Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation
STXBP1 gene mutations are among the most common mutations in earlyonset epileptic encephalopathies. The clinical spectrum of STXBP1 mutations is not limited to epileptic phenotypes and also includes atypical Rett syndrome and non-syndromic sporadic severe intellectual disability. Tremor, dystonia,...
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Hacettepe University Institute of Child Health
2019-10-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/764 |
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| author | Aydan Değerliyurt Gamze Gezgen Kesen Serdar Ceylaner |
| author_facet | Aydan Değerliyurt Gamze Gezgen Kesen Serdar Ceylaner |
| author_sort | Aydan Değerliyurt |
| collection | DOAJ |
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STXBP1 gene mutations are among the most common mutations in earlyonset epileptic encephalopathies. The clinical spectrum of STXBP1 mutations is not limited to epileptic phenotypes and also includes atypical Rett syndrome and non-syndromic sporadic severe intellectual disability. Tremor, dystonia, choreiform movements, stereotypical head movements and ataxia may also be seen. However, the phenotypical spectrum is not as well-known as the other common SCN1A or CDKL5 gene mutations, making the clinical diagnosis difficult and usually requiring gene panel studies or whole exome sequencing for the diagnosis. We present a 17-year-old male patient whose seizures started at the age of 12 years. The patient could only make limited eye contact, would continuously scream, and also had severe intellectual disability, marked ataxic walking and a very significant coarse tremor. The patient was clinically thought to have STXBP1 encephalopathy due to the presence of severe intellectual disability together with tremor, and ataxia. STXBP1 gene analysis revealed a new c.9_13delCATTG (pIle4Profs*12) (p.I4Pfs*12) (heterozygous) frameshift mutation. In conclusion, STXBP1 encephalopathy should be considered if severe intellectual disability is accompanied by severe tremor and ataxia in a patient with epileptic and developmental encephalopathy. A normal head circumference supports the diagnosis in such patients.
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| format | Article |
| id | doaj-art-bb524733a9d3471b80a11896cd3679c2 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-bb524733a9d3471b80a11896cd3679c22025-08-20T02:01:54ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-10-0161510.24953/turkjped.2019.05.015Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutationAydan Değerliyurt0Gamze Gezgen Kesen1Serdar Ceylaner2Departments of Pediatric Neurology, Ankara Children's Hematology and Oncology Training and Research Hospital, Ankara.Departments of Pediatrics, Ankara Children's Hematology and Oncology Training and Research Hospital, Ankara.Intergen Genetics Centre, Ankara, Turkey. STXBP1 gene mutations are among the most common mutations in earlyonset epileptic encephalopathies. The clinical spectrum of STXBP1 mutations is not limited to epileptic phenotypes and also includes atypical Rett syndrome and non-syndromic sporadic severe intellectual disability. Tremor, dystonia, choreiform movements, stereotypical head movements and ataxia may also be seen. However, the phenotypical spectrum is not as well-known as the other common SCN1A or CDKL5 gene mutations, making the clinical diagnosis difficult and usually requiring gene panel studies or whole exome sequencing for the diagnosis. We present a 17-year-old male patient whose seizures started at the age of 12 years. The patient could only make limited eye contact, would continuously scream, and also had severe intellectual disability, marked ataxic walking and a very significant coarse tremor. The patient was clinically thought to have STXBP1 encephalopathy due to the presence of severe intellectual disability together with tremor, and ataxia. STXBP1 gene analysis revealed a new c.9_13delCATTG (pIle4Profs*12) (p.I4Pfs*12) (heterozygous) frameshift mutation. In conclusion, STXBP1 encephalopathy should be considered if severe intellectual disability is accompanied by severe tremor and ataxia in a patient with epileptic and developmental encephalopathy. A normal head circumference supports the diagnosis in such patients. https://turkjpediatr.org/article/view/764STXBP1ataxiaepileptic encephalopathyintellectual disabilitytremor |
| spellingShingle | Aydan Değerliyurt Gamze Gezgen Kesen Serdar Ceylaner Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation The Turkish Journal of Pediatrics STXBP1 ataxia epileptic encephalopathy intellectual disability tremor |
| title | Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation |
| title_full | Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation |
| title_fullStr | Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation |
| title_full_unstemmed | Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation |
| title_short | Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation |
| title_sort | ataxia tremor intellectual disability a case of stxbp1 encephalopathy with a new mutation |
| topic | STXBP1 ataxia epileptic encephalopathy intellectual disability tremor |
| url | https://turkjpediatr.org/article/view/764 |
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