We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.
- Authors
Girschick, Hermann J.; Mornet, Etienne; Beer, Meinrad; Warmuth-Metz, Monika; Schneider, Peter
- Abstract
Background: Hypophosphatasia (HP) is characterized by a genetic defect in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and predominantly an autosomal recessive trait. HP patients suffer from reduced bone mineralization. Biochemically, elevated concentrations of substrates of TNSALP, including pyridoxal-5'-phosphate and inorganic pyrophosphate occur in serum, tissues and urine. The latter has been associated with chronic inflammation and hyperprostaglandinism. Case presentation: We report on 2 affected children presenting with multifocal inflammatory bone lesions mimicking malignancy: A 6 years old girl with short stature had been treated with human growth hormone since 6 months. Then she started to complain about a painful swelling of her left cheek. MRI suggested a malignant bone lesion. Bone biopsy, however, revealed chronic inflammation. A bone scan showed a second rib lesion. Since biopsy was sterile, the descriptive diagnosis of chronic non-bacterial osteomyelitis (CNO) was established. The diagnostic tests related to growth failure were repeated and subsequent analyses demonstrated a molecular defect in the TNSALP gene. The second girl (10 years old) complained about back pain after she had fallen from her bike. X rays of her spine revealed compressions of 2 thoracic vertebrae. At first these were considered trauma related, however a bone scan did show an additional lesion in the right 4th rib. A biopsy of this rib revealed a sterile lympho- plasmocytoid osteomyelitis suggesting multifocal CNO. Further analyses did show a decreased TNSALP in leukocytes and elevated pyridoxal phosphate in plasma, suggesting a heterozygous carrier status of HP. Conclusion: Chronic bone oedema in adult HP and chronic hyper-prostaglandinism in childhood HP do suggest that in some HP patients bone inflammation is present in conjunction with the metabolic defect. Sterile multifocal osteomyelitis could be demonstrated. Non-steroidal antiinflammatory treatment achieved complete remission. These cases illustrate chronic inflammation of the bone as a new feature of HP.
- Subjects
OSTEOMYELITIS; BONE diseases; OSTEITIS; CHRONIC diseases; HYPOPHOSPHATASIA; PHOSPHORUS metabolism disorders; MEDICAL imaging systems
- Publication
BMC Pediatrics, 2007, Vol 7, p3
- ISSN
1471-2431
- Publication type
Article
- DOI
10.1186/1471-2431-7-3