Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy
Introduction. Acute necrotizing encephalopathy (ANE), a rare entity with unique clinical presentation, can be associated significant morbidity and mortality. The majority of ANE reported cases are sporadic. However, reports of extremely rare familial cases are scarce. Case Presentation. We described...
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | International Journal of Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2021/6695119 |
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| author | Mohamad Paktinat Kamran Hessami Soroor Inaloo Hamid Nemati Pegah Katibeh Marzieh Nejabat Mohammad Hassan Darabi Ali Hosseini Bereshneh |
| author_facet | Mohamad Paktinat Kamran Hessami Soroor Inaloo Hamid Nemati Pegah Katibeh Marzieh Nejabat Mohammad Hassan Darabi Ali Hosseini Bereshneh |
| author_sort | Mohamad Paktinat |
| collection | DOAJ |
| description | Introduction. Acute necrotizing encephalopathy (ANE), a rare entity with unique clinical presentation, can be associated significant morbidity and mortality. The majority of ANE reported cases are sporadic. However, reports of extremely rare familial cases are scarce. Case Presentation. We described three cases, two siblings and their cousin, affected by ANE, all of them exhibiting RAN-binding protein 2 (RANBP2) gene mutation. They all presented with seizure and decreased level of consciousness. Unlike the siblings, the cousin eventually expired mainly due to the delay in diagnosis, resulting from late presentation of typical brain involvements of ANE in magnetic resonance imaging (MRI). Conclusion. The presented cases are the first reports of familial ANE in Iran. Attempt was made to raise awareness on this disease, because high clinical suspicion plays an important role in the early diagnosis and proper management of these patients. |
| format | Article |
| id | doaj-art-67cdb98f57fb4c4287d96811e2140351 |
| institution | Kabale University |
| issn | 1687-9740 1687-9759 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Pediatrics |
| spelling | doaj-art-67cdb98f57fb4c4287d96811e21403512025-02-03T06:06:27ZengWileyInternational Journal of Pediatrics1687-97401687-97592021-01-01202110.1155/2021/66951196695119Case Report of RANBP2 Mutation and Familial Acute Necrotizing EncephalopathyMohamad Paktinat0Kamran Hessami1Soroor Inaloo2Hamid Nemati3Pegah Katibeh4Marzieh Nejabat5Mohammad Hassan Darabi6Ali Hosseini Bereshneh7Neonatology Research Center, Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, IranStudent Research Committee, Shiraz University of Medical Sciences, Shiraz, IranNeonatology Research Center, Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, IranNeonatology Research Center, Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, IranNeonatology Research Center, Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, IranNeonatology Research Center, Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, IranStudent Research Committee, Shiraz University of Medical Sciences, Shiraz, IranPrenatal Diagnosis and Genetic Research Center, Shiraz University of Medical Sciences, Shiraz, IranIntroduction. Acute necrotizing encephalopathy (ANE), a rare entity with unique clinical presentation, can be associated significant morbidity and mortality. The majority of ANE reported cases are sporadic. However, reports of extremely rare familial cases are scarce. Case Presentation. We described three cases, two siblings and their cousin, affected by ANE, all of them exhibiting RAN-binding protein 2 (RANBP2) gene mutation. They all presented with seizure and decreased level of consciousness. Unlike the siblings, the cousin eventually expired mainly due to the delay in diagnosis, resulting from late presentation of typical brain involvements of ANE in magnetic resonance imaging (MRI). Conclusion. The presented cases are the first reports of familial ANE in Iran. Attempt was made to raise awareness on this disease, because high clinical suspicion plays an important role in the early diagnosis and proper management of these patients.http://dx.doi.org/10.1155/2021/6695119 |
| spellingShingle | Mohamad Paktinat Kamran Hessami Soroor Inaloo Hamid Nemati Pegah Katibeh Marzieh Nejabat Mohammad Hassan Darabi Ali Hosseini Bereshneh Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy International Journal of Pediatrics |
| title | Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy |
| title_full | Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy |
| title_fullStr | Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy |
| title_full_unstemmed | Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy |
| title_short | Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy |
| title_sort | case report of ranbp2 mutation and familial acute necrotizing encephalopathy |
| url | http://dx.doi.org/10.1155/2021/6695119 |
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