Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy
| Autor: | T E Nylen, M Gibb, A Lacson, A el-Husseini, M Moffatt, H K Jacobs, Francois P. Bernier, W Halliday, B. N. Chodirker, Cheryl R. Greenberg |
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| Rok vydání: | 1992 |
| Předmět: |
Male
musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Biopsy Duchenne muscular dystrophy Blotting Western Muscular Dystrophies Dystrophin Neonatal Screening Genetics medicine Humans Walker–Warburg syndrome Myopathy Genetics (clinical) medicine.diagnostic_test biology business.industry Muscles Infant Newborn Infant Syndrome medicine.disease Congenital myopathy nervous system diseases Hydrocephalus biology.protein Creatine kinase medicine.symptom Tomography X-Ray Computed business Research Article |
| Zdroj: | Journal of Medical Genetics. 29:583-585 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.29.8.583 |
| Popis: | This report describes our first experience with a clinically important true false positive neonatal screening test for Duchenne muscular dystrophy (DMD). Neonatal screening for DMD began as a pilot programme in Manitoba on 1 January 1986 by analysis of creatine kinase (CK) activity in dried filter paper blood spots. To date, all except two males with positive initial and follow up neonatal CK screening tests were subsequently diagnosed as having DMD. Of these two, one was a newborn male with congenital hydrocephalus whose positive DMD screening test led to the identification of an associated congenital myopathy and confirmation of the diagnosis of Walker-Warburg syndrome. |
| Databáze: | OpenAIRE |
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