hypoparathyroidism in Wilson's disease. N Engl J Med 1983;309:873–877.
10. Okada M, Higashi K, Enomoto S, Fujii Y, Yamane H, Tsujiuti K, et al. A case of Wilson's disease associated with hypoparathyroidism and amenorrhea. Nippon Shokakibyo Gakkai Zasshi 1998;95:445–449.
11. Oh KW, Kim SY, Lee HS, Choe BH, Ko CW, Koo JH. A case of minimal change nephrotic syndrome associated with D-penicillamine therapy of Wilson's disease. Korean J Pediatr Gastroenterol Nutr 2002;5:206–211.
12. Cho HY, Blum RA, Sunderland T, Cooper GJ, Jusko WJ. Pharmacokinetic and pharmacodynamic modeling of a copper-selective chelator (TETA) in healthy adults. J Clin Pharmacol 2009;49:916–928.
13. Singh J, Moghal N, Pearce SH, Cheetham T. The investigation of hypocalcaemia and rickets. Arch Dis Child 2003;88:403–407.
14. Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW, et al. MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. AJNR Am J Neuroradiol 2006;27:1373–1378.
15. Poskitt EM, Cole TJ, Lawson DE. Diet, sunlight, and 25-hydroxy vitamin D in healthy children and adults. Br Med J 1979;1:221–223.
16. Shoback D. Clinical practice. Hypoparathyroidism. N Engl J Med 2008;359:391–403.
17. Winer KK, Sinaii N, Reynolds J, Peterson D, Dowdy K, Cutler GB Jr. Long-term treatment of 12 children with chronic hypoparathyroidism: a randomized trial comparing synthetic human parathyroid hormone 1-34 versus calcitriol and calcium. J Clin Endocrinol Metab 2010;95:2680–2688.