Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
A Case of Osteitis Fibrosa Cystica of the Mandible: A Rare Presentation during Pregnancy due to Mutation.
J ASEAN Fed Endocr Soc
December 2024
Topiwala National Medical College and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, India.
Typically, primary hyperparathyroidism (PHPT) develops as a result of multiglandular hyperplasia, parathyroid cancer, or parathyroid adenoma. Patients usually present with skeletal manifestations such as low-trauma fractures. Osteitis fibrosa cystica (OFC) is a classic yet rare skeletal manifestation of advanced PHPT currently reported in less than 2% of patients.
View Article and Find Full Text PDFFamilial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.
J Bone Miner Res
September 2024
Department of Pediatrics (Endocrinology), Yale University School of Medicine, New Haven CT06520, United States.
Familial hypocalciuric hypercalcemia (FHH) is typically a benign condition characterized by elevated serum calcium, low urinary calcium excretion, and non-suppressed circulating levels of parathyroid hormone (PTH), usually requiring no intervention. FHH is inherited in an autosomal-dominant manner. Three subtypes are described, representing variants in genes with critical roles in extracellular calcium-sensing.
View Article and Find Full Text PDFNeonatal hypocalcaemic seizures unmasking asymptomatic maternal primary hyperparathyroidism.
BMJ Case Rep
February 2024
Neonatology, All India Institute of Medical Science, Jodhpur, Rajasthan, India.
Hypocalcaemia is a common cause of neonatal seizures. Here, we present a breastfed neonate with smooth perinatal transition and no family history of seizures presenting at 3 weeks with recurrent multifocal clonic seizures. On evaluation, the neonate was found to have low iCa and total calcium.
View Article and Find Full Text PDFRare cause of persistent hypocalcaemia in infancy due to PTH gene mutation.
BMJ Case Rep
September 2023
Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India
Hypocalcaemia is a frequently encountered electrolyte abnormality in neonates and it is mostly transient. However, persistent hypocalcaemia can point towards an endocrine abnormality like hypoparathyroidism, which is usually due to genetic disorders like DiGeorge and Kearns Sayre syndrome or due to mutations of genes like GCM2, CaSR and PTH.Our patient was a female child, who presented with hypocalcaemic convulsions in the neonatal period.
View Article and Find Full Text PDFA Case of Severe Neonatal Hypocalcemia Treated With Continuous Enteral Calcium.
AACE Clin Case Rep
April 2023
Department of Pediatrics, The Warren Alpert Medical School of Brown University, Providence, Rhode Island.
Background/objective: Hypocalcemia is a common, treatable cause of neonatal seizures. The rapid repletion of calcium is essential for restoring normal calcium homeostasis and resolving seizure activity. The accepted approach to administer calcium to a hypocalcemic newborn is via peripheral or central intravenous (IV) access.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!