Marked Improvement in Segawa Syndrome After l -Dopa and Selegiline Treatment

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 neu...

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Bibliographic Details
Published in:Pediatric neurology 2010-05, Vol.42 (5), p.348-350
Main Authors: Yosunkaya, Elif, MD, PhD, Karaca, Ender, MD, Basaran, Sarenur, MD, Seven, Mehmet, MD, Yüksel, Adnan, MD, PhD
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child, Preschool
Diseases in Twins - diagnosis
Diseases in Twins - drug therapy
Diseases in Twins - enzymology
Diseases of striated muscles. Neuromuscular diseases
Drug Therapy, Combination
Dystonic Disorders - diagnosis
Dystonic Disorders - drug therapy
Dystonic Disorders - enzymology
Humans
Infant
Levodopa - administration & dosage
Male
Medical sciences
Neurology
Pediatrics
Pedigree
Selegiline - administration & dosage
Syndrome
Treatment Outcome
Tyrosine 3-Monooxygenase - genetics
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Summary: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.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2010.01.008