Dataset Information

Spondyloepiphyseal dysplasias and bilateral legg-calve-perthes disease: diagnostic considerations for mucopolysaccharidoses.

ABSTRACT: Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, MIM 253200 ) is an autosomal recessive lysosomal storage disease (LSD) caused by decreased activity of arylsulfatase B (N-acetylgalactosamine 4-sulfatase) enzyme resulting in dermatan sulfate accumulation; mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome A, MIM 253000 ) by decreased activity of N-acetylgalactosamine 6-sulfatase enzyme resulting in accumulation of keratan sulfate. Clinical symptoms include coarse facial features, joint stiffness, hepatosplenomegaly, hip osteonecrosis, and dysostosis multiplex. MPS IVA symptoms are similar but with joint hypermobility.With suspicion of MPS disease, clinicians request urine studies for quantitative and qualitative glycosaminoglycans (GAGs). Diagnosis is confirmed by decreased enzyme activity in leukocytes or cultured skin fibroblasts. Further confirmation is obtained with identification of two mutations in the ARSB gene for MPS VI or mutations in the GALNS gene for MPS IVA.We report slowly progressing patients, one with MPS VI and two with MPS IVA, who presented with skeletal changes and hip findings resembling Legg-Calvé-Perthes disease or spondyloepiphyseal dysplasia and normal/near normal urine GAG levels. The urine analysis data presented suggest that present screening techniques for MPS are inadequate in milder patients and result in delayed or missed diagnoses. The patients presented in this paper emphasize the importance of enzymatic and molecular testing.

SUBMITTER: Mendelsohn NJ

PROVIDER: S-EPMC3755551 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.

Mendelsohn Nancy J NJ Wood Timothy T Olson Rebecca A RA Temme Renee R Hale Susan S Zhang Haoyue H Read Lisa L White Klane K KK

JIMD reports 20130509

Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, MIM 253200 ) is an autosomal recessive lysosomal storage disease (LSD) caused by decreased activity of arylsulfatase B (N-acetylgalactosamine 4-sulfatase) enzyme resulting in dermatan sulfate accumulation; mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome A, MIM 253000 ) by decreased activity of N-acetylgalactosamine 6-sulfatase enzyme resulting in accumulation of keratan sulfate. Clinical symptoms include coarse facial feat ...[more]

PMID: 23657977

Similar Datasets

Project description:BackgroundLegg-Calvé-Perthes disease (LCPD) is a common public health problem that usually occurs between the ages of 4 and 8 years, but it can occur between the ages of 2 and 15 years. This condition occurs due to the interruption of blood supply to the femoral head. Up to now, different surgical and nonsurgical treatments, including femoral varus osteotomy, innominate osteotomy, pelvic osteotomies, triple osteotomy, Chiari osteotomy, and shelf acetabuloplasty, have been suggested for noncontainable LCPD hips.ObjectiveThe aim of this comprehensive review was to investigate the various surgical techniques used for LCPD.MethodsAn advanced electronic search of the English-language literature was performed from October 8 to 14, 2020. The electronic databases PubMed, MEDLINE, Web of Science, Embase, Ovid, and Google scholar were searched using appropriate search terms. A manual search of references also was performed. After retrieving the studies, duplicates were removed, and the remining studies were screened based on the title, abstract, and full text. The quality of the selected articles was assessed, and the required data were extracted from eligible articles.ResultsA total of 22 studies were included in the review. Based on the results of the reviewed studies, there are three main factors that influence the treatment outcomes in patients with Perthes disease. These factors are onset age, femoral head involvement severity, and treatment method. The disease has a poor prognosis in children over 8 years old, but this group of patients can also benefit from advanced surgical methods. In patients aged less than 6 years, the disease has a generally good prognosis, but in those aged between 6 and 8 years, its prognosis is variable. Thus, the need for surgical intervention requires close observation of signs. Once any head signs are observed, dynamic arthrography is beneficial before choosing the treatment approach.ConclusionsThis review provides clinicians with a brief guideline for the treatment of patients with LCPD.

Project description:BackgroundLegg-Calve-Perthes disease (LCPD) is a form of idiopathic femoral head necrosis that can lead to permanent femoral head deformities and premature osteoarthritis in children under the age of 15. Its pathogenesis is utterly and remains to be clarified. Although many research publications on LCPD have emerged during the last few decades, few systematic bibliometric analyses of these articles have been reported.MethodsA bibliometric analysis was performed to investigate the development processes and hotspots, as well as the collaboration and influence among countries, institutions, authors, journals, and keywords of papers relevant to LCPD from the Web of Science Core Collection (WoSCC) during the period from 1 January 2000 to 30 June 2023.ResultsA total of 2,205 researchers from 916 institutions across 53 countries/regions have contributed to 673 papers published in 199 academic journals. The research on LCPD has shown significant fluctuations but a gradual increase in the number of articles published over the last two decades. The United States leads in the number of publications of LCPD, with the Texas Scottish Rite Hospital for Children being the most productive institution. English, as the most widely used language in the world, was undoubtedly the most popular language. Herring JA, who acted as both the corresponding and first author, has contributed to the most co-cited papers published. The most number of LCPD papers are published in the Journal of Pediatric Orthopaedics, whereas the Journal of Bone and Joint Surgery American Volume garnered the highest total citations, indicating the great importance of these two journals in the field of orthopedics. The most frequently used keywords in published articles were related to the symptoms, mechanisms, and prognosis, revealing the research focus of most scholars.ConclusionOur research described the development trends and hotspots in the research field of LCPD and will help researchers make better decisions.

Dataset Information

Spondyloepiphyseal dysplasias and bilateral legg-calve-perthes disease: diagnostic considerations for mucopolysaccharidoses.

Publications

Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets