FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN

Majeed Syndrome

  • Qudrat Ullah Malik Combined Military Hospital/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Asbah Rahman Pak Emirates Military Hospital/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Farooq Ikram Combined Military Hospital/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Muhammad Shoaib Combined Military Hospital/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Uzma Akhlaque Armed Forces Institute of Rehabilitation Medicine/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Muhammad Tawab Khalil Armed Forces Institute of Rehabilitation Medicine/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
Keywords: Majeed syndrome, Chronic recurrent multifocal osteomyelitis (CRMO), LPIN2 mutation, Interleukin-6 (IL-6), Anakinra

Abstract

Majeed syndrome, characterized by chronic recurrent multifocal osteomyelitis and congenital dyserythropoeitic anemia, is a rare disease reported in children. We report a case of Majeed Syndrome in a 9-year-old boy, born of consanguineous marriage reporting to us for treatment of anemia, requiring blood transfusion. He underwent below-knee-amputation due to unresolving recurrent osteomyelitis at multiple sites. There was history of pain insensitivity and fever during hot weather as well. His interleukin-6 levels were raised. This is the first case of Majeed Syndrome from Pakistan and first in the world with Hereditary Sensory Autonomic Neuropathy type 4 as an associated feature.

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Published
2021-10-31
How to Cite
Malik, Q., Rahman, A., Ikram, F., Shoaib, M., Akhlaque, U., & Khalil, M. (2021). FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN. PAFMJ, 71(5), 1903-05. https://doi.org/10.51253/pafmj.v71i5.5930
Section
Case Reports

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