Diazoxide-related Hyperglycemic Hyperosmolar State in a Child With Kabuki Syndrome.

Kabuki syndrome diazoxide hyperinsulinism hyperosmolar hyperglycemic syndrome

Journal

JCEM case reports
ISSN: 2755-1520
Titre abrégé: JCEM Case Rep
Pays: England
ID NLM: 9918609886906676

Informations de publication

Date de publication:
Jul 2024
Historique:
received: 22 01 2024
medline: 1 7 2024
pubmed: 1 7 2024
entrez: 1 7 2024
Statut: epublish

Résumé

Diazoxide is a commonly used first-line medication for the treatment of hyperinsulinism. Hyperglycemia may occur with diazoxide use. However, hyperglycemic hyperosmolar state (HHS) secondary to diazoxide is an exceedingly rare but potentially life-threatening adverse effect. We present a case of a 2-year-old with Kabuki syndrome and hyperinsulinism on diazoxide. She presented with 4 days of fever, respiratory symptoms, and lethargy. She was influenza B positive. Initial workup indicated HHS, with an elevated serum glucose (47.1 mmol/L [847.8 mg/dL]; reference range 3.9-6.0 mmol/L; 70-108 mg/dL), serum osmolality (357 mmol/kg H

Identifiants

pubmed: 38947417
doi: 10.1210/jcemcr/luae108
pii: luae108
pmc: PMC11210298
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Pagination

luae108

Informations de copyright

© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.

Auteurs

Harsh Kahlon (H)

Faculty of Medicine, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.

Joshua R Stanley (JR)

Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Division of Endocrinology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Cillian Lineen (C)

Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Division of Endocrinology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Carol Lam (C)

Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Division of Endocrinology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Classifications MeSH