Purpose

The authors have used the Edinburgh Visual Gait Score (VGS) in the management of diplegic cerebral palsy patients treated with Botulinum toxoid injections into their hamstrings muscles. Video-filmed gait episodes were recorded before and after Botox injections over a treatment period of 6 years from 2007 to 2012.

Three or more years after completion of treatment, we re-examined 16 patients with orthopaedic problems associated with neurofibromatosis I (NF-I) who were treated at our institution between 1976 and 1999. Seven boys and five girls between the ages of 5 and 15 years presented with congenital pseudarthrosis of the tibia (CPT). All had undergone previous surgery elsewhere.

The patients had typical skin lesions and the associated radiological appearances of pseudarthrosis of the tibia. There were two cystic types of CPT, five hourglass and five normotrophic types, mostly at the level of the distal third of the tibia. Primary consolidation of the CPT was not obtained in any patient. Three patients underwent below-knee amputation after multiple surgical procedures. Eight had consolidations of the pseudarthrosis after multiple operations, but all had residual deformities and/or shortening. One patient remained with a non-consolidation. The surgical procedures included intramedullary rodding with or without bone grafting, fibular bypass grafting, Soffield turn-about rodding, electrical stimulation, and, in patients seen since 1989, various Ilizarov techniques including lengthening and bone transport.

Our results suggest that the best treatment of this perplexing paediatric orthopaedic problem remains undetermined. Considerations for the selection of treatment include the pathologic anatomic pattern of NF-I and the patient’s age and expectations. A National Orthopaedic Neurofibromatosis Register will be useful in the decision-making process.

Twenty-five years ago, Prof. Peter H. Beighton, our association’s geneticist, presented a paper reminding us that more than 2 000 genetic diseases and disorders have been identified. Many of the conditions are apparently confined to one particular geographical locality or ethnic group. A large proportion of genetic diseases and disorders has skeletal manifestations.

The Little People of South Africa (Association of Persons with Restricted Growth) have needed advice about the management of orthopaedic complications such as spinal problems in achondroplasia, axial deviations of the lower limbs, and in particular the possibilities of limb lengthening in disproportionate skeletal dysplasias.

From the story of a young achondroplastic woman who suffered from low back pain and was offered an operation by a neurosurgeon, there stemmed a media-driven report on dwarfs in the Land of Legends near Tzaneen, an epidemiological field study on achondroplasia in the Northern Province, and a combined round table consultation between a team of orthopaedic surgeons and a pair of Pedi sangomas.

In the village was an index group of three Pedi women and one man who were diagnosed with probable acrome-somelic dysplasia (Grebe), a form of achondrogenesis. The oldest woman and the man were brother and sister, and the two younger women their daughters by spouses of normal stature. While their heads and faces were normal and their spines straight, their dysmorphic features included shortness of stature (mean height 94 cm), disproportionate limb length and ligamentous laxity. The little man’s late father was also a dwarf, as was one of his eight brothers: there were thus six dwarfs in a direct line in three generations. The dwarf man and woman were both sangomas, as their father had been.

None of them had low back pain, but they knew how to cure it.

We conducted a long-term follow-up study to determine the functional status and level of social integration of 67 children with myelomeningocele. All of them attended a Spinal Defect Clinic for at least four years between 1968 and 1979, and all attended a Rehabilitation School for at least four years, either as day scholars or as boarders. An analysis of their functional walking abilities was presented at the congress in 1979.

Hospital and school records were obtained, and patients were asked to complete a questionnaire about their marital status, children, employment and educational status. Further questions asked about change in ambulatory status, sphincter status, urinary tract problems, numbers and types of operations performed after 1979, and whether they were satisfied with the results.

We traced 55 of the 67. There had been 12 deaths, most as result of urosepsis. Many patients had moved from the area. Many were in homes or living secluded lives and unwilling to get involved. Many patients had undergone more surgery, particularly amputation of the feet or legs. After leaving the Rehabilitation School, many patients became wheelchair-bound: these were extremely unhappy and felt they had been misled by the promise that they would continue to walk. All were over-weight.

The 10 patients who had spinal surgery were delighted with the result. Many were happy with the medical management and education they had received in childhood, and felt privileged to have their support systems. Many were gainfully employed and married with children.

The long-term follow-up study revealed that in adulthood the order of priorities of these patients remained the same as in childhood and adolescence. Most important was communication, then activities of daily living. Transportation and ambulation were secondary issues.

We looked at the outcome of management of 16 patients (19 limb segments) with congenital fibular hemimelia treated in our unit over a 24-year period from 1978 to 2001. Eight boys and eight girls, all with associated musculoskeletal abnormalities in the lower limbs, were presented for management at or before the age of six months.

On four patients no surgery was performed. In the other 12, orthopaedic management was completed during the skeletal growth period. Primary amputations (one below-knee, one Syme and one Boyd) were performed on three patients and prostheses fitted in early childhood. Three patients with bilateral fibular hemimelia were treated initially with a Gruca ankle reconstruction procedure. Using the Ilizarov technique, we performed tibial lengthening procedures on nine patients.

At the latest follow-up, the three patients who had amputations were functioning well and had no complications. The nine patients in whom tibial lengthening was the main reconstructive procedure suffered numerous complications and all needed further corrective surgery or footwear alterations. None required or requested late amputation because of poor function or cosmesis. Analysing results by parameters such as restriction of activity, pain, complication rate, treatment costs, hospital and clinic visits, periods of absence from school, and patient satisfaction, we found notably better results among patients who underwent early primary amputation than among those who underwent tibial lengthening.

This needs to be kept in mind when advising parents of the most appropriate course of management of their child’s disorder.

A nine-year-old girl presented with a four-year history of progressive bowing of the left tibia. She had been seen in our clinic three and four years earlier, when no treatment was advised. She had been complaining of mild pain in the left leg for one month but was otherwise not very perturbed about her deformed leg.

Examination showed bowing of the left tibia, no leg length discrepancy, no limp, and a normal left knee and ankle. Radiological examination showed features of osteo-fibrous dysplasia of the left tibia, with eccentric expansion of the cortex, intracortical osteolysis, marginal sclerosis encroaching on the medulla and diffuse lesional calcification. No other bones were involved.

Because of the progressive bowing of the tibia and the mild pain, the recommended loose observation of the patient was abandoned. Daily treatment with 30 mg IVI pamidronate for three days resolved the pain. One month after the latest presentation the lesion was biopsied. Histological examination confirmed the diagnosis of osteofibrous dysplasia of the tibia. There was no evidence of adamantinoma.

The literature on this rare bone lesion in childhood supports the use of open biopsy if the deformity becomes painful, the bowing is progressive and the patient presents after the age of nine years. Important differential diagnoses include fibrous dysplasia and adamantinoma.

In this outcome-based study, we reviewed the results of the modified Woodward procedure performed on 10 patients over the last 15 years in our unit. The indication for surgery was a unilateral Sprengel’s deformity, Cavendish grade II or III, in children aged 3 to 6 years. Follow-up times ranged from 1 to 15 years. The patients were assessed according to patient and relatives’ satisfaction, cosmesis and functional results.

The modified Woodward procedure entailed a midline longitudinal incision over the spinous processes from C1 to T8. The origins of the trapezius and rhomboids were released from the spinous processes, the scapula lowered and derotated, the superomedial portion of the scapula resected and the trapezius and rhomboids reattached two vertebral levels lower. The clavicle was not osteotomised in any patient. A Velpeau sling was used for four weeks, after which physiotherapy was started.

There were no brachial plexus complications. There were two cases of winging of the scapulae. One patient had a cosmetically ugly scar. Our results showed a cosmetic improvement by an average of one grade and a mean functional improvement of 30° of abduction and flexion. Those patients where an omovertebral body was found and resected had the best cosmetic and functional results. All the patients were satisfied with their operations.

We feel that the pessimism regarding surgical results is unwarranted.