Acta Med. 2018, 61: 53-56

Severe Hypocalcemia and Extreme Elevation of Serum Creatinkinase in a 16-Year Old Boy with Pseudohypoparathyroidism Type Ib

Štěpán Kutíleka,b,c, Ivana Plášilováa,c, Kristýna Hasenöhrlovác, Hana Černác, Kristýna Hanulíkovác

aDepartment of Pediatrics, Hradec Králové Faculty Hospital and Medical Faculty, Charles University, Czech Republic
bDepartment of Pediatrics, Klatovy Hospital, Czech Republic
cDepartment of Pediatrics, Pardubice Hospital, Czech Republic

Received March 27, 2018
Accepted May 29, 2018

Calcium is essential for proper muscular function and metabolism. Myopathy with high creatinkinase activity can be a rare manifestation of hypocalcemia of various origin, such as vitamin D deficiency, hypoparathyroidism, pseudohypoparathyroidism (PHP). 16-year old previously healthy boy was admitted to intensive care unit with convulsions lasting for three minutes and a transient loss of consciousness. Laboratory results revealed severe hypocalcemia (total S-Ca < 1.0 mmol/L; normal 2.2–2.6 mmol/L), hyperphosphatemia (S-P 2.8 mmol/L; normal 0.6–1.6 mmol/L). Serum creatinkinase (S-CK) activity was 32 μkat/L (normal 0.57–2.45 μkat/L). Other basic biochemical parameters including creatinine, troponin, alkaline phosphatase were within normal values. Calcemia was gradually corrected within two weeks by intravenously and orally administered calcium and by cholecalciferol. S-CK reached a maximum of 222 μkat/L on day 4 and dropped to 7.2 μkat/L on day 14. Boy had no myalgias, neither clinical signs of myopathy. Echocardiography was normal with normal myocardial contractility, without any signs of calcification. The serum level of parathyroid hormone (S-PTH) was high (12 pmol/L; normal 0.7–5.5 pmol/L), fully compatible with the diagnosis of PHP. Molecular analysis revealed pseudohypoparathyroidism type Ib (PHPIb).In conclusion, manifest tetany and even mild myopathy with very high S-CK can occur in hypocalcemic patients and usually resolves after normalization of hypocalcemia.


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