DOI: https://dx.doi.org/10.18203/2320-6012.ijrms20220306
Published: 2022-01-29

Familial hypomagnesemia with hypercalciuria with nephrocalcinosis: a rare case report

Amaresh Roy, Sumanta Laha, Susama Saren

Abstract


A 4 years old girl child was presented with generalised body ache with carpopedal spasm and episodes of fever since last 5-6 days with intermittent abdominal pain since last 3 months and progressive deformity of both upper and lower limbs over months and poor growth. Examination showed short stature with bowing of both legs and arms with widening of wrist. USG revealed bilateral medullary nephrocalcinosis, serum parathyroid and 25-VitD and calcium were very low and urine calcium excretion and serum creatinine were high with urine culture was positive for E. coli. She was finally diagnosed as a case of familial hypomagnesemia with hypercalciuria with nephrocalcinosis.


Keywords


Carpopedal spasm, Short stature, Serum parathyroid, Medullary nephrocalcnosis

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References


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