Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality
Abstract
Objectives: Describe the details of the clinical presentation, diagnostic challenges, and management of a female neonate with neonatal severe hyperparathyroidism (NSHPT). Methods: This case report was developed from a retrospective chart review. The female infant was born to consanguineous parents-first cousins, with multiple prenatal concerns, including gestational diabetes, intrauterine growth restriction, polyhydramnios, and suspicion of a hypoplastic left atrium on prenatal echocardiogram (ECHO). Following a planned C-section at 37 weeks gestation, the neonate exhibited moderate respiratory distress with subcostal retractions. On physical examination, craniotabes, a bell-shaped chest, and a continuous machinery-type murmur were noted. Results: Evaluation at birth revealed a large Patent Ductus Arteriosus and significant demineralization of skeletal structures with atypical rib morphology. Lab work at 24 h of life (HOL) showed elevated serum calcium level (14.3 mg/dL), ionized calcium-iCal (2.32 mmol/L), and normal 25-OH Vitamin D (54.2 ng/mL). A comprehensive skeletal survey uncovered generalized osteopenia, metaphyseal lucencies, and evidence of healing fractures. Repeat lab work at 43 HOL, showed serum calcium of 18.0 mg/dL, iCal 2.67 mmol/L, and elevated parathyroid hormone (PTH) of 2116 pg/mL. Diagnosis of NSHPT was established based on laboratory findings. Molecular testing confirmed a homozygous variant (c.1744T >A; p.Cys582Ser) in the calcium-sensing receptor…
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