Familial Primary Hypomagnesemia Complicated with Brain Atrophy and Cardiomyopathy

兩歲男孩因頑固性痙變，及心智運動發育遲緩并明顯退步，而住院檢查。他的出生史正常。二週大時初次發生痙變，合并低血鈣；以鈣治療後，至七個月時再復發。情況漸加重，無法用藥物控制。實驗室檢查，發現低血鈣，低血鎂，副甲狀線功能低下，腦萎縮，及心肌病變。确定腎臟無異常的镁流失，腸胃無吸收不良情形，病人在補充鎂後，痙變消失。他的副甲狀線功能低下及心肌病變，也逐漸完全回復正常。他的心智運動發育，回復原況并稍有進步。目前六歲，心智發展里程仍維持約二歲程度，偶有痙變；故給予phenobarbital， carbamazepine，及氧化鎂(500mg每日口服三次)維持。病人的妹妹，於四個月時出現痙變及低血鎂，給予鎂補充後，控制良好。現年一歲十個月，心智運動運動發育正常，僅以氧化鎂(125mg每日口服二次)維持。

關鍵字

原發性低血鎂症；心肌病變；腦萎縮；副甲狀線功能低下

並列摘要

A 2 5112-year-old Chinese boy was investigated for refractory seizures and psychomotor regression. His birth history was unremarkable. Generalized seizures occurred at 2 weeks of age with hypocalcemia. They recurred at 7 months of age and have become aggravated since. During hospitalization, in addition to hypocalcemia and hypomagnesemia, he was found to have hypoparathyroidism, cardiomyopathy, and brain atrophy. Excessive renal loss of magnesium, general intestinal malabsorption, or inadequate dietary intake of magnesium were excluded. He was successfully treated with oral supplements of 19-25 mmole/day of magnesium. Over a few months, he made a dramatic progress in development. His hypoparathyroidism and cardiomyopathy gradually resolved. However, intermittent seizures and psychomotor retardation persisted up to his present age of 6 3/12years. At 4 months of age his younger sister also developed seizures and was found to have isolated hypomagnesemia. This was corrected by oral magnesium and followed by resolution of the seizure. She has developed normally up to her present age of 10/12 years. Both patients are currently maintained on oral magnesium oxide.

並列關鍵字

primary hypomagnesemia ； hypoparathyroidism ； cardiomyopathy ； brain atrophy

國際替代計量

Familial Primary Hypomagnesemia Complicated with Brain Atrophy and Cardiomyopathy

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