FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN: Majeed Syndrome

Qudrat Ullah Malik; Asbah Rahman; Farooq Ikram; Muhammad Shoaib; Uzma Akhlaque; Muhammad Tawab Khalil

doi:10.51253/pafmj.v71i5.5930

Authors

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

DOI:

https://doi.org/10.51253/pafmj.v71i5.5930

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.