TY - JOUR
T1 - Blau Syndrome
T2 - An Unusual Cause of Hypercalcemia in a Child
AU - Lo, Hana Barbra
AU - Muskardin, Theresa Wampler
AU - Tebben, Peter J.
N1 - Publisher Copyright:
© 2018 Elsevier Inc.
PY - 2018/7/1
Y1 - 2018/7/1
N2 - Objective: To report a case of symptomatic vitamin D-mediated hypercalcemia in a girl with Blau syndrome, a rare granulomatous inflammatory disease occurring in early childhood. Methods: Clinical, laboratory, imaging, and genetic findings are presented along with response to therapy. Results: A 5-year-old girl with a history of surgically treated Graves disease presented with a serum calcium of 13.5 mg/dL (reference range is 9.6 to 10.6 mg/dL), phosphorus of 5.3 mg/dL (reference range is 3.7 to 5.4 mg/dL), parathyroid hormone of 6 pg/mL (reference range is 15 to 65 pg/mL), and an inappropriate 1,25-dihydroxyvitamin D3 of 64 pg/mL (reference range is 24 to 86 pg/mL). Her hypercalcemia was accompanied by painless, boggy joint effusions and hypertension. Additional testing revealed an elevated angiotensin-converting enzyme concentration and negative fungal and tuberculosis tests. Genetic testing revealed a mutation in the NOD2 gene, confirming the diagnosis of Blau syndrome. Hypercalcemia resolved with treatment of Blau syndrome. Conclusion: Endogenous vitamin D-mediated hypercalcemia is uncommon in children and can be resolved with treatment of the underlying granulomatous disorder. Blau syndrome should be considered in children with vitamin D-mediated hypercalcemia who present with inflammatory joint, skin, and/or eye diseases.
AB - Objective: To report a case of symptomatic vitamin D-mediated hypercalcemia in a girl with Blau syndrome, a rare granulomatous inflammatory disease occurring in early childhood. Methods: Clinical, laboratory, imaging, and genetic findings are presented along with response to therapy. Results: A 5-year-old girl with a history of surgically treated Graves disease presented with a serum calcium of 13.5 mg/dL (reference range is 9.6 to 10.6 mg/dL), phosphorus of 5.3 mg/dL (reference range is 3.7 to 5.4 mg/dL), parathyroid hormone of 6 pg/mL (reference range is 15 to 65 pg/mL), and an inappropriate 1,25-dihydroxyvitamin D3 of 64 pg/mL (reference range is 24 to 86 pg/mL). Her hypercalcemia was accompanied by painless, boggy joint effusions and hypertension. Additional testing revealed an elevated angiotensin-converting enzyme concentration and negative fungal and tuberculosis tests. Genetic testing revealed a mutation in the NOD2 gene, confirming the diagnosis of Blau syndrome. Hypercalcemia resolved with treatment of Blau syndrome. Conclusion: Endogenous vitamin D-mediated hypercalcemia is uncommon in children and can be resolved with treatment of the underlying granulomatous disorder. Blau syndrome should be considered in children with vitamin D-mediated hypercalcemia who present with inflammatory joint, skin, and/or eye diseases.
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U2 - 10.4158/ACCR-2017-0041
DO - 10.4158/ACCR-2017-0041
M3 - Article
AN - SCOPUS:85099343298
SN - 2376-0605
VL - 4
SP - e278-e281
JO - AACE Clinical Case Reports
JF - AACE Clinical Case Reports
IS - 4
ER -