| Marked improvement in Segawa syndrome after L-dopa and selegiline treatment. | |
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MedLine Citation:
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PMID: 20399390 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Three brothers, born to parents who were first cousins, were referred for progressive diffuse dystonia. Initial physical examinations revealed minor dysmorphic features, e.g., bifrontal narrowing, downslanting palpebral fissures, low-set ears, upturned nostrils, and microretrognathia, as well as neurodevelopmental delay. Absence of eye contact and head control, diffuse dystonia, hypokinesia, choreoathetosis, tremor, increased deep tendon reflexes, diffuse muscle atrophy, and spasticity were evident during neurologic evaluations. After laboratory investigations, imaging studies, and the exclusion of other causes of childhood dystonia, the children were diagnosed with Segawa syndrome. A molecular analysis of the tyrosine hydroxylase gene revealed a novel P492R (1475 C>G) mutation, further confirming the clinical diagnosis. After 1-month therapy with 2 mg/kg/day l-dopa, no changes in signs were evident. Selegiline was added, which greatly improved the clinical picture. Segawa syndrome in three brothers resulted from a novel mutation in the tyrosine hydroxylase gene. Treatment with a combination of l-dopa and selegiline led to favorable outcomes. |
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Authors:
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Elif Yosunkaya; Ender Karaca; Sarenur Basaran; Mehmet Seven; Adnan Yüksel |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 42 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-19 Completed Date: 2010-10-25 Revised Date: 2010-11-22 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 348-50 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey. yosunkayafenerci@hotmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Diseases in Twins / diagnosis*, drug therapy*, enzymology Drug Therapy, Combination Dystonic Disorders / diagnosis*, drug therapy*, enzymology Humans Infant Levodopa / administration & dosage* Male Pedigree Selegiline / administration & dosage* Syndrome Treatment Outcome Tyrosine 3-Monooxygenase / genetics |
| Chemical | |
Reg. No./Substance:
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0/Levodopa; 14611-51-9/Selegiline; EC 1.14.16.2/Tyrosine 3-Monooxygenase |
| Comments/Corrections | |
Erratum In:
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Pediatr Neurol. 2010 Nov;43(5):374 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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