TY - JOUR
T1 - Rabson–Mendenhall Syndrome in a brother-sister pair in Kuwait
T2 - Diagnosis and 5 year follow up
AU - Al-Kandari, Hessa
AU - Al-Abdulrazzaq, Dalia
AU - Al-Jaser, Fahed
AU - Al-Mulla, Fahd
AU - Davidsson, Lena
N1 - Funding Information:
The study was supported by Dasman Diabetes Institute (project RA 2012-003). Dasman Diabetes Institute DDI had no involvement in any aspects of the study.
Publisher Copyright:
© 2020
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - Genetic testing
KW - Rabson–Mendenhall Syndrome
KW - Severe insulin resistance
UR - http://www.scopus.com/inward/record.url?scp=85089753465&partnerID=8YFLogxK
U2 - 10.1016/j.pcd.2020.07.012
DO - 10.1016/j.pcd.2020.07.012
M3 - Article
AN - SCOPUS:85089753465
JO - Primary Care Diabetes
JF - Primary Care Diabetes
SN - 1751-9918
ER -