Primary hypomagnesaemia. A case report and literature review.
A case of primary hypomagnesaemia with secondary hypocalcaemia in an Arab girl of consanguineous parents is reported. She presented at the age of 3 weeks with generalised convulsions, was treated with magnesium supplements and followed up for 5 years during which she showed normal physical and psychomotor development. In view of the striking male preponderance among the reported cases and the presence of parental consanguinity in a few, the inheritance is discussed and genetic heterogeneity is suggested.
D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology; D007231:Infant, Newborn; D008275:Magnesium Deficiency / Q000235:genetics*; D012640:Seizures / Q000209:etiology