Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

Majeed Syndrome

“…More than 90% presented with joint or limb pain, and most of those had objective swelling in the joints near the bone lesions. However, two individuals did not have any bone or joint symptoms to prompt MRI imaging (Liu et al 2019;Roy et al 2019). The bone lesions were present in the long bones in all children in cases that had imaging performed.…”

“…The anemia is of variable severity ranging from transfusion dependent to mild with minimal symptoms. All 15 of the patients who underwent bone marrow biopsy had dyserythropoiesis seen on pathologic evaluation of the marrow (Majeed et al 1989;Al-Mosawi et al 2007;Herlin et al 2013;Rao et al 2016;Moussa et al 2016;Liu et al 2019;Roy et al 2019). All six of the children reported by Dr. Majeed et al required one or more red blood cell transfusions with one patient reported to be transfusion dependent (Majeed et al 1989).…”

“…The age of onset of CRMO was younger than in nonsyndromic forms of the disease with nearly all presenting prior to the second birthday (reported ages range 0.75 to 96 months). Recent reports suggest that penetrance may be incomplete (Roy et al 2019).…”

“…The proband had typical Majeed syndrome (see below). The two younger brothers subsequently developed CRMO, high inflammatory markers, and chronic microcytic anemia (Roy et al 2019).…”

“…Majeed syndrome is an autosomal recessive syndrome recognized by Dr. Hasan Majeed in three children, from two consanguineous families, affected with multifocal sterile osteomyelitis and congenital dyserythropoietic anemia; two from one family also had neutrophilic dermatosis (Sweet syndrome) (Majeed et al 1989). It is an exceedingly rare disorder with 20 cases from 9 families reported in the literature since its initial description in 1989 (Majeed et al 1989(Majeed et al , 2000(Majeed et al , 2001Al-Mosawi et al 2007;Herlin et al 2013;Rao et al 2016; Pinto-Fernandez and Seoane-Reula 2017; Moussa et al 2016;Liu et al 2019;Roy et al 2019).…”