Qudrat Ullah Malik, Asbah Rahman, Farooq Ikram, Muhammad Shoaib, Uzma Akhlaque, Muhammad Tawab Khalil.
First reported case of majeed syndrome from Pakistan.
Pak Armed Forces Med J Jan ;71(5):1903-05.
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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