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.