Bone Abstracts

Background: In pathological conditions the osteolysis is defined as a process of dissolution or degeneration of bone tissue due to abnormal bone resorbtion. It is rare in childhood and the diagnosis and the management is always a challenge.

Presenting problem: We present a 10-year-old boy with multiple osteolytic lesions discovered initially when he was 2 years of age because of leg length discrepancy and waddling gait. The lesions are located predominantly in the diaphyseal regions of the long bones, the pelvis and the basis of the skull. They have well-defined borders, with no periosteal reaction and show slow, but progressive evolution. The child experienced two pathological fractures in the affected zone of his distal right femur. A moderate congenital deformity of the head comprised of a hypoplastic mandibulae, small mouth and crowded teeth is also present and multiple orthodontic interventions have been done till now. The patient suffers from frequent ENT infections, difficult breathing and recurrent nose bleeding with unclear etiology. Bone histology shows fibrous changes, but on bone scintigraphy scans there are no pathological accumulations. Interestinly, whole-body densitometric measurements are in the referent limits. There are no physical signs of any skin, hematologic, endocrine or other systemic involvement, too. In 2013, because of an increasing neck pain and weakness in the left limbs, several crushed cervical vertebrae (C3–C6) with narrowing of the spinal canal were found.

Clinical management: Two neurosurgical interventions were performed including vertebroplasty and occipito-spinodesis. A bisphosphonate therapy has been commenced, too.

Discussion: The patient presents with multiple polyosteotic osteolytic lesions with aggressive evolution. In the differential diagnosis except Fibrous dyplasia (McCune–Albright syndrome) as a leading working diagnosis, neurofibromatosis type 1 (von Rekclinghausen’s disease), Gorham–Stout syndrome (generalized lymphangiomatosis) and many others were discussed. For most of them, the genetic background and the underlying molecular pathoethiologic mechanisms are already well-known but treatment options still remain quite limited.