The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

A new autosomal recessive syndrome of chronic recurrent multifocal osteomye litis (CRMO) and congenital dyserythropoietic anaemia (CDA) with microcytos is has recently been described in four children (two sibships) of one consa ngineous Arab family. In this report, we describe the clinical features and course of the syndrome of CRMO and CDA in two additional patients (one sib ship) from another consanguineous Arab family and review the literature. Th e two patients (brother and sister), the products of a consanguineous marri age, developed the syndrome at an early age of 3 weeks and 2 months respect ively. The diagnosis of CRMO was confirmed by radiological and technetium i sotope bone scans. Bone marrow studies confirmed the diagnosis of CDA. Peri pheral blood films showed hypochromia and microcytosis. The sites involved by CRMO were periarticular, mainly around the elbow, knee, wrist and small joints of the hand. The brother is now 21 years old and the sister 3.5 year s old and CRMO is still active with frequent relapses. The brother develope d flexion deformities at the age of 13 years. Both patients failed to thriv e; weight and height were below the 5th percentile. Conclusion: this is the second report of the syndrome of chronic recurrent multifocal osteomyeliti s and microcytic congenital dyserythropoietic anaemia, confirming it as a c linical entity, inherited as an autosomal recessive trait. The disease is c haracterised by an early onset, long clinical course of remissions and rela pses, and seems to be different from the sporadic form of chronic recurrent multifocal osteomyelitis.