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. 2021 Mar 13:2021:6695119.
doi: 10.1155/2021/6695119. eCollection 2021.

Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy

Mohamad Paktinat  1 , Kamran Hessami  2   3 , Soroor Inaloo  1 , Hamid Nemati  1 , Pegah Katibeh  1 , Marzieh Nejabat  1 , Mohammad Hassan Darabi  2 , Ali Hosseini Bereshneh  4
Affiliations

Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy

Mohamad Paktinat et al. Int J Pediatr. .

Abstract

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.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Figure 1
Figure 1
MRI images of case 1 at the (a) first and the (b) second admission.
Figure 2
Figure 2
MRI images of case 2 (a) and case 3 (b).
See this image and copyright information in PMC

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