Phenotypic variability in two siblings with Poretti-Boltshauser syndrome
Introduction: Poretti-Boltshauser Syndrome (PBS) is a rare neuro-ophthalmological disorder with autosomal recessive inheritance. It is characterized by non-progressive cerebellar ataxia, delay in neuropsychomotor development, intellectual disability, and vision abnormalities. PBS is caused by mutati...
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KeAi Communications Co., Ltd.
2025-03-01
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| Series: | Global Medical Genetics |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2699940424000109 |
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| author | Karolyne Michele Moura Raftopoulos Fernanda Sousa Nascimento Chiang Lorena de Melo Gama Luciano Farage Cristina Touguinha Neves Medina |
| author_facet | Karolyne Michele Moura Raftopoulos Fernanda Sousa Nascimento Chiang Lorena de Melo Gama Luciano Farage Cristina Touguinha Neves Medina |
| author_sort | Karolyne Michele Moura Raftopoulos |
| collection | DOAJ |
| description | Introduction: Poretti-Boltshauser Syndrome (PBS) is a rare neuro-ophthalmological disorder with autosomal recessive inheritance. It is characterized by non-progressive cerebellar ataxia, delay in neuropsychomotor development, intellectual disability, and vision abnormalities. PBS is caused by mutations in the LAMA1 gene, resulting in cerebellar abnormalities, including cerebellar cysts in most cases. Case presentation: We present two siblings with LAMA1 mutations and distinct phenotypic presentation, with one of them showing no evidence of cerebellar cysts on magnetic resonance imaging (MRI). Conclusion: This study highlights intrafamilial variability in patients with Poretti-Boltshauser Syndrome (PBS). Patient 1 exhibits more pronounced cerebellar dysplasia (with cysts) and oculomotor apraxia, while Patient 2 shows milder cerebellar dysplasia (without cysts) and a macular hole. These findings underscore the importance of comprehensive evaluation and genetic testing for accurate diagnosis and management of PBS. |
| format | Article |
| id | doaj-art-e7fd159d03454e5082554b2572dc04b0 |
| institution | DOAJ |
| issn | 2699-9404 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | KeAi Communications Co., Ltd. |
| record_format | Article |
| series | Global Medical Genetics |
| spelling | doaj-art-e7fd159d03454e5082554b2572dc04b02025-08-20T02:45:27ZengKeAi Communications Co., Ltd.Global Medical Genetics2699-94042025-03-0112110001010.1016/j.gmg.2024.100010Phenotypic variability in two siblings with Poretti-Boltshauser syndromeKarolyne Michele Moura Raftopoulos0Fernanda Sousa Nascimento Chiang1Lorena de Melo Gama2Luciano Farage3Cristina Touguinha Neves Medina4Department of Medical Genetics, Apoio Hospital, Brasília, Distrito Federal, Brazil; Correspondence to: AENW 3 Lote A Setor Noroeste, Brasília, DF CEP 70684–831, Brazil.Department of Medical Genetics, Apoio Hospital, Brasília, Distrito Federal, BrazilDepartment of Medical Genetics, Apoio Hospital, Brasília, Distrito Federal, BrazilNeuroradiology Unit, Radiology Department, Instituto de Cardiologia e Transplantes do Distrito Federal (ICTDF), Brasília, Distrito Federal, BrazilDepartment of Medical Genetics, Apoio Hospital, Brasília, Distrito Federal, BrazilIntroduction: Poretti-Boltshauser Syndrome (PBS) is a rare neuro-ophthalmological disorder with autosomal recessive inheritance. It is characterized by non-progressive cerebellar ataxia, delay in neuropsychomotor development, intellectual disability, and vision abnormalities. PBS is caused by mutations in the LAMA1 gene, resulting in cerebellar abnormalities, including cerebellar cysts in most cases. Case presentation: We present two siblings with LAMA1 mutations and distinct phenotypic presentation, with one of them showing no evidence of cerebellar cysts on magnetic resonance imaging (MRI). Conclusion: This study highlights intrafamilial variability in patients with Poretti-Boltshauser Syndrome (PBS). Patient 1 exhibits more pronounced cerebellar dysplasia (with cysts) and oculomotor apraxia, while Patient 2 shows milder cerebellar dysplasia (without cysts) and a macular hole. These findings underscore the importance of comprehensive evaluation and genetic testing for accurate diagnosis and management of PBS.http://www.sciencedirect.com/science/article/pii/S2699940424000109Rare DiseasesCerebellumGeneticsVision DisordersMagnetic Ressonance Imaging |
| spellingShingle | Karolyne Michele Moura Raftopoulos Fernanda Sousa Nascimento Chiang Lorena de Melo Gama Luciano Farage Cristina Touguinha Neves Medina Phenotypic variability in two siblings with Poretti-Boltshauser syndrome Global Medical Genetics Rare Diseases Cerebellum Genetics Vision Disorders Magnetic Ressonance Imaging |
| title | Phenotypic variability in two siblings with Poretti-Boltshauser syndrome |
| title_full | Phenotypic variability in two siblings with Poretti-Boltshauser syndrome |
| title_fullStr | Phenotypic variability in two siblings with Poretti-Boltshauser syndrome |
| title_full_unstemmed | Phenotypic variability in two siblings with Poretti-Boltshauser syndrome |
| title_short | Phenotypic variability in two siblings with Poretti-Boltshauser syndrome |
| title_sort | phenotypic variability in two siblings with poretti boltshauser syndrome |
| topic | Rare Diseases Cerebellum Genetics Vision Disorders Magnetic Ressonance Imaging |
| url | http://www.sciencedirect.com/science/article/pii/S2699940424000109 |
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