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:
Clinical and radiological data were reviewed for all patients
with mucopolysaccharidoses (MPS) with thoracolumbar kyphosis managed
non-operatively or operatively in our institution. In all 16 patients were included (eight female: eight male; 50%
male), of whom nine had Hurler, five Morquio and two Hunter syndrome.
Six patients were treated non-operatively (mean age at presentation
of 6.3 years; 0.4 to 12.9); mean kyphotic progression +1.5o/year;
mean follow-up of 3.1 years (1 to 5.1) and ten patients operatively (mean
age at presentation of 4.7 years; 0.9 to 14.4); mean kyphotic progression
10.8o/year; mean follow-up of 8.2 years; 4.8 to 11.8)
by circumferential arthrodesis with posterior instrumentation in
patients with flexible deformities (n = 6).Aims
Methods
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.
