EU_Musc_Manger.qxp 1/5/08 11:35 Page 24
Mucopolysaccharidosis Type I
Figure 3: Five Most Common Symptoms and Median Age at Onset
commonly MPS, with 95 cases.
12
Among the non-genetic causes of
of Symptoms in Patients with Mucopolysaccharidosis Type I
9
CTS in children, intensive sports practice, fibrolipomatous hamartoma
and trauma, most often related to epiphysiolysis of the distal radius,
Coarse facial features n=298 (94%)
have been described.
12
Hernia n=237 (75%)
Hurler Kyphosis n=259 (81%)
Common Misdiagnoses
Hepatomegaly n=265 (83%)
In a recent market survey conducted in Canada, France, Germany, Italy,
Corneal clouding n=279 (88%)
Spain and the UK, rheumatologists treating adults and children were
Hernia n=100 (73%)
provided with descriptions of an eight- or 23-year-old patient with
Coarse facial features n=114 (83%)
c
heie musculoskeletal symptoms of MPS I and asked about the diagnoses
-S
Joint contractures n=99 (72%)
they might consider for such a patient. The case presented was
Hurler
Hepatomegaly n=111 (81%)
described as a female patient with slowly progressive stiffness of the
Corneal clouding n=115 (84%)
joints, particularly in the hands and fingers, and impaired fine motor
Hernia n=41 (65%)
skills (difficulty writing), but no clinical signs orbiochemical markers of
Joint contractures n=51 (81%) inflammation. Further details were a negative rheumatoid factor and
Corneal clouding n=54 (86%) the clinical picture being non-responsive to steroid therapy. A bilateral
S
c
heie
Valve abnormalities n=55 (87%) limited range of motion in her shoulders (e.g. difficulty putting on a
Carpal tunnel n=39 (62%) jacket) was added to the description of the adult patient.
02468 10 12 14
Median age at first symptoms (years) The most common misdiagnoses from this survey are presented in
Table 1. Case reports and patient series reported in the literature also
Other paediatric rheumatological diseases with contractures of the hand show that MPS I patients had previously been given diagnoses of juvenile
are juvenile dermatomyositis, juvenile mixed connective tissue disease idiopathic arthritis (JIA), scleroderma, muscular dystrophy, Legg–Perthes
(MCTD), fibromatosis, Blau syndrome, sarcoidosis, camptodactyly- disease, osteogenesis imperfecta, growing pains, dermato-/polymyositis
arthropathy-coxa vara-pericarditis (CACP) syndrome and progressive or rheumatic fever.
pseudo-rheumatoid arthropathy of childhood (PPAC) syndrome. In adults,
inflammatory joint diseases (RA, spondyloarthritis), osteoarthritis, JIA, a chronic inflammatory disease of the joints and extra-articular tissue,
fibromatosis (Duypuytren´s contracture) or post-traumatic situations are is characterised by juvenile onset (below 16 years of age), persistent
common causes. Amyloidosis, an acquired storage disease, represents a arthritis with swelling within a joint or limitation in the range of
rare cause of joint contracture in adults. movement with pain or tenderness in the affected joints.
15
In attenuated
MPS I, arthritis is non-inflammatory; in contrast to JIA there are no signs
Carpal Tunnel Syndrome in Mucopolysaccharidosis of local inflammation and symptoms do not improve on treatment with
Type I versus Other Rheumatological Diseases NSAIDs or steroids. Also, while patients with JIA may suffer from typical
Carpal tunnel syndrome (CTS) develops when the median nerve is morning stiffness, in MPS I it is enduring and associated with progressive
compressed at the wrist, producing dysaesthesias and the symptom joint contractures.
of pins and needles. In MPS I, CTS can probably be explained by a
combination of excessive lysosomal storage in the connective tissue of Scleroderma or systemic sclerosis (SSc) is a systemic connective tissue
the flexor retinaculum and the distorted anatomy due to the bone disease and patients may present with joint symptoms (pain, limitation
dysplasia.
12
It is a common feature of Scheie-type MPS I, observed of movement, swelling). Based on the American College of
especially in patients diagnosed after two years of age.
7
In an Rheumatology (ACR) criteria, diagnosis of SSc always requires
updated MPS I registry report on 585 patients,
9
62% of the evidence for the major criterion of scleroderma proximal to the
Scheie patients had been diagnosed with CTS, first observed at a metacarpophalangeal joints or two out of the three minor criteria:
median age of 12–13 years. In young patients affected by MPS I, CTS
may be asymptomatic when expected symptoms are masked by the
effects of skeletal dysplasia and joint stiffness. However, parents may
notice their children finding fine motor tasks such as handling a pen
increasingly difficult.
13
Cartilage is a major site of pathology in
all MPS, leading to painful joints and
With a prevalence of approximately 0.2–1%, CTS is common in the
poor joint mobility and bone growth.
adult population, especially in people holding jobs that require highly
repetitive wrist movements, working with vibrating tools or awkward
wrist positions. Diabetes, pregnancy, wrist arthritis and tenosynovitis
are common medical conditions associated with CTS.
14
Less frequent
causes of CTS in adults are hypothyroidism, acromegaly, joint sclerodactyly, digital pitting scar/substance loss or bilateral basal
infections, crystal deposition diseases and amyloidosis. In contrast, CTS pulmonary fibrosis. In order to diagnose early mild forms of SSc,
in childhood is a rare condition. In a review discussing 52 cases additional criteria have recently been suggested: Raynaud’s
published before 1989, and an additional 163 cases published since phenomenon – a common and early phenomenon in SSc – and both
then, the majority of cases were related to a genetic defect – most nailfold capillary abnormalities and SSc-specific antibodies.
16
None of
24 EUROPEAN MUSCULOSKELETAL REVIEW
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