Radiographic Findings of Mucopolysaccharidosis and Comparison with Bone Mineral Density: A Study from Southeastern Turkey.

INTRODUCTION: The first aim of this study is to define the severity of radiologic features according to mucopolysaccharidosis (MPS) type. The second aim is to compare spine radiographs with dual-energy X-ray absorptiometry (DXA) scores. METHODOLOGY: A total of 64 MPS children were enrolled between January 2017 and March 2021. Patients with a history of surgery, fracture or improper radiographs were excluded. Finally, 48 cases (20 MPS VI, 12 MPS IVA, 7 MPS IIIA, 4 MPS IIIB, 3 MPS II, 2 MPS I) were yielded. Among them, 38 had DXA performed in the same week with radiographs. Demographic and radiographic features and the hip acetabular index were noted. T12-L5 vertebral body heights were measured from lateral spine radiographs and divided by patient height. DXA measurements, bone mineral density and Z-scores were also recorded. RESULTS: Spine and hip findings were most frequently seen in MPS VI and IVA. Oar-shaped ribs were more common in MPS VI, whereas anteromedial beaking of vertebra was predominantly seen in MPS IVA. Femoral head dysplasia is most common in MPS IVA, VI and I. The highest mean acetabular was observed in MPS I. The mean Z-score of L1-L4 vertebrae was low for MPS I (-3.8), IVA (-3.79) and VI (-3.73), but normal for MPS II (0.6) and IIIA (0.23). Correlation between the Z-score and vertebral index was highest in the L1 vertebral body. CONCLUSION: Interpreting the characteristic radiographic features of different MPS types is important. In addition to dysostosis multiplex, quantitative measurements from radiographs may be beneficial in evaluating disease progression.

Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: an echocardiographic study.

Mucopolysaccharidoses, a rare inherited disorder of lysosomal storage, account for less than 0.1% of all genetic diseases.  The penetrance is highly variable and clinically it varies from severe fetal-neonatal forms to attenuated diseases diagnosed in adult individuals. The majority of the patients have been reported to show cardiac abnormalities since pediatric age, however, there is a minority of patients with attenuated disease diagnosed in the adolescent and adult age. The haematopoietic stem cell transplantation and enzyme replacement therapy are the current therapies for these disorders. Thanks to these treatments, Mucopolysaccharidoses patients live longer than in the past. Even though enzyme replacement therapy has been demonstrated to reduce left ventricular mass in patients with cardiomyopathy, the efficacy on valve abnormalities has not been clearly demonstrate yet. Furthermore, thanks to the current therapy, to better understanding and to the advent on new technologies, an increasing number of adolescent and adult patients diagnosed with MPS are followed up in the adult echocardiographic laboratory. Indeed, a systematic descriptive study describing the echocardiographic features of valvular involvement and their evolution in adolescent and adult patients lacks of medical literature and this was the aim of our investigation. Our results showed that all the valves are affected, mainly the mitral valve with a higher prevalence compared to the pediatric age.  The echocardiographic features of MPS differs from other valvular disease of adolescent and adult age, and knowing them can avoid misdiagnosis. Our observations also suggest that the progression of cardiac involvement slows after the initiation of the therapy in our group of age. Further studies on larger population are required to confirm our results.

Dental and maxillomandibular incidental findings in panoramic radiography among individuals with mucopolysaccharidosis: a cross-sectional study.

Mucopolysaccharidosis (MPS) is a group of rare and inherited metabolic disorders caused by the accumulation of macromolecule glycosaminoglycans inside lysosomes. Affected individuals may have dental and craniofacial tissue alterations, facilitating the development of several oral diseases. OBJECTIVES: To assess, with panoramic radiographic images, the frequency of dental and maxillomandibular incidental findings among MPS individuals and compare them with non-MPS individuals. METHODOLOGY: A cross-sectional study evaluating a sample of 14 MPS individuals and 28 non-MPS individuals aged from 5 to 26 years was carried out. They were matched for sex and age on a 2:1 proportion. Panoramic radiographs were assessed for the presence/absence of the following dental and maxillomandibular alterations: dental anomalies of number (hypodontia/dental agenesis, supernumerary teeth); anomalies of form (microdontia, macrodontia, conoid teeth, taurodontism, and root dilaceration); anomalies of position (impacted tooth, inverted tooth, tooth migration, partially bony teeth, complete bony teeth); periapical alterations (furcation lesion, circumscribed bone rarefaction); other alterations (radiolucent bone lesions, radiopaque bone lesions, radiopacity in the maxillary sinus, condylar hypoplasia). Differences between groups were tested by the Fisher's exact test and chi-square test (p<0.05). RESULTS: For intrarater agreement, Kappa values were 0.76 to 0.85. The presence of supernumerary teeth (p=0.003); conoid teeth (p=0.009); taurodontism (p<0.001); impacted teeth (p<0.001); partial bony teeth (p=0.040); complete bony teeth (p=0.013); and root dilaceration (p=0.047) were statistically more frequent in MPS individuals compared to non-MPS individuals. Bone rarefaction/furcation lesions (p=0.032), condylar hypoplasia (p<0.001), radiolucent bone lesions (p=0.001), and dentigerous cysts (p=0.002) were also more frequent in MPS individuals. CONCLUSION: The presence of specific oral manifestations is more common in MPS individuals than non-MPS individuals.

Hip pathologies in mucopolysaccharidosis type III.

BACKGROUND: Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III patients. The purpose of this study was to describe hip pathologies and influencing parameters in MPS III patients. METHODS: A retrospective chart review was performed for 101 MPS III patients. Thirty-two patients met the inclusion criteria of enzymatically or genetically confirmed diagnosis and anteroposterior radiograph of the hips. Modified Ficat classification, Wiberg's center-edge angle, and Reimer's migration percentage were measured. RESULTS: The mean age at data assessment was 11.0 years (SD 5.7). Osteonecrosis of the femoral head was observed in 17/32 patients. No statistically significant association was found between these changes and age, sex, or MPS III subtype. Patients with a severe phenotype showed significantly higher rates of osteonecrosis (14/17) than patients with an intermediate phenotype. Hip dysplasia was present in 9/32 patients and was significantly associated with osteonecrosis of the femoral head (p = 0.04). CONCLUSIONS: The present study demonstrates a high rate of hip pathologies in MPS III patients. Hip dysplasia and severe phenotype were significantly correlated with osteonecrosis of the femoral head. Therefore, radiographs of the hips are highly recommended in baseline and follow-up assessments of MPS III patients. TRIAL REGISTRATION: Retrospectively registered.

Dental and maxillomandibular incidental findings in panoramic radiography among individuals with mucopolysaccharidosis: a cross-sectional study

Abstract Mucopolysaccharidosis (MPS) is a group of rare and inherited metabolic disorders caused by the accumulation of macromolecule glycosaminoglycans inside lysosomes. Affected individuals may have dental and craniofacial tissue alterations, facilitating the development of several oral diseases. Objectives To assess, with panoramic radiographic images, the frequency of dental and maxillomandibular incidental findings among MPS individuals and compare them with non-MPS individuals. Methodology A cross-sectional study evaluating a sample of 14 MPS individuals and 28 non-MPS individuals aged from 5 to 26 years was carried out. They were matched for sex and age on a 2:1 proportion. Panoramic radiographs were assessed for the presence/absence of the following dental and maxillomandibular alterations: dental anomalies of number (hypodontia/dental agenesis, supernumerary teeth); anomalies of form (microdontia, macrodontia, conoid teeth, taurodontism, and root dilaceration); anomalies of position (impacted tooth, inverted tooth, tooth migration, partially bony teeth, complete bony teeth); periapical alterations (furcation lesion, circumscribed bone rarefaction); other alterations (radiolucent bone lesions, radiopaque bone lesions, radiopacity in the maxillary sinus, condylar hypoplasia). Differences between groups were tested by the Fisher's exact test and chi-square test (p<0.05). Results For intrarater agreement, Kappa values were 0.76 to 0.85. The presence of supernumerary teeth (p=0.003); conoid teeth (p=0.009); taurodontism (p<0.001); impacted teeth (p<0.001); partial bony teeth (p=0.040); complete bony teeth (p=0.013); and root dilaceration (p=0.047) were statistically more frequent in MPS individuals compared to non-MPS individuals. Bone rarefaction/furcation lesions (p=0.032), condylar hypoplasia (p<0.001), radiolucent bone lesions (p=0.001), and dentigerous cysts (p=0.002) were also more frequent in MPS individuals. Conclusion The presence of specific oral manifestations is more common in MPS individuals than non-MPS individuals.

Imaging features of mucopolysaccharidoses in the head and neck.

Ear, Nose and Throat (ENT) involvement by mucopolysaccharidoses is very common, affecting over 90% of patients, and occurs early in the course of the disease. Airway narrowing secondary to glycosaminoglycan deposition results in greatly increased morbidity, mortality and risk of anesthetic complications in these patients. Macroglossia, restricted mouth opening, tracheobronchomalacia, adenotonsillar hypertrophy along with other factors such as a short, rigid and unstable cervical spine, cardiac disease and increased susceptibility to respiratory infections result in a high perioperative mortality and morbidity. Imaging is most beneficial for evaluation of the airway, in particular in patients with obstructive symptoms and prior to intubation. We review the ENT manifestations of mucopolysaccharidoses including airway involvement, otological, oral and dental complications. 3-D reconstructions of the trachea, which is routinely captured on CT imaging of the spine, can be of great value for planning intubation in this patient population.

Spine challenges in mucopolysaccharidosis.

PURPOSE: Mucopolysaccharidosis (MPS) are rare inherited metabolic diseases, causing lysosomal storage of mucopolysaccharides; clinical presentation involves skeletal system and particularly the spine. Anomalies include developing kyphosis at thoracolumbar junction, that can causes nervous symptoms, and dens hypoplasia with associated atlantoaxial subluxation that can cause myelopathy. We present our experience in the treatment of spine pathology in MPS. METHODS: Medical treatments of MPS seem to have little impact on spine disease: treatment of cervical instability often includes surgical decompression and stabilization, as in patient MPS1 that we present, while thoracic lumbar kyphosis is treated by bracing and, in severe cases, with surgery. Bracing is more effective in kyphosis under 40° Cobb. Our surgical cases with thoracic lumbar kyphosis over 40° Cobb, treatment include the first one ever described by only posterior approach with vertebrectomy in MPS and a case of lateral costo-transverse approach instrumented correction. RESULTS: Surgical patients had no major complications after surgery and CT scan at follow-up showed complete fusion without loss of correction, even if in a cervical case we used an adult rigid instrumentation in a four year-and-six month-old girl (11 years follow-up) and in thoracic lumbar kyphosis case treated by vertebrectomy due to diminutive anatomy we positioned interbody cage in suboptimal position. CONCLUSIONS: Bracing is a viable treatment strategy in thoracic lumbar kyphosis and can obtain good clinical results at medium terms follow-up even if kyphosis deformity remains in radiographs. Surgical treatment is effective in severe evolving cases both at cervical and thoracic lumbar level, main difficulties arose from unavailability of dedicated instrumentation in very young patient, as even smallest devices available are often too big.

A doença laríngea, traqueal e brônquica nas mucupolissacaridoses: estudo endoscópico / Laryngeal, tracheal and bronchial disease in mucupolysaccharidosis: an endoscopic study

As mucopolissacaridoses (MPS) são doenças geneticamente determinadas, originadas da deficiência de enzimas que degradam glicosaminoglicanos (GAG); a não degradação destas substâncias gera o acúmulo das mesmas no tecido conjuntivo em vários órgãos e sistemas do organismo, inclusive na laringe, traquéia e brônquios.Os sintomas respiratórios são consequentemente comuns nestes pacientes, podendo ser o primeiro sintoma descrito e infelizmente a doença respiratória causa frequente de óbito. A laringe pode ser acometida notadamente em topografia supraglótica e a árvore traqueobrônquica pode se mostrar estreita, tortuosa, obstruída por acúmulo de GAG e invariavelmente com traqueobroncomalácia associada. A broncoscopia flexível (BF) é o método semiótico de escolha para diagnóstico de tais alterações, além de facilitar a intubação nas cirurgias sob anestesia geral destes pacientes, considerados como pertencentes ao grupo da "via aérea difícil". Foi realizado um estudo transversal, tendo como metodologia a revisão dos prontuários e das BF dos pacientes acompanhados no Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) sem restrições quanto à idade, aos subtipos da doença ou ao fato de estarem ou não sob tratamento específico; foram excluídos da análise relacionada a doença laríngea , traqueal e brônquica( DLTB) aqueles pacientes submetidos precocemente ao transplante de células-tronco hematopoiéticas(TCTH) antes da manifestação mais evidente de características clínicas da doença. Este trabalho teve como objetivo principal a avaliação da DLTB dos pacientes com diagnóstico de MPS através da BF. Os objetivos específicos foram, a descrição das características clínicas da população estudada, a descrição da DLTB nos pacientes com MPS da instituição, a comparação entre os diferentes tipos de MPS em relação a DLTB, a correlação da DLTB com o tempo de evolução da doença (idade do paciente) e a correlação da mesma com a terapia de reposição enzimática(TRE) e seu início de tratamento.. Os dados colhidos referiram-se ao tipo de MPS, idade, altura, peso, idade ao diagnóstico, cirurgia antes do diagnóstico bioquímico da doença e sinais e sintomas respiratórios associados; em relação a DLTB, foram avaliadas e descritas as principais alterações endoscopicamente encontradas na laringe, traquéia e brônquios destes pacientes; por falta de uniformização da classificação da DLTB em literatura , criou-se uma classificação própria e subgrupos da mesma: (DLTB ausente, leve a moderada, moderada a grave e grave). Foram avaliados resultados de 30 exames endoscópicos e apenas 4 pacientes (13,33%) desses apresentaram exame normal, 9 pacientes (30%) doença leve a moderada, 12 pacientes (40%) doença moderada a grave e 5 pacientes (16,67%) doença grave. Finalmente, na associação entre o tempo de evolução da MPS e a DLTB, observou-se que a doença respiratória é significativamente mais grave nos pacientes mais velhos. O tempo prolongado de TRE não impediu a progressão da DLTB, entretanto a idade de início desta terapia pode ser fator crucial na DLTB , uma vez que os pacientes que iniciaram tratamento tardiamente estão piores quando comparados aos que iniciaram mais precocemente.

Use of new imaging in detecting and monitoring ocular manifestations of the mucopolysaccharidoses.

The aim of this review is to summate the eye involvement in patients with mucopolysaccharidoses (MPS) using current ocular imaging techniques, their advantages and disadvantages and how they may aid diagnosis, management and monitoring. We critically reviewed the current literature surrounding MPS and recent imaging technology as well as histology. Primary searches of PubMed and Web of Science were performed. We reviewed all papers on the topic published and summarized the findings of each medical device as well as the advantages and disadvantages of using these for the MPS patient. We discussed the potential of each of these devices to monitor potential ocular pathology in the MPS cohorts in the order of MPS subtype. We reviewed imaging techniques involving use of the Iris Camera, Pentacam, Optical Coherence Tomography (OCT) as well as ultrasound and Heidelberg OCT. The need for reliable objective quantification of eye findings in MPS has led to utilization of new imaging technologies described here, and future use will enhance our understanding of the unique eye features in MPS. In particular, we note that the Pentacam and iris camera are able to provide objective measurements of corneal haze and monitor ocular response to treatment.

Thoracolumbar kyphosis in patients with mucopolysaccharidoses: clinical outcomes and predictive radiographic factors for progression of deformity.

AIMS: Clinical and radiological data were reviewed for all patients with mucopolysaccharidoses (MPS) with thoracolumbar kyphosis managed non-operatively or operatively in our institution. METHODS: 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 +1.5(o)/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 10.8(o)/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). RESULTS: In the surgical group (mean age at surgery of 6.6 years; 2.4 to 16.8); mean post-operative follow-up of 6.3 years (3.5 to 10.3), mean pre-operative thoracolumbar kyphosis of 74.3(o) (42(o) to 110(o)) was corrected to mean of 28.6(o) (0(o) to 65(o)) post-operatively, relating to a mean deformity correction of 66.9% (31% to 100%). Surgical complications included a deep wound infection treated by early debridement, apical non-union treated by posterior re-grafting, and stable adjacent segment spondylolisthesis managed non-operatively. Thoracolumbar kyphosis > +38(o) at initial presentation was identified as predicting progressively severe deformity with 90% sensitivity and 83% specificity. DISCUSSION: This study demonstrates that severe thoracolumbar kyphosis in patients with MPS can be effectively treated by circumferential arthrodesis. Severity of kyphosis at initial presentation may predict progression of thoracolumbar deformity. Patients with MPS may be particularly susceptible to post-operative complications due to the underlying connective tissue disorder and inherent immunological compromise. TAKE HOME MESSAGE: Clinical and radiological data were reviewed for all patients with mucopolysaccharidoses with thoracolumbar kyphosis managed non-operatively or operatively in our institution.

Mucopolysaccharidosis: radiographic findings in a series of 16 cases.

OBJECTIVES: To investigate the radiographic findings of mucopolysaccharidoses (MPS) on panoramic radiographs in a series of 16 patients. STUDY DESIGN: This retrospective cross-sectional study included panoramic radiographs of 16 patients with cytogenetically diagnosed MPS. Two blinded, previously calibrated observers evaluate the presence or absence of the following features: type of dentition; stage of dental age in comparison with chronologic age; delayed exfoliation of deciduous teeth; supernumerary teeth; teeth impaction; enlarged, cyst-like dental crypt; hypercementosis; taurodontism; generalized enamel hypoplasia; enlargement of the bone marrow spaces; thinning of cortical bone; unusual morphology of condyles; and flattening of the condylar head. RESULTS: The final sample was composed of 8 MPS IV, 7 MPS VI, and 1 MPS I cases. All patients presented unusual morphology of condyles. Cyst-like dental crypt (75%), taurodontism, and teeth impaction (68.75% each) were also overall common findings. Generalized enamel hypoplasia was exclusively identified in patients with MPS IV (75% of those patients). CONCLUSIONS: Radiographic features of oral and maxillofacial manifestations in patients with MPS frequently encountered by dentists may help recognize the disorder. However, because of sample size limitations, it was not possible to infer any statistical relationship between the radiographic features and the types of MPS.

Patients with mucopolysaccharidosis have tendencies towards vertical facial growth.

PURPOSE: Studies addressing the changes in craniofacial morphology of patients with mucopolysaccharidosis (MPS) are important for a better understanding of the progression of this disease. The present objective was to identify major cephalometric abnormalities in these patients. MATERIALS AND METHODS: This was a cross-sectional case-and-control study. The sample was composed of 2 types of study subjects (patients with MPS and normal subjects). The outcome variables were numerous cephalometric elements that measure facial height, dental positioning, facial growth pattern, and mandibular and maxillary positioning. The Student t test was used to compare the mean angular and linear measurements of the case and control groups and the level of significance was set at a P value less than .05. The Bonferroni method was used for adjustment of the P value (P<.003 was deemed significant). RESULTS: The control group consisted of randomly selected subjects matched to the patients with MPS for the demographic variables of gender and age. Seventeen patients with MPS were evaluated (64.7% female). The mean age of the sample was 13.29 years. One patient had MPS I, 8 had MPS IV, and 8 had MPS VI. The results showed important differences between groups in angular measurements (angle formed by the line between the sella and nasion [SN] and the plane of the gonion and gnathion, angle formed by the intersection of the gnathion point and the SN line, angle formed by the intersection of the long axis of the lower incisor with the line between the nasion and the B point, angle formed by the intersection of the long axes of the upper and lower incisors, and angle formed by the Frankfort horizontal plane with the mandibular plane) and linear measurements (condyle to A point, condyle to gnathion, pro-nasal ( Pn) point to the line between the pogonion and upper incisor, and the nearest point of the anterior half of the soft palate to the posterior pharyngeal wall). The angle formed by the SN line with the plane between the gonion and the gnathion and the distance from the condyle to the A point showed meaningful differences after Bonferroni adjustment. CONCLUSION: Patients with MPS present a tendency toward vertical growth that results in a dolichocephalic facial pattern. In addition, a smaller nasopharyngeal space was observed, a factor that might be responsible for the mouth breathing observed in these patients.

CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses.

BACKGROUND: Mucopolysaccharidoses (MPSs) are lysosomal storage disorders caused by lysosomal enzyme deficiencies that result in systemic accumulation of glycosaminoglycans (GAGs). Accumulation of GAGs in the upper airway can lead to respiratory failure. The aim of this study was to investigate changes of the airway by flexible endoscopy and CT. METHODS: Thirty-five patients aging from 2 to 16 years (mean: 9.2±4.4 years) participated in this study. The majority had MPS I (n=5) or MPS II (n=25). The shape of the trachea and the cross-sectional trachea surface area (TSA) was determined at the Th1 and Th2 levels. Airway obstruction was evaluated from endoscopic findings and classified into 3 grades (Grades 0, 1, and 2). Forty-five patients in the control group who underwent tracheal CT for other conditions were retrospectively selected from the database. RESULTS: Tracheal morphology was abnormal in 50-60%, which showed a transversely collapsing narrow trachea. Tracheal deformity was severe in MPS II and MPS IV. The mean TSA of the MPS patients was 55.5±29.0 mm(2) at Th1 and 61.4±29.0 mm(2) at Th2, while that of the control group was 90.1±41.9 mm(2) and 87.9±39.3 mm(2), respectively. Respiratory distress was noted in 15 of the 35 patients, among whom 7 patients showed tracheal deformity and 7 patients had laryngeal redundancy. Three patients had no abnormalities of the larynx or trachea, so other factors such as pharyngeal stenosis or lower airway stenosis might have contributed to their respiratory distress. CONCLUSION: CT and flexible endoscopy allow quantitative and morphological evaluation of airway narrowing, which is beneficial for airway management in MPS children.

Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy.

Mucopolysaccharidosis I (MPS I) and MPS VII are due to deficient activity of the glycosaminoglycan-degrading lysosomal enzymes alpha-L-iduronidase and beta-glucuronidase, respectively, and result in abnormal bones and joints. Here, the severity of skeletal disease in MPS I and MPS VII dogs and the effects of neonatal gene therapy were evaluated. For untreated MPS VII dogs, the lengths of the second cervical vertebrae (C2) and the femur were only 56% and 84% of normal, respectively, and bone dysplasia and articular erosions, and joint subluxation were severe. Previously, we reported that neonatal intravenous injection of a retroviral vector (RV) with the appropriate gene resulted in expression in liver and blood cells, and high serum enzyme activity. In this study, we demonstrate that C2 and femurs of RV-treated MPS VII dogs were longer at 82% and 101% of normal, respectively, and there were partial improvements of qualitative abnormalities. For untreated MPS I dogs, the lengths of C2 and femurs (91% and 96% of normal, respectively) were not significantly different from normal dogs. Qualitative changes in MPS I bones and joints were generally modest and were partially improved with RV treatment, although cervical spine disease was severe and was difficult to correct with gene therapy in both models. The greater severity of skeletal disease in MPS VII than in MPS I dogs may reflect accumulation of chondroitin sulfate in cartilage in MPS VII, or could relate to the specific mutations. Neonatal RV-mediated gene therapy ameliorates, but does not prevent, skeletal disease in MPS I and MPS VII dogs.

[Mucopolysaccharidoses]. / Mukopolysaccharidosen.

Mucopolysaccharidoses are a family of metabolic disorders characterized by a deficiency in the catabolic lysosomal pathways. They are rare, inherited diseases which lead to progressive cellular, tissue and organ damage across a broad spectrum of phenotypes. To prevent irreversible damage early diagnosis is essential. Typical signs and symptoms are the thoracolumbar gibbus, shortened and plumped metacarpal bones, hip dysplasia, deformed ribs and ovoid vertebral bodies. Due to the typical deformation of the pelvis hip dislocation occurs often in childhood. Bilateral carpal tunnel syndrome is frequent. Bone marrow transplantation and enzyme replacement therapy are available. Orthopaedic interventions are based on individual therapeutic decisions and indications.

[Epiphyseal dysplasia--symptoms and differential diagnostic aspects]. / Epiphysäre Dysplasie -- Krankheitsbild und differentialdiagnostische Betrachtungen.

AIM: Children complaining of hip pain most likely suffer from Perthes' disease. Similar morphological changes are seen in the hereditary diseases of the epiphyseal dysplasias which have a prevalence of about 40 of 100 000 inhabitants. We now show the differentiation between bilateral Perthes' disease, epiphyseal dysplasia and skeletal disorders like mucopolysaccharidosis and pseudoachondroplasia. METHOD: We describe the diseases of multiple epiphyseal dysplasia and spondyloepiphyseal dysplasia on the basis of two case reports. Furthermore, we discuss differential diagnostic aspects, therapeutic options and prognosis. RESULTS: Epiphyseal dysplasias are classified as osteochondral dysplasia. The characteristic feature of these heredopathies is short statue due to skeletal dysplasias at various sites. Multiple epiphyseal dysplasia is caused by an abnormality of enchondral ossification. A distinction is made between the severe Fairbank form, the milder Ribbing form and a mild but rather localised Meyer form. In addition to the femoral head, the spinal bodies can also be affected by the same enchondral ossification disorders and this is defined as spondyloepiphyseal dysplasia. CONCLUSION: The diagnosis of a Perthes' disease can be made from an X-ray of the hip, showing either an advanced necrosis of the femoral head or early signs of it. Typical radiological findings allow the differentiation to other skeletal dysplasias like epiphyseal dysplasia and metabolic disorders.

Postobstructive pulmonary oedema during anaesthesia in children with mucopolysaccharidoses.

We present case reports of five patients with severe forms of mucopolysaccharidoses who developed postobstructive pulmonary oedema during anaesthesia. The difficulties of anaesthesia in these patients and the particular predisposition that these patients exhibit for the development of postobstructive pulmonary oedema is discussed.

Radiographic features of feline joint diseases.

Feline joint disorders are often overlooked, possibly because cats are extremely agile and appear to cope with pathologic changes within their joints better than their canine counterparts. There is a growing awareness that osteoarthritis occurs more frequently than previously anticipated in cats, and recently we have seen the emergence of hip dysplasia as an entity of concern in some purebred cats. There are also several poorly understood conditions that affect the joints of cats, such as synovial osteochondromatosis, that invite further study. In recent years we have seen an expansion in the knowledge of immune-mediated and infectious arthropathies and their inter-relationship with infective agents. This article describes the radiographic changes seen in many of the currently recognized joint disorders of domestic cats.