Neonatal primary hyperparathyroidism in familial hypocalciuric hypercalcemia
M. Matsuo, K. Okita, H. Takemine and T. Fujita
A Japanese female neonate exhibiting severe respiratory distress was found
to have primary hyperparathyroidism. Features included demineralization of
the bones, hypercalcemia, hypophosphatemia, and elevated levels of
parathyroid hormone, together with marked, generalized aminoaciduria. Four
enlarged parathyroid glands were surgically removed, and remineralization
of the bones was noticed after the operation. The characteristic pathologic
change of the glands was chief cell hyperplasia. A survey of the family
identified three other hypercalcemic but asymptomatic relatives. The mode
of inheritance was autosomal dominant. This patient seems to be the second
neonate with familial hypocalciuric hypercalcemia to be described in the
literature.
