Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay
Background. Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency. Case. Here we report two Turkish...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2020-06-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/468 |
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| author | Mina Hızal Batuhan Yeke Yılmaz Yıldız Ali Öztürk Berrak Bilginer Gürbüz Turgay Coşkun |
| author_facet | Mina Hızal Batuhan Yeke Yılmaz Yıldız Ali Öztürk Berrak Bilginer Gürbüz Turgay Coşkun |
| author_sort | Mina Hızal |
| collection | DOAJ |
| description |
Background. Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.
Case. Here we report two Turkish patients with Vici syndrome. One of these patients had a novel mutation in EPG5 and presented with idiopathic thrombocytopenic purpura (ITP) and maculopapular rashes similar to Stevens-Johnson syndrome, which has been previously reported in only a few cases in the literature.
Conclusion. Vici syndrome presents with a typical phenotype which may facilitate diagnosis for infants with multisystemic disorders. ITP and maculopapular rashes might be added to the spectrum of findings of patients with Vici syndrome.
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| format | Article |
| id | doaj-art-1336ea174a2149e4bc7e2e852e4ff436 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2020-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-1336ea174a2149e4bc7e2e852e4ff4362025-08-20T03:00:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212020-06-0162310.24953/turkjped.2020.03.015Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delayMina Hızal0Batuhan Yeke1Yılmaz Yıldız2Ali Öztürk3Berrak Bilginer Gürbüz4Turgay Coşkun5Divisions of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara.Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.Divisions of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara.Department of Pediatric Emergency Care, Dokuz Eylul University Faculty of Medicine, İzmir, Turkey.Divisions of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara.Divisions of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara. Background. Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency. Case. Here we report two Turkish patients with Vici syndrome. One of these patients had a novel mutation in EPG5 and presented with idiopathic thrombocytopenic purpura (ITP) and maculopapular rashes similar to Stevens-Johnson syndrome, which has been previously reported in only a few cases in the literature. Conclusion. Vici syndrome presents with a typical phenotype which may facilitate diagnosis for infants with multisystemic disorders. ITP and maculopapular rashes might be added to the spectrum of findings of patients with Vici syndrome. https://turkjpediatr.org/article/view/468EPG5 mutationVici syndromeautophagyoculocutaneous albinism |
| spellingShingle | Mina Hızal Batuhan Yeke Yılmaz Yıldız Ali Öztürk Berrak Bilginer Gürbüz Turgay Coşkun Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay The Turkish Journal of Pediatrics EPG5 mutation Vici syndrome autophagy oculocutaneous albinism |
| title | Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay |
| title_full | Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay |
| title_fullStr | Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay |
| title_full_unstemmed | Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay |
| title_short | Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay |
| title_sort | two cases of vici syndrome presenting with corpus callosum agenesis albinism and severe developmental delay |
| topic | EPG5 mutation Vici syndrome autophagy oculocutaneous albinism |
| url | https://turkjpediatr.org/article/view/468 |
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