Aims

Osteopetrosis (OP) is a rare hereditary disease that causes reduced bone resorption and increased bone density as a result of osteoclastic function defect. Our aim is to review the difficulties, mid-term follow-up results, and literature encountered during the treatment of OP.

We have reviewed 22 patients at a mean of 30 years (28 to 31) after a whiplash injury. A complete recovery had been made in ten (45.5%) while one continued to describe severe symptoms. Persistent disability was associated with psychological distress but both improved in the period between 15 and 30 years after injury. After 30 years, ten patients (45.5%) were more disabled by knee than by neck pain.

We have reviewed our experience in managing 11 patients who sustained an indirect sternal fracture in combination with an upper thoracic spinal injury between 2003 and 2006. These fractures have previously been described as ‘associated’ fractures, but since the upper thorax is an anatomical entity composed of the upper thoracic spine, ribs and sternum joined together, we feel that the term ‘fractures of the upper transthoracic cage’ is a better description. These injuries are a challenge because they are unusual and easily overlooked. They require a systematic clinical and radiological examination to identify both lesions. This high-energy trauma gives severe devastating concomitant injuries and CT with contrast and reconstruction is essential after resuscitation to confirm the presence of all the lesions. The injury level occurs principally at T4–T5 and at the manubriosternal joint. These unstable fractures need early posterior stabilisation and fusion or, if treated conservatively, a very close follow-up.

We invited 1604 randomly selected women, all 75 years of age, to participate in a study on the risk factors for fracture. The women were divided into three groups consisting of 1044 (65%) who attended the complete study, 308 (19%) respondents to the study questionnaire only and 252 (16%) who did not respond. The occurrence of the life-time fracture was ascertained from radiological records in all groups and by questionnaires from the attendees and respondents.

According to the radiological records, fewer of the questionnaire respondents (88 of 308, 28.6%) and non-respondents (68 of 252, 27%) had sustained at least one fracture when compared with the attendees (435 of 1044, 41.7%; chi-squared test, p < 0.001). According to the questionnaire, fewer of the respondents (96 of 308, 31.1%) had sustained at least one previous fracture when compared with the attendees (457 of 1044, 43.7%; chi-squared test, p < 0.001).

Any study concerning the risk of fracture may attract those with experience of a fracture which explains the higher previous life-time incidence among the attendees. This factor may cause bias in epidemiological studies.

We reviewed 78 femoral and tibial nonunions treated between January 1992 and December 2003. Of these, we classified 41 in 40 patients as complex cases because of infection (22), bone loss (6) or failed previous surgery (13). The complex cases were all treated with Ilizarov frames. At a mean time of 14.1 months (4 to 38), 39 had healed successfully.

Using the Association for the Study and Application of the Methods of Ilizarov scoring system we obtained 17 excellent, 14 good, four fair and six poor bone results. The functional results were excellent in 14 patients, good in 14, fair in two and poor in two. A total of six patients were lost to follow-up and two had amputations so were not evaluated for final functional assessment. All but two patients were very satisfied with the results. The average cost of treatment to the treating hospital was approximately £30 000 per patient.

We suggest that early referral to a tertiary centre could reduce the morbidity and prolonged time off work for these patients. The results justify the expense, but the National Health Service needs to make financial provision for the reconstruction of this type of complex nonunion.