About: Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia

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About: Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia
Creator	Lee, Yun-Jeong Hwang, Su-Kyeong Kwon, Soonhak Lee, So
Source	Elsevier; Medline; PMC
abstract	Abstract Background Acute necrotizing encephalopathy (ANE) is a rare but rapidly progressing encephalopathy following a febrile illness, commonly a viral infection. It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. Although most ANE cases have occurred sporadically, familial or recurrent ANE has been reported in Caucasian patients, with genetic susceptibility to ANE noted in some patients due to a RANBP2 mutation. We report the cases of two Korean siblings with typical ANE and RANBP2 mutation. Case report A 2year-old Korean girl presented with prolonged seizures and encephalopathy after two days of febrile illness. Brain computed tomography (CT) showed diffuse brain swelling and low attenuation in the bilateral thalamus. Two months later, her younger sister presented with lethargy and flurries of seizures after a Mycoplasma pneumoniae infection. Brain magnetic resonance imaging scan (MRI) showed a characteristic involvement of the bilateral thalamus, suggesting ANE. Although they received intravenous steroids and immunoglobulin, the older child died; her sister remained in a coma. Both were diagnosed with familial ANE after identifying a common missense mutation in RANBP2 (c.1754C>T: p.Thr585Met) in the younger sister and their father. Conclusions This report is the first case of familial ANE in Northeast Asia identifying a RANBP2 mutation with poor outcome. Due to rapidly deterioration and recurrent nature of familial ANE, genetic test of RANBP2 mutation should be considered for early diagnosis. Further studies are needed to elucidate the nature of ANE.
has issue date	2017-08-31(xsd:dateTime)
bibo:doi	10.1016/j.braindev.2017.02.005
bibo:pmid	28336122
has license	els-covid
sha1sum (hex)	0f092f230e9389ba55f1715fdccb2f62837a9b80
schema:url	https://doi.org/10.1016/j.braindev.2017.02.005
resource representing a document's title	Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia
has PubMed Central identifier	PMC7127085
has PubMed identifier	28336122
schema:publication	Brain and Development
resource representing a document's body	covid:0f092f230e9389ba55f1715fdccb2f62837a9b80#body_text
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