FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN

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 bl...

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Autores principales: Qudrat Ullah Malik, Asbah Rahman, Farooq Ikram, Muhammad Shoaib, Uzma Akhlaque, Muhammad Tawab Khalil
Formato: article
Lenguaje:EN
Publicado: Army Medical College Rawalpindi 2021
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Acceso en línea:https://doaj.org/article/31452a63d9d7455081c5346e84087eed
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Sumario: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.