A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management

Ten‐year follow‐up report and neurologic sequelae in a case of neonatal severe primary hyperparathyroidism

“…8,9 On the contrary, early diagnosis and treatment of NSHPT usually lead to gradual improvement in growth and neurodevelopmental milestones. 3,4,6 Ten years after initial presentation, our patient has mild intellectual disability, microcephaly and he is under treatment for epilepsy. According to his mother, the levels of serum calcium and PTH on occasional laboratory tests performed at earlier age were normal.…”

“…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. 2,5,6 However, neuromotor abnormalities may persist even after successful treatment, which warrants the long-term follow-up of these patients. 1 Considering the importance of the long-term outcome 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 life.…”

10-year follow-up report and neurologic sequelae in a case of neonatal severe primary hyperparathyroidism

“…Decreased sensitivity of the CaSR receptors to extracellular calcium results in PTH-hyperproduction and consequently, severe hypercalcemia (1), which can be potentially fatal or associated with severe neurodevelopmental impairments in untreated NSHPT patients (8,9). On the other hand, early diagnosis and treatment of NSHPT usually leads to gradual improvement in growth and neurodevelopmental milestones (3,4,6).…”

“…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)(3)(4)(5)(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).…”