Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy

Mohamad Paktinat; Kamran Hessami; Soroor Inaloo; Hamid Nemati; Pegah Katibeh; Marzieh Nejabat; Mohammad Hassan Darabi; Ali Hosseini Bereshneh

doi:10.1155/2021/6695119

Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy

Int J Pediatr. 2021 Mar 13:2021:6695119. doi: 10.1155/2021/6695119. eCollection 2021.

Authors

Mohamad Paktinat¹, Kamran Hessami^{2

3}, Soroor Inaloo¹, Hamid Nemati¹, Pegah Katibeh¹, Marzieh Nejabat¹, Mohammad Hassan Darabi², Ali Hosseini Bereshneh⁴

Affiliations

¹ Neonatology Research Center, Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
² Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
³ Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁴ Prenatal Diagnosis and Genetic Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

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.