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Neuropediatrics 2022; 53(04): 301-302
DOI: 10.1055/a-1816-8605
Videos and Images in Neuropediatrics

RANBP2 Mutation Mimicking Viral Encephalitis

Luisa Averdunk 
1   Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany
,
Dirk Klee
2   Department of Pediatric Radiology, Medical Faculty, Institute of Radiology, Heinrich-Heine-University, Düsseldorf, Germany
,
Dagmar Wieczorek
3   Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany
,
Tobias B. Haack
4   Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
,
Felix Distelmaier 
1   Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany
› Author Affiliations Funding F.D. was supported by a grant of the German Research Foundation/Deutsche Forschungsgemeinschaft (DI 1731/2–2) and by a grant from the “Elterninitiative Kinderkrebsklinik e.V.” (Düsseldorf; #701900167). T.B.H. was supported by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – 418081722, 433158657.
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Case Summary

A 10-month-old boy presented with fever, vomiting, and treatment-refractory status epilepticus. Viral encephalitis was suspected, however, blood and cerebrospinal fluid tests as well as multiplex polymerase chain reaction for detection of respiratory viruses were unremarkable. Laboratory investigations including liver function parameters revealed no abnormalities. Brain magnetic resonance imaging showed multifocal T2-hyperintense cortical and subcortical lesions including both thalami ([Fig. 1]). Exome sequencing revealed a heterozygous mutation in RANBP2 (ENST00000283195.6: c.1754C > T,p.Thr585Met) causing acute necrotizing encephalopathy (ANE1).[1] [2] A second episode with fever-triggered encephalopathy occurred at the age of 12 months. Methylprednisolone therapy was initiated (20 mg/kg body weight per day for three consecutive days), leading to rapid clinical improvement (subsidence of seizures, vigilance improvement). The case underlines the importance of neurogenetic diseases as differential diagnosis in cases of suspected neuroinflammation.

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Fig. 1 Brain imaging in a child with acute necrotizing encephalopathy (ANE). (A) Brain magnetic resonance imaging (MRI) image (T2-weighted axial scans) at age 10 months demonstrating signal alterations affecting cortical/subcortical areas and thalamus. Of note, bilateral thalamic lesions are a characteristic feature of ANE (around two-thirds of patients). However, there is a broad range of additional (atypical) central nervous system (CNS) abnormalities, which have been reported in the literature.[3] (B) Follow-up MRI (T2-weighted) 1 ½ weeks later showing improvement with residual T2-hyperintensities (arrows). (C) Brain MRI (diffusion-weighted imaging [DWI]) during a second episode with encephalopathy at the age of 12 months showing multiple new signal alterations.


Publication History

Received: 01 February 2022

Accepted: 31 March 2022

Accepted Manuscript online:
05 April 2022

Article published online:
17 July 2022

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  • References

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