NEONATAL DIABETES MELLITUS – IS TRISOMY 21 ASSOCIATED WITH REFRACTORY HYPERGLYCAEMIA?

Authors

  • Adnan Mirza The Aga Khan University Hospital, Karachi, Pakistan
  • Rubaid Dhillon Islamic International Medical College Riphah International University
  • Omar Irfan Aga Khan University
  • Amin Ali The Aga Khan University Hospital, Karachi, Pakistan
  • Muhammad Salat The Aga Khan University Hospital, Karachi, Pakistan

DOI:

https://doi.org/10.55519/JAMC-03-S1-9377

Keywords:

Hyperglycemia, Intrauterine growth retardation, Trisomy-21, Pericardial tamponade

Abstract

Background: Neonatal diabetes mellitus is a rare disorder characterized by refractory hyperglycaemia which is further divided into two types, transient (TNDM) and permanent neonatal diabetes (PNDM), which is associated with genetic aberrations at the human chromosome 6q24 accompanied with pancreatic structural abnormalities or b-cell dysfunction requiring insulin treatment. This case report analyzes a rare correlation between a case of permanent neonatal diabetes mellitus with Trisomy 21. Methods: An infant presented with intrauterine growth retardation and very low birth weight showing signs of persistent hyperglycaemia where genetic analysis suggested presence of permanent neonatal diabetes mellitus accompanied with Trisomy 21. Chest X-ray examination alongside an echocardiogram revealed significant pericardial tamponade. By the 6th week of life, pericardial effusion spontaneously resolved supported by normal follow-up echocardiograms without any treatment plan. The patient became euglycemic by 3rd week of life and discharged. Conclusion: Neonates with diabetes mellitus usually present with clinical features such as low-birth weight, ketoacidosis, consistent insulin-requiring hyperglycaemia and preterm. This case report shows a correlation between neonatal diabetes and genetic syndromes. Treatment plans can be improved by conducting genetic studies between these two variables and understanding the long-term outcomes.

Author Biographies

Adnan Mirza, The Aga Khan University Hospital, Karachi, Pakistan

Fellow Neonatal Fellowship Program

Rubaid Dhillon, Islamic International Medical College Riphah International University

4th year MBBS Student

Omar Irfan, Aga Khan University

Hospital for Sick Children

Amin Ali, The Aga Khan University Hospital, Karachi, Pakistan

Fellow Neonatal Fellowship Program

Muhammad Salat, The Aga Khan University Hospital, Karachi, Pakistan

Fellow Neonatal Fellowship Program

References

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Published

2022-06-24

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