We have a neonate with severe hypocalcemia, who presented with apneic spells and and tonic seizures at 7th day of life. Physical exam was positive for bilateral corneal opacities otherwise active and asymptomatic expect posturing which occur periodically. Labs showed hypoparathyroidism and hypomagnessemia. Normal renal functions, heart and blood pressures. No significant family history. TORCH is negative.
We have started him on IV and PO calcium gluconate and MgSo4...since levels could not be maintained by appropriate dosage so he continues with seizures.
Did you consider primary hypomagnesemia with secondary hypocalcemia? Was a mutation analysis done?
No apparent for low magnessium. Any specific analysis in this case??
I refer any association of bilateral corneal opacities, hypoparathyroidism, hypomagnessemia and hypocalcemia, seziures. No any obvious dysmorphism, kidneys, liver and heart are ok.