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eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
Bieżący numer Archiwum Artykuły zaakceptowane O czasopiśmie Suplementy Rada naukowa Recenzenci Bazy indeksacyjne Prenumerata Kontakt Zasady publikacji prac Opłaty publikacyjne Standardy etyczne i procedury
Panel Redakcyjny
Zgłaszanie i recenzowanie prac online
SCImago Journal & Country Rank
3/2022
vol. 28
 
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Opis przypadku

Zespół Wolcotta-Rallisona: seria trzech przypadków

Fozia Memon
1
,
Muzna Arif
1
,
Salman Kirmani
1
,
Khadija N. Humayun
1

  1. Pediatric and Child Health Section of Pediatric Endocrinology, Aga Khan University, Pakistan
Pediatr Endocrinol Diabetes Metab 2022; 28 (3): 238–240
Data publikacji online: 2022/09/14
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Introduction
Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation.

Case series
All cases presented with high glucose levels and were treated with insulin. EIF2AK3 homozygous mutation was identified in all 3 on genetic analysis. Initial screening testing for associated comorbidities was normal, including X-ray examination, which did not show any signs of epiphyseal dysplasia in all cases. Case 2 and case 3 were both lost to follow-up and were later found to have expired at the ages of 18 months and 2 years, respectively, due to liver failure associated with intercurrent respiratory illness in hospitals in their native towns. Case one is now 2 years old on regular follow-up in paediatric Endocrine and neurology clinics and doing well so far.

Conclusions
Morbidity, as well as mortality, is high among children with WRS neonatal diabetes. It is crucial to screen for gene mutation in patients with diabetes diagnosed before 6 months. Close therapeutic monitoring is recommended in WRS because of the risk of acute episodes of hypoglycaemia and ketoacidosis.

słowa kluczowe:

Wolcott-Rallison syndrome (WRS), permanent neonatal diabetes mellitus (PNDM), skeletal dysplasia, liver failure


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