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J Pediatr Genet
DOI: 10.1055/s-0043-57005
Original Article

Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia—Wolcott–Rallison's Syndrome

Shantala J. 
1   Department of Paediatric and Adolescent Endocrinology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Zalak Upadhyay 
2   Endokids Care, Bengaluru, Karnataka, India
,
Vani H. N. 
1   Department of Paediatric and Adolescent Endocrinology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Santhosh Olety Sathyanarayana 
3   Department of Paediatric and Adolescent Endocrinology, Karnataka Institute of Diabetology, Bengaluru, Karnataka, India
,
Raghupathy Palany 
1   Department of Paediatric and Adolescent Endocrinology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Shruthi J. 
4   Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
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Abstract

Wolcott–Rallison's syndrome (WRS) is a rare nonautoimmune autosomal recessive disorder characterized by neonatal diabetes mellitus, epiphyseal dysplasia, and growth retardation. This is the most common cause of diabetes mellitus in patients with consanguineous parents. WRS is distinguished from other types of neonatal or early-onset diabetes by clinical characteristics and genetic testing. Here, we report four cases of WRS from South India. All four children reported here were born to consanguineous parents and were diagnosed with neonatal diabetes and skeletal dysplasia. Case 1 is a 13-year-old girl with neonatal diabetes and skeletal dysplasia. Case 2 is a 6-month-old male infant who also has primary hypothyroidism. Case 3 was a girl who lived until the age of 4 years before succumbing to liver failure. Case 4 is an 8-month-old female infant born to a third-degree married couple who presented with neonatal diabetes and diabetic ketoacidosis. Genetic testing revealed that she had WRS, which helps us in the anticipation and early treatment of complications.

Keywords

neonatal diabetes - epiphyseal dysplasia - Wolcott–Rallison's syndrome

Consent

Consent of all cases taken.


Authors Contribution

All authors contributed equally while doing this case series.




Publication History

Received: 19 May 2022

Accepted: 11 March 2023

Article published online:
18 April 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
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