Leg pain leads to hypoparathyroidism diagnosis in girl: Report
Testing for the rare disorder important in such cases, researchers say
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Hypoparathyroidism was found to be the cause of unexplained leg pain for an 11-year-old girl, highlighting the importance of testing for the rare disorder in children with unexplained muscle pain, according to a case report.
The case was discussed in the paper, “Eleven-Year-Old Girl With Bilateral Leg Pain: A Case Report on Recognizing Hypoparathyroidism in Pediatric Practice,” which was published in the Journal of Pediatric Health Care.Â
Hypoparathyroidism is characterized by abnormally low levels of parathyroid hormone (PTH), a signaling molecule that helps regulate calcium and phosphorus levels in the body. Low PTH levels lead to low calcium levels, which can cause a range of symptoms, including muscle cramps, brain fog, and fatigue. Diagnosing hypoparathyroidism may be more difficult when patients have atypical symptoms.
“The efficient diagnosis and management of hypoparathyroidism is crucial to avoid the long-term sequelae of disease including chronic kidney disease, renal stones, arrhythmias [irregular heartbeat], cataracts [clouding of the eye lens], anxiety, and depression,” the researchers wrote.
Girl experienced fatigue, tingling in legs
Here, scientists in Canada described the case of a girl who was brought to the emergency room due to unexplained leg pain, which she described as a shooting sensation from her thighs down to her feet. This pain had started a few weeks earlier, around the same time that the girl had gotten sick with a respiratory infection. But the pain continued well after the infection cleared up, prompting her to seek medical attention.
Physical examination of the girl didn’t show any obvious problems. She said she’d experienced some fatigue and tingling in her legs, but didn’t have any other common hypoparathyroidism symptoms such as muscle cramps or mood changes.
Initial lab tests revealed abnormally low calcium levels and elevated creatine kinase, a marker of muscle damage. The girl’s medical history and these findings prompted a diagnosis of viral myositis (inflammation or swelling of the muscles), and a pediatric appointment was arranged for the next day. Further workups revealed abnormally low PTH levels and elevated phosphate levels.
In children presenting with unexplained [muscle pain], consider checking calcium levels and parathyroid hormone.
Additional testing was done to see if the girl had a genetic cause of hypoparathyroidism, but these tests were negative. As such, the girl was ultimately diagnosed with idiopathic hypoparathyroidism, meaning the root cause of the disease is not known.
Over the course of a week in the hospital, the girl received calcium supplements and vitamin D, which help the body absorb calcium. Her muscle pain subsided, and she was discharged from the hospital on a steady dose of supplements.
Overall, the researchers concluded that this case highlights the importance of considering hypoparathyroidism as a potential cause in children with unexplained muscle pain.
“In children presenting with unexplained [muscle pain], consider checking calcium levels and parathyroid hormone,” the scientists wrote.
