Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia.
A boy is described who presented aged 7 weeks with severe biochemical and radiological neonatal hyperparathyroidism that had completely resolved by the age of 6 months. His mother had a normal serum calcium concentration but his father, paternal aunt, and paternal cousin all had a raised serum calcium due to familial hypocalciuric hypercalcaemia.
Wilkinson
H
H
Biochemistry Department, York District Hospital.
James
J
J
D001049:Apnea / Q000209:etiology; D002118:Calcium / Q000652:urine*; D005542:Forearm / Q000000981:diagnostic imaging; D006801:Humans; D006934:Hypercalcemia / Q000150:complications / Q000151:congenital* / Q000000981:diagnostic imaging / Q000652:urine; D006961:Hyperparathyroidism / Q000000981:diagnostic imaging / Q000209:etiology*; D007231:Infant, Newborn; D008297:Male; D011859:Radiography
D002118:Calcium