Long-term follow-up of a child with Wolcott-Rallison syndrome

Area of Science:

• Pediatrics
• Genetics
• Endocrinology

Background:

• Wolcott-Rallison syndrome (WRS) is a severe genetic disorder characterized by permanent neonatal diabetes mellitus (DM).
• WRS typically presents in infancy and is associated with a poor prognosis, with most affected children succumbing within the first decade of life.
• The syndrome is most commonly observed in families with consanguinity.

Purpose of the Study:

• To report the long-term follow-up of a patient with genetically confirmed Wolcott-Rallison syndrome.
• To document the clinical course and management of a rare case of WRS in a non-consanguineous family.
• To highlight the extended survival and atypical clinical manifestations in a pediatric patient with WRS.

Main Methods:

• Case report detailing the clinical history, genetic confirmation, and long-term follow-up of a patient with WRS.
• Management included basal bolus insulin therapy for diabetes mellitus.
• Clinical assessment for skeletal dysplasia, hepatitis, and liver dysfunction was performed.

Main Results:

• The patient, diagnosed with WRS, is an 8-year-2-month-old girl from a non-consanguineous parentage.
• She is managed with insulin therapy and exhibits skeletal dysplasia leading to short stature.
• Notably, the patient has remained free of hepatitis and liver dysfunction, common complications in WRS.
• This represents the oldest surviving patient with WRS reported in India and South Asia.

Conclusions:

• This case demonstrates that long-term survival is possible in Wolcott-Rallison syndrome, even in non-consanguineous families.
• Atypical presentations, such as the absence of hepatitis, can occur in WRS.
• Extended follow-up is crucial for understanding the full spectrum and management of WRS.