Introduction
Neonatal severe primary hyperparathyroidism (NSHPT) is a rare,
potentially life-threatening autosomal recessive disease characterized
by severe hyperparathyroidism, marked hypercalcemia, and metabolic bone
disease (1). Patients mainly present with poor feeding, failure to
thrive, hypotonia, lethargy, polyuria, dehydration, respiratory
distress, intestinal dysmotility, and skeletal demineralisation during
the first few weeks after birth (2-6).
If not promptly diagnosed and treated, NSHPT can be associated with high
mortality or irreversible neurodevelopmental, renal, skeletal, or cardic
complications (2). Although successful medical management of NSHPT has
been recently reported (3,4), early parathyroidectomy followed by
calcium supplementation and regular monitoring of serum calcium and PTH
levels has been traditionally recommended as the definite therapy of
NSHPT (2,5,6). However, neuromotor abnormalities may persist even after
otherwise successful treatment of NSHPT patients, which warrants the
long-term follow-up of these patients (1).
Considering the importance of long-term outcomes and prognosis of NSHPT,
especially regarding neurological development and endocrine problems, we
present a 10-year follow-up on a previously-reported case of NSHPT who
underwent total parathyroidectomy on the 11th day of his life.