Aim: To determine that the aetiology of cord compression in mucopolysaccharidoses (MPS) type VI. To illustrate the variability of this complication of mucopolysaccharidoses even within families. To report the youngest MPS VI patient yet described with spinal cord compression and to present the technique and results of spinal stabilisation.

Method: The course, clinical findings and management of three patients with MPS VI and two with MPS IV were reviewed.

Results: The patients with MPS VI demonstrated that the pathogenesis of spinal cord compression in this condition is complex, with elements of joint instability, bony disease and soft tissue compression. Two of the patients with MPS VI are siblings: the younger sibling was 30 months old when she required surgery. She is the youngest reported patient with this complication of MPS VI. The patients with MPS IV are presented to illustrate similarities and differences in the pathogenesis of the same problem in the two disorders. Results of cervical spine stabilisation were found to be satisfactory.

Conclusions: In both MPS IV and MPS VI spinal cord compression may be multi-factorial. This complication of the mucopolysaccharidoses needs to be considered even when the patient is very young.

Children with a mucopolysaccharidosis or mucolipidosis suffer progressive disability of the hands, particularly in relation to dysfunction of the median nerve. This is an increasing problem because bone-marrow transplantation has dramatically improved survival without apparently changing the musculoskeletal manifestations. We have reviewed 48 children with these syndromes who required carpal tunnel decompression, recording symptoms, signs, radiological, electrophysiological and operative findings, histology and upper-limb function. In these children the carpal tunnel syndrome differs from that seen in adults. Symptoms are rare but signs such as decreased sweating, pulp atrophy, thenar wasting and manual clumsiness are much more common. At operation, the flexor retinaculum was thickened and a mass of white tenosynovium engulfed the flexor tendons. Most patients had some definite nerve constriction with a thickened epineurium.

Functional improvement was seen after early decompression, with some benefit from simultaneous tendon release. Regular physiotherapy helped to maintain increased hand movement.

We describe our assessment protocol, the physiotherapy and operative regime and the standard functional review which helps to maximise function in the hands and upper limbs of these children.

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders with clinical manifestations relevant to the orthopaedic surgeon. Our aim was to review the recent advances in their management and the implications for surgical practice.

The current literature about MPSs is summarised, emphasising orthopaedic complications and their management.

Recent advances in the diagnosis and management of MPSs include the recognition of slowly progressive, late presenting subtypes, developments in life-prolonging systemic treatment and potentially new indications for surgical treatment. The outcomes of surgery in these patients are not yet validated and some procedures have a high rate of complications which differ from those in patients who do not have a MPS.

The diagnosis of a MPS should be considered in adolescents or young adults with a previously unrecognised dysplasia of the hip. Surgeons treating patients with a MPS should report their experience and studies should include the assessment of function and quality of life to guide treatment.

Cite this article: Bone Joint J 2017;99-B:1132–9

The benefits of total hip arthroplasty (THA) may be significantly magnified in children, since the improvement in quality of life has a far greater exposure time and occurs during key developmental stages which may help to maximise lifetime achievement. The purpose of this study is to describe implant survival and patient reported outcomes (PROMS) in a cohort of children following THA. Retrospective cohort review of all patients treated with THA in a single centre. Routine data analysis did not require ethical approval. Survival was estimated using Kaplan-Meier and PROMs were recorded (EQ5D-S, Oxford hip score and modified Harris Hip Score) in a sub-group of patients. 66 hips in 47 patients with a median age of 16 years (range 10 to 19 years) underwent THA between 1971 and 2023. 57% (38/68) patients were female, the commonest indications were Mucopolysaccharidoses n = 15, Stills disease (n=15), and Avascular necrosis (n=12). 27 (41%) of constructs were cemented, 5 (8%) were hybrid, and 34 (51%) were cementless. 30 stems were custom made cementless stems. Median follow up was 3.8 years (range 0–34 years). Implant survival was 87% at 10 years, 61.6% at 20 years and 52.8% at 30 years. PROMS demonstrated mean preoperative OHS was 12, preoperative MHHS was 23 and EQ5Ds VAS of 38. PROMS improved steadily overtime with mean OHS of 43, MMHS of 75 and EQ5Ds VAS of 89 at one year. THA was associated with a very large change in patient reported hip function and quality of life. In this study, THA delivered a long-lasting solution to hip pain with survival similar to that seen in patients undergoing THA in the fourth and fifth decades of life. Socioeconomic benefits of THA need further investigation to establish treatment guidelines for children suffering with hip pain

Aims

Clinical and radiological data were reviewed for all patients with mucopolysaccharidoses (MPS) with thoracolumbar kyphosis managed non-operatively or operatively in our institution.

The management of joint replacement in lysosomal storage diseases has not been well reported. We present three patients with progressive degenerative changes of the hips who required bilateral total hip replacement in early childhood. The stature of the patients make it essential to have access to appropriately scaled prostheses. Consideration has to be given to associated disorders of the skeleton which must be carefully screened to ensure safety in providing appropriate anaesthesia as well as ensuring that there is no cardiac abnormality. In one patient, a periprosthetic fracture was sustained in one hip in the early post-operative course requiring internal fixation.

The patient made a full recovery and all six hips were clinically and radiologically satisfactory at mid-term review.