Neonatal Severe Hyperparathyroidism due to Compound Heterozygous Mutation of Calcium Sensing Receptor (CaSR) Gene Presenting as Encephalopathy

The authors report a 14-d-old neonate who presented with lethargy, polyuria and dehydration and was found to have severe hypercalcemia with hyperparathyroidism. This neonate was treated with saline hydration, diuresis and injection pamidronate. Genetic analysis revealed a compound heterozygous mutat...

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Bibliographic Details
Published in:	Indian journal of pediatrics Vol. 81; no. 11; pp. 1228 - 1229
Main Authors:	Kulkarni, Abhishek, Mohite, Mahesh, Vijaykumar, Ramaa, Bansode, Prasanna, Murade, Sachin, Tamhankar, Parag M.
Format:	Journal Article
Language:	English
Published:	India Springer India 01-11-2014 Springer
Subjects:	Biological and medical sciences Brain Diseases - diagnosis Brain Diseases - genetics Brain Diseases - therapy Clinical Brief Diagnosis, Differential Endocrinopathies General aspects Gynecology Heterozygote Humans Hypercalcemia - diagnosis Hypercalcemia - genetics Hypercalcemia - therapy Hyperparathyroidism - diagnosis Hyperparathyroidism - genetics Hyperparathyroidism - therapy Infant, Newborn Male Medical sciences Medicine Medicine & Public Health Non tumoral diseases. Target tissue resistance. Benign neoplasms Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases) Pediatrics Receptors, Calcium-Sensing - genetics Hypercalcemia ) Neonatal severe hyperparathyroidism (NSHP) Calcium sensing receptor Hyperparathyroidism Endocrinopathy Human Pediatrics Nervous system diseases Hydroelectrolytic balance disorder Calcium Calcium sensing receptor (CaSR) Inorganic element Cerebral disorder Symptomatology Metabolic disorder Newborn Parathyroid diseases Encephalopathy Central nervous system disease Tropical medicine Mutation Inaugural sign
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Summary:	The authors report a 14-d-old neonate who presented with lethargy, polyuria and dehydration and was found to have severe hypercalcemia with hyperparathyroidism. This neonate was treated with saline hydration, diuresis and injection pamidronate. Genetic analysis revealed a compound heterozygous mutation of CaSR .
ISSN:	0019-5456 0973-7693
DOI:	10.1007/s12098-014-1442-3