Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III
| العنوان: | Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III |
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| المؤلفون: | Rachel Sayuri Honjo, José Ricardo Magliocco Ceroni, Chong Ae Kim, Diana Salazar Bermeo, Gustavo Marquezani Spolador, Débora Romeo Bertola, Luiz Antonio Nunes de Oliveira |
| المصدر: | Skeletal Radiology. 48:1201-1207 |
| بيانات النشر: | Springer Science and Business Media LLC, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Genetic counseling, Scoliosis, Short stature, 030218 nuclear medicine & medical imaging, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Mucolipidoses, medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Retrospective Studies, 030203 arthritis & rheumatology, Mucolipidosis, business.industry, Infant, Retrospective cohort study, medicine.disease, Hypoplasia, Radiography, Child, Preschool, Orthopedic surgery, Female, Differential diagnosis, medicine.symptom, business, Brazil |
| الوصف: | The present study aims to provide orientation for clinicians and radiologists to recognize the most prevalent findings leading to diagnosis in mucolipidosis from a description of the natural history of five Brazilian cases. We conducted an observational and retrospective study of five patients with clinical and radiological diagnosis of mucolipidosis. Clinical evaluation consisted of information obtained from records and including physical, neurologic, and dysmorphic evaluations. Radiologic studies consisted of complete skeletal radiographs of all patients. Enzyme assessment was performed for confirmation of the diagnosis. The five patients were referred for genetic evaluation due to disproportionate short stature with short trunk accompanied by waddling gait. Age at referral varied from 11 months to 28 years. The most prevalent findings were joint restriction (4/5 patients), neuropsychomotor developmental delay (3/5), coarse facies (2/5), hypertrophic cardiomyopathy (2/5), and mental retardation (1/4 patients). The most common radiological findings were anterior beaking of the vertebral bodies (5/5), shallow acetabular fossae (5/5), epiphyseal dysplasia (5/5), platyspondyly (4/5), pelvic dysplasia (4/5), decreased bone mineralization (4/5), scoliosis (3/5), wide and oar-shaped ribs (3/5), generalized epiphyseal ossification delay (3/5), and hypoplasia of basilar portions of ilea (3/5). Enzyme assessment showed α-iduronidase, α-mannosidase, β-glucuronidase, hexosaminidase A, and total hexosaminidase increased in plasma and normal glycosaminoglycans concentration. One patient was clinically classified as ML II and four patients as ML III. The follow-up of five patients showed the typical clinical and radiological findings allowing the diagnosis, thus improving clinical management and providing adequate genetic counseling. Clinicians and radiologists can take advantage of the information from this work, enhancing their differential diagnosis ability. |
| تدمد: | 1432-2161 0364-2348 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3834750bd4da956c4e00bcc3093c86 https://doi.org/10.1007/s00256-019-3159-x |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....bf3834750bd4da956c4e00bcc3093c86 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 14322161 03642348 |
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