A child with four episodes of recurrent reversible splenial lesions without an MYRF variant

Haruna Mitsuya , Mitsuru Kashiwagi , Takuya Tanabe , Chizu Oba , Hirokazu Kurahashi , Akihisa Okumura , Akira Ashida
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Abstract

Background

Only a few cases of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) recur. The clinical findings of familial and/or MERS type 2 recurrent cases involving the myelin regulatory factor (MYRF) gene have recently been clarified, but it is unclear how the clinical findings of recurrent cases without an MYRF variant differ from those of cases with an MYRF pathogenic variant.

Case presentation

A 5-year-old girl with healthy parents and no previous developmental problems experienced four episodes of reversible splenial lesions. Each episode was observed with three to six recurrent seizures and persistent disturbance of consciousness. Based on magnetic resonance imaging (MRI) findings, the diagnosis was MERS type 2 in two episodes, MERS type 1 in one episode, and MERS type 2 lesions in one episode.

Discussion

Recurrent seizures, nonfamilial occurrence, recurrent lesions of different types, isolated splenial lesions in the corpus callosum (CC), and limited spread of white matter lesions were the characteristics of this case. Recurrent lesions of different types and lesions that do not always involve the entire CC or both genial and splenial lesions in the CC may characterize recurrent MERS cases without an MYRF variant. Further comparative investigations should be conducted with a larger number of patients to clarify the differences in clinical findings.
无MYRF变异的四次复发可逆性脾脏病变的儿童
背景:只有少数伴有可逆性脾损害的轻度脑炎/脑病(MERS)复发。涉及髓磷脂调节因子(MYRF)基因的家族性和/或MERS 2型复发病例的临床表现最近已得到澄清,但不清楚无MYRF变异的复发病例的临床表现与MYRF致病变异病例的临床表现有何不同。一例5岁女童,父母健康,既往无发育问题,经历4次可逆性脾损害。每次发作伴有3 ~ 6次反复发作和持续性意识障碍。根据磁共振成像(MRI)结果,诊断为MERS 2型2次,MERS 1型1次,MERS 2型病变1次。反复发作,非家族性发生,不同类型的反复病变,胼胝体(CC)孤立性脾病变,白质病变有限扩散是本病例的特点。不同类型的复发病变和不总是累及整个CC的病变,或CC的温和和脾脏病变都可能是MERS复发病例的特征,没有MYRF变异。进一步的比较研究需要在更多的患者中进行,以澄清临床表现的差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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