Open AccessFIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN
Author(s) -
Qudrat Ullah Malik,
Asbah Rahman,
Farooq Ikram,
Muhammad Shoaib,
Uzma Akhlaque,
Muhammad Tawab Khalil
Publication year - 2021
Publication title -
pakistan armed forces medical journal
Language(s) - English
Resource type - Journals
eISSN - 2411-8842
pISSN - 0030-9648
DOI - 10.51253/pafmj.v71i5.5930
Subject(s) - medicine , osteomyelitis , pediatrics , amputation , disease , anemia , surgery , pathology
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.