Unusual case of chronic recurrent multifocal osteomyelitis

Abstract

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare auto-inflammatory bone disorder that primarily affects young girls, with a mean age of 10 years at onset. Generally, it is a self-limited disease. However, recent data indicate that more than 50% of patients have a chronic persistent disease and about 20% a recurring course of this condition. Also, there are more cases reported with associated auto-inflammatory and autoimmune diseases. In this case report, we present a rare case of sporadic CRMO in which the patient eventually developed C-ANCA (cytoplasmic anti-neutrophil cytoplasmic antibodies)-associated renal vasculitis and hyperparathyroidism.

Case presentation: A 14 year old female patient was brought to the emergency department with a sudden onset of left leg pain and oedema. After physical evaluation and initial investigation, she was diagnosed with femoral and pelvic deep vein thrombosis. While searching for possible thrombosis causes, osteomyelitis of the left leg was identified. Additional CT and MRI scans hinted at the CRMO diagnosis. Due to the multifocal lesions of CRMO, endocrinological evaluation of calcium metabolism was done. The results showed signs of hyperparathyroidism with severe hypocalcaemia. Moreover, when kidney damage occurred and progressed, a kidney biopsy was performed, revealing a C-ANCA associated renal vasculitis. Treatment was started with cyclophosphamide and prednisolone according to the renal vasculitis management protocol. Severe metabolic disturbances and hyperparathyroidism were treated with alfacalcidol, calcium and magnesium supplements. Secondary glomerulonephritis (GN) associated hypertension was treated with ACE (angiotenzine converting enzyme) inhibitors. Anticoagulants were prescribed for deep vein thrombosis. After 1.5 years of treatment, the patient is free of complaints. All microelement and parathormone levels are within normal range. Kidney function is now normal. To date, there are no clinical or diagnostic signs of deep vein thrombosis.

Conclusions: This case report presents a complex immunodysregulatory disorder with both auto-inflammatory and autoimmune processes. We hypothesize that the long lasting active inflammation of CRMO may induce an autoimmune response and result in concomitant diseases like C-ANCA-associated vasculitis in our patient. Any potential specific pathogenic relationships between these two rare pathologies may need to be further studied. Furthermore, there is a lack of specific biomarkers for CRMO and more studies are necessary to identify CRMO's characteristic patterns and how to best monitor disease progression.

Keywords: Auto-inflammation; Autoimmune; C-ANCA; CRMO; GPA; Hyperparathyroidism; Paediatric; Renal vasculitis.

Fig. 1

X-ray of the legs.Hyperostosis on the left tibia metaphysis is indicated by a white arrow

Fig. 2

Whole-body CT (pelvis region) showing destruction and sclerosis of the left hip bones

Fig. 3

Histological image of kidney tissue. PAS-stained sample, 400× magnification. The crescentic glomeruli, stromal fibrosis, normal mesangial region are indicated by arrows

Fig. 4

Three-dimentional reconstruction CT of the left foot. The destruction and sclerosis of third metatarsus bone diaphysis and distal metaphysis parts are indicated by white arrows

Fig. 5

MRI of the patient‘s head. Measuring of hyperostosis of frontal bone on the right is shown by a white line

Fig. 6

MRI of the patient’s neck. Destruction and lipoid degeneration in the seventh neck vertebrae is indicated by a white arrow