Publication: A Neonate Presenting with Severe Dehydration - A Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis
Date
2024
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Medical Association
Abstract
Abstract
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ. The most common form, accounting for more than 95% of cases, is caused by 21-hydroxylase deficiency. Delay in the diagnosis and treatment can lead to life-threatening adrenal crisis with hemodynamic collapse. We report a case of a five-day-old male neonate with congenital adrenal hyperplasia and salt-wasting crisis. The diagnosis was made after comprehensive assessment of clinical features and laboratory investigations. He was treated with hydrocortisone and fludrocortisone and was discharged after one week.
Description
Anita Lamichhane
Department of Pediatrics, Lumbini Medical College and Teaching Hospital, Prabhas, Palpa, Nepal
Rekha Phuyel
Department of Pediatrics, Lumbini Medical College and Teaching Hospital, Prabhas, Palpa, Nepal
Manish Upreti
https://orcid.org/0000-0002-1215-8150
Ramesh Khadka
Department of Pediatrics, Lumbini Medical College and Teaching Hospital, Prabhas, Palpa, Nepal