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...

Descripción completa

Guardado en:

Detalles Bibliográficos
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
Materias:	majeed syndrome chronic recurrent multifocal osteomyelitis (crmo) lpin2 mutation interleukin-6 (il-6) Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/31452a63d9d7455081c5346e84087eed
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:31452a63d9d7455081c5346e84087eed
record_format	dspace
spelling	oai:doaj.org-article:31452a63d9d7455081c5346e84087eed2021-11-25T03:00:38ZFIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN0030-96482411-8842https://doaj.org/article/31452a63d9d7455081c5346e84087eed2021-10-01T00:00:00Zhttps://www.pafmj.org/index.php/PAFMJ/article/view/5930/3647https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Majeed 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.Qudrat Ullah MalikAsbah RahmanFarooq IkramMuhammad ShoaibUzma AkhlaqueMuhammad Tawab KhalilArmy Medical College Rawalpindiarticlemajeed syndromechronic recurrent multifocal osteomyelitis (crmo)lpin2 mutationinterleukin-6 (il-6)MedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 71, Iss 5, Pp 1903-1905 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	majeed syndrome chronic recurrent multifocal osteomyelitis (crmo) lpin2 mutation interleukin-6 (il-6) Medicine R Medicine (General) R5-920
spellingShingle	majeed syndrome chronic recurrent multifocal osteomyelitis (crmo) lpin2 mutation interleukin-6 (il-6) Medicine R Medicine (General) R5-920 Qudrat Ullah Malik Asbah Rahman Farooq Ikram Muhammad Shoaib Uzma Akhlaque Muhammad Tawab Khalil FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN
description	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.
format	article
author	Qudrat Ullah Malik Asbah Rahman Farooq Ikram Muhammad Shoaib Uzma Akhlaque Muhammad Tawab Khalil
author_facet	Qudrat Ullah Malik Asbah Rahman Farooq Ikram Muhammad Shoaib Uzma Akhlaque Muhammad Tawab Khalil
author_sort	Qudrat Ullah Malik
title	FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN
title_short	FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN
title_full	FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN
title_fullStr	FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN
title_full_unstemmed	FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN
title_sort	first reported case of majeed syndrome from pakistan
publisher	Army Medical College Rawalpindi
publishDate	2021
url	https://doaj.org/article/31452a63d9d7455081c5346e84087eed
work_keys_str_mv	AT qudratullahmalik firstreportedcaseofmajeedsyndromefrompakistan AT asbahrahman firstreportedcaseofmajeedsyndromefrompakistan AT farooqikram firstreportedcaseofmajeedsyndromefrompakistan AT muhammadshoaib firstreportedcaseofmajeedsyndromefrompakistan AT uzmaakhlaque firstreportedcaseofmajeedsyndromefrompakistan AT muhammadtawabkhalil firstreportedcaseofmajeedsyndromefrompakistan
_version_	1718414627075784704

FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN

Ejemplares similares