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J Craniofac Genet Dev Biol ; 10(2): 205-14, 1990.
Article in English | MEDLINE | ID: mdl-2211966

ABSTRACT

We describe a 29-year-old male with untreated primary neonatal hyperparathyroidism. Hypotonia, poor feeding, failure to thrive, and developmental delay were noted in early infancy and in incidental serum calcium of 3.8 mmol/L was dismissed as a laboratory error. Childhood was characterized by profound muscle wasting and progressive spastic quadriparesis. Distinctive skeletal deformities, facial dysmorphism, and perichondral calcifications are now evident in adulthood. Elevated serum calcium (range: 2.7-3.3 mM; normal less than 2.7 mM), serum immunoreactive parathyroid hormone (range: 1,405-1,817 pg/mL; normal 50-140 pg/mL), and markedly decreased urinary calcium excretion (0.04 mumol/dL glomerular filtrate; normal greater than 25) suggested the diagnosis of primary neonatal hyperparathyroidism. This was supported by evidence of hypocalciuric hypercalcemia--the autosomal dominant carrier state--in both the parents. Our case illustrates the profound neurodevelopmental deficits arising from sustained hypercalcemia in infancy and childhood. Although this disorder is not lethal, it should be considered a neonatal emergency, since surgical parathyroidectomy can result in cure.


Subject(s)
Hypercalcemia/etiology , Hyperparathyroidism/genetics , Nervous System Diseases/etiology , Adult , Consanguinity , Humans , Hyperparathyroidism/complications , Hyperparathyroidism/diagnostic imaging , Infant , Intellectual Disability/etiology , Male , Nervous System/growth & development , Pedigree , Radiography
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