ROGERS SYNDROME-THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME: CASE REPORT

Authors

  • Alveena Younas Pakistan Air Forces Base Chaklala Cantt, Nur Khan, Rawalpindi Pakistan
  • Mohsin Younas Swansea Bay Health Board, United Kingdom
  • Aamir Ijaz Mohi Uddin Islamic Medical College, Mir Pur, Azad Jammu Kashmir
  • Zujaja Hina Haroon Armed Forces Institute of Pathology (National University of Medical Sciences) Rawalpindi Pakistan
  • Nida Basharat Rawal Institute of Health Sciences, Islamabad Pakistan

DOI:

https://doi.org/10.55629/pakjpathol.v33i2.711

Abstract

ABSTRACT      

Thiamine responsive megaloblastic anemia (TRMA) encompasses a complex syndrome of anemia, sensorineural hearing loss and Diabetes Mellitus. We report a 06 years old male child with pallor, bilateral sensorineural hearing loss, Diabetes Mellitus, megaloblastic anemia, retinitis pigmentosa and a normal response to water deprivation test. Child responded well to high doses of thiamine treatment. Rogers Syndrome, a spectrum disease, should be kept in mind in differential diagnosis of Diabetes Mellitus and megaloblastic anemia in population with frequent consanguinity. Thorough medical and family history and physical examination are vital for diagnosis. Prompt diagnosis, use of careful clinical monitoring and supportive care can relieve the debilitating symptoms.

Key Words: Diabetes Mellitus, Megaloblastic anemia, Sensorineural hearing loss, Rogers syndrome.

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Published

30-06-2022

Issue

Vol. 33 No. 2 (2022): Pakistan Journal of Pathology

Section

Case Report

License

Copyright (c) 2022 Pakistan Journal of Pathology

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