Korean J Pediatr Gastroenterol Nutr.  2011 Mar;14(1):86-90. 10.5223/kjpgn.2011.14.1.86.

Hypocalcemic Tetany in a 13-Year-Old Girl with Wilson's Disease

• Ra C
• Kim SY
• Koh H

• KMID: 1451211
• DOI: http://doi.org/10.5223/kjpgn.2011.14.1.86

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.

Keyword

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

MeSH Terms

Adolescent
Brain
Calcium
Copper
Cornea
Disease Progression
Hepatolenticular Degeneration
Humans
Hypocalcemia
Hypoparathyroidism
Liver
Magnesium
Tetany
Vitamin D
Vitamin D Deficiency
Calcium
Copper
Magnesium
Vitamin D

Figure

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  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).

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