Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
Bibliographic Data
| ID | 15718830 |
|---|---|
| Authors | Raluca Ioana Teleanu (0000-0003-3038-6939, Spitalul Clinic Dr. Victor Babes), Marlene Alexandra Sarman (0009-0006-8201-7798, Spitalul Clinic Dr. Victor Babes, corresponding author), Diana Epure (Spitalul Clinic Dr. Victor Babes), Diana Anamaria Epure (Pediatric Neurology Department—“Dr. Victor Gomoiu” Children’s Hospital, 022102 Bucharest, Romania), Margarita Matei (Spitalul Clinic Dr. Victor Babes), Ioana Roșca (0009-0002-4629-5820, Carol Davila University of Medicine and Pharmacy), Eugenia Roza (0000-0002-5061-7821, Carol Davila University of Medicine and Pharmacy) |
| Year | 2023 |
| Volume | 10 |
| Issue | 6 |
| Pages | 1011-1011 |
| Publication date | 2023-06-03 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children10061011 |
| PMID | 37371242 |
| OpenAlex | W4379467400 |
| Language | EN |
| References cited | 25 |
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the CASR gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal period has a wide differential diagnosis. We present the case of a female newborn with genetic hypoparathyroidism (L125P mutation of CASR gene), hypocalcemia, and neonatal seizures due to the potential correlation between refractory neonatal seizures and ADH1. Neonatal seizures were previously described in patients with ADH1 but not in association with the L125P mutation of the CASR gene. Prompt diagnosis and management by a multidisciplinary and an appropriate therapeutic approach can prevent neurological and renal complications
Bioinformatics · Biology · Calcium · Calcium metabolism · Calcium-sensing receptor · Differential diagnosis · Gene · Hypoparathyroidism · Mutation · Pathology · Genetic Syndromes and Imprinting · Medicine · Parathyroid Disorders and Treatments · Thyroid and Parathyroid Surgery · Endocrinology · Genetics · Internal Medicine · Pediatrics
| Highly cited | No |
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