Long-term follow-up of a child with Wolcott-Rallison syndrome.
diabetes
metabolic disorders
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
13 May 2021
13 May 2021
Historique:
entrez:
14
5
2021
pubmed:
15
5
2021
medline:
18
5
2021
Statut:
epublish
Résumé
Wolcott-Rallison syndrome (WRS), the most common cause of permanent neonatal diabetes mellitus (DM) in consanguineous families, has a poor prognosis, with a mean survival of 5.8 years. Majority of children with WRS succumb to the disease in the first decade of life. We present the long-term follow-up of an 8-year-2-month-old girl with genetically proven WRS who was born to a non-consanguineous parentage. She is on basal bolus regimen of insulin therapy for DM. In addition, she was noted to have features of skeletal dysplasia at 3 years and 3 months of age, which has led to her short stature. Surprisingly, she has had no episodes of hepatitis or liver dysfunction so far, which is frequently seen in children with WRS. To the best of our knowledge, she is the oldest surviving patient with WRS reported in India and South Asia.
Identifiants
pubmed: 33986015
pii: 14/5/e242376
doi: 10.1136/bcr-2021-242376
pmc: PMC8126271
pii:
doi:
Substances chimiques
eIF-2 Kinase
EC 2.7.11.1
Types de publication
Journal Article
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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