Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up
Affiliations
Affiliations
- Department of Population Health, Dasman Diabetes Institute, Kuwait; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Kuwait. Electronic address: Hessa.AlKandari@dasmaninstitute.org.
- Department of Population Health, Dasman Diabetes Institute, Kuwait; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.
- Department of Population Health, Dasman Diabetes Institute, Kuwait; Department of Pediatrics, Amiri Hospital, Ministry of Health, Kuwait.
- Department of Genetics and Bioinformatics, Dasman Diabetes Institute, Kuwait.
- Department of Population Health, Dasman Diabetes Institute, Kuwait.
Abstract
Aim: To report on Rabson-Mendenhall Syndrome (RMS) diagnosed in Kuwait.
Methods: A toddler (18 months old) was referred with high plasma insulin and dysmorphic features suggestive of RMS including coarse facial features with globular nose, full lips and furrowed tongue. His skin was hyperkeratotic with hypertrichosis. His sister (aged 13.5 years) was diagnosed with diabetes at 9 years of age and treated with metformin and insulin. She presented with similar dysmorphic features, extensive acanthosis nigricans, dental abnormalities and bilateral nephrocalcinosis. The children were born to non-consanguineous parents. Blood samples were sent for genetic testing in a reference laboratory.
Results: Both children were found to be homozygous for the p.Arg141Trp missense variant (p.Arg114Trp if numbered according to pro-receptor sequence) in the alpha subunit of the insulin receptor.
Conclusions: These cases demonstrate the importance of raising awareness among healthcare professionals to ensure rapid referral of patients with characteristic physical features of RMS and severe insulin resistance for genetic testing. Unfortunately, treatment of RMS patients remains a challenge with poor prognosis and short life expectancy usually caused by diabetes-related complications. Genetic testing confirms the diagnosis and allows informed genetic counseling of parents considering future pregnancies.
Keywords: Genetic testing; Rabson–Mendenhall Syndrome; Severe insulin resistance.
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