MICHAELIS-CASTRILLO SYNDROME - A CASE REPORT
Abstract
Four years old female child presented with fever, tetany and stridor. Child on evaluation was found to have low serum calcium and magnesium. 24 hours urinary calcium and magnesium excretion were increased. Spot calcium creatinine ratio was increased and also fractional excretion of magnesium. Serum PTH was normal. ABG was normal. Hearing and ophthal evaluation was normal. Urine culture grew klebsiella.USG abdomen showed bl nephrocalcinosis and no calculi. Renal parameters were normal. It was a case of FHHN syndrome or Michaelis castrillo syndrome. Tetany was treated with IV calcium and then child was put on oral magnesium supplementation and Thiazide diuretic to reduce calciuria and is under regular follow up. This is a syndrome with autosomal recessive inheritance. Patient has severe renal wasting of calcium and magnesium and secondary nephrocalcinosis. Renal failure occurs in second or third decade. Last reported case from India was this syndrome in siblings from Tamil Nadu in 2006. So far only two reports are there.
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