Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome
Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain mal...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-07-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/10/7/450 |
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| author | Domenico M. Romeo Alessandro Specchia Alfonso Fasano Chiara Leoni Roberta Onesimo Claudia Brogna Stefania Veltri Giuseppe Zampino |
| author_facet | Domenico M. Romeo Alessandro Specchia Alfonso Fasano Chiara Leoni Roberta Onesimo Claudia Brogna Stefania Veltri Giuseppe Zampino |
| author_sort | Domenico M. Romeo |
| collection | DOAJ |
| description | Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain malignancies. The musculoskeletal system is particularly affected in CS, with peculiar orthopedic anomalies that impact posture and gait. Dystonia has been recently documented to contribute to abnormal postures and musculoskeletal anomalies characterizing CS, suggesting the possible use of pharmacological treatments to treat these complications. We report the case of a child affected by CS displaying a particularly severe musculoskeletal involvement with dystonic posture especially in the arms and legs. The Movement Disorder-Childhood Rating Scale (MD-CRS) and a gait analysis were used to assess clinical patterns of hyperkinetic movement disorder and dystonia. The child was further treated with trihexyphenidyl for six months with a final dosage of 14 mg. MD-CRS and gait analysis assessments provided evidence for a significant improvement of posture and the related musculoskeletal problems with no side effects. Our preliminary study report provides first evidence that pharmacological anti-dystonia treatment significantly improves movement and posture disorders in patients with CS. Further studies enrolling larger cohorts of patients should be performed to validate these preliminary observations. |
| first_indexed | 2024-03-10T18:29:13Z |
| format | Article |
| id | doaj.art-fe11433cde7947f1831d49d349f135e5 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T18:29:13Z |
| publishDate | 2020-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-fe11433cde7947f1831d49d349f135e52023-11-20T06:47:10ZengMDPI AGBrain Sciences2076-34252020-07-0110745010.3390/brainsci10070450Treatment of Dystonia Using Trihexyphenidyl in Costello SyndromeDomenico M. Romeo0Alessandro Specchia1Alfonso Fasano2Chiara Leoni3Roberta Onesimo4Claudia Brogna5Stefania Veltri6Giuseppe Zampino7Pediatric Neurology Unit, Fondazione Policlinico A. Gemelli, IRCCS, 00168 Rome, ItalyPhysical and Rehabilitation Unit, Fondazione Policlinico A. Gemelli, IRCC, 00168 Rome, ItalyEdmond J. Safra Program in Parkinson’s Disease and the Morton and Gloria Shulman Movement Disorders Centre and the, Toronto Western Hospital, UHN, Toronto, ON M5T 2S8, CanadaRare Diseases and Birth Defects Unit, Fondazione Policlinico A. Gemelli, IRCCS, 00168 Rome, ItalyRare Diseases and Birth Defects Unit, Fondazione Policlinico A. Gemelli, IRCCS, 00168 Rome, ItalyPediatric Neurology Unit, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyPediatric Neurology Unit, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyRare Diseases and Birth Defects Unit, Fondazione Policlinico A. Gemelli, IRCCS, 00168 Rome, ItalyCostello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain malignancies. The musculoskeletal system is particularly affected in CS, with peculiar orthopedic anomalies that impact posture and gait. Dystonia has been recently documented to contribute to abnormal postures and musculoskeletal anomalies characterizing CS, suggesting the possible use of pharmacological treatments to treat these complications. We report the case of a child affected by CS displaying a particularly severe musculoskeletal involvement with dystonic posture especially in the arms and legs. The Movement Disorder-Childhood Rating Scale (MD-CRS) and a gait analysis were used to assess clinical patterns of hyperkinetic movement disorder and dystonia. The child was further treated with trihexyphenidyl for six months with a final dosage of 14 mg. MD-CRS and gait analysis assessments provided evidence for a significant improvement of posture and the related musculoskeletal problems with no side effects. Our preliminary study report provides first evidence that pharmacological anti-dystonia treatment significantly improves movement and posture disorders in patients with CS. Further studies enrolling larger cohorts of patients should be performed to validate these preliminary observations.https://www.mdpi.com/2076-3425/10/7/450Costello syndromedystoniatrihexyphenidylpersonalized medicine |
| spellingShingle | Domenico M. Romeo Alessandro Specchia Alfonso Fasano Chiara Leoni Roberta Onesimo Claudia Brogna Stefania Veltri Giuseppe Zampino Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome Brain Sciences Costello syndrome dystonia trihexyphenidyl personalized medicine |
| title | Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome |
| title_full | Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome |
| title_fullStr | Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome |
| title_full_unstemmed | Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome |
| title_short | Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome |
| title_sort | treatment of dystonia using trihexyphenidyl in costello syndrome |
| topic | Costello syndrome dystonia trihexyphenidyl personalized medicine |
| url | https://www.mdpi.com/2076-3425/10/7/450 |
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