Journal article
The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review
European journal of pediatrics, Vol.160(12), pp.705-710
2001
DOI: 10.1007/s004310100799
PMID: 11795677
Abstract
A new autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anaemia (CDA) with microcytosis has recently been described in four children (two sibships) of one consangineous Arab family. In this report, we describe the clinical features and course of the syndrome of CRMO and CDA in two additional patients (one sibship) from another consanguineous Arab family and review the literature. The two patients (brother and sister), the products of a consanguineous marriage, developed the syndrome at an early age of 3 weeks and 2 months respectively. The diagnosis of CRMO was confirmed by radiological and technetium isotope bone scans. Bone marrow studies confirmed the diagnosis of CDA. Peripheral 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 years old and CRMO is still active with frequent relapses. The brother developed flexion deformities at the age of 13 years. Both patients failed to thrive; weight and height were below the 5th percentile.
Conclusion: This is the second report of the syndrome of chronic recurrent multifocal osteomyelitis and microcytic congenital dyserythropoietic anaemia, confirming it as a clinical entity, inherited as an autosomal recessive trait. The disease is characterised by an early onset, long clinical course of remissions and relapses, and seems to be different from the sporadic form of chronic recurrent multifocal osteomyelitis.
Details
- Title: Subtitle
- The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review
- Creators
- Hasan A MAJEED - Department of Paediatrics, University of Jordan, Amman, JordanMosleh AL-TARAWNA - Division of Haematology, Department of Pathology, University of Jordan, Amman, JordanHatem EL-SHANTI - Department of Pediatrics, Jordan University of Science and Technology, Irbid, JordanBasem KAMEL - Al-Basheer Hospital, Ministry of Public Health, Amman, JordanFatma AL-KHALAILEH - Division of Haematology, Department of Pathology, University of Jordan, Amman, Jordan
- Resource Type
- Journal article
- Publication Details
- European journal of pediatrics, Vol.160(12), pp.705-710
- Publisher
- Springer
- DOI
- 10.1007/s004310100799
- PMID
- 11795677
- ISSN
- 0340-6199
- eISSN
- 1432-1076
- Language
- English
- Date published
- 2001
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093486602771
Metrics
23 Record Views