BMJ case reports · 2025
An unusual cause of tetany in an infant born to a consanguineous couple with a sibling death.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Anne Rajendra Prasad, Mathai Sheila Samanta, Shetty Subhodh Sivarama, Bharadwaj Shruthi Kumar
Аннотация
In this case report, we present an infant with abnormal body movements in her second month. She was born of a third-degree consanguineous marriage, and the previous sibling, who had similar complaints beginning in the fourth month, expired in the fifth month. On reviewing the video recorded by parents, the abnormal movements were suggestive of tetany. Biochemical investigations showed hypocalcaemia, hypomagnesaemia, hypoparathyroidism, normal urinary excretion of calcium and urinary magnesium losses. Intravenous calcium and magnesium corrections were given, and oral supplements were initiated. The genetic evaluation revealed a TRPM6 variant, a cause of intestinal hypomagnesaemia. The baby is currently thriving well on magnesium supplements.