An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome

Sayaka Okuzono, Ryoko Fukai, Marie Noda, Noriko Miyake, Sooyoung Lee, Noriyuki Kaku, Masafumi Sanefuji, Satoshi Akamine, Shunsuke Kanno, Yoshito Ishizaki, Hiroyuki Torisu, Ryutaro Kira, Naomichi Matsumoto, Yasunari Sakai, Shoichi Ohga

Research output: Contribution to journalArticle

Abstract

Background: Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS. While this molecular pathway is known to be associated with neuro-inflammatory conditions, only one case with CFCS has been reported thus far to develop acute encephalopathy in childhood. Case report: A 3-year-old boy with dysmorphic features and mild psychomotor delay developed acute encephalopathy. After a 45-min long, generalized seizure, the magnetic resonance imaging revealed that the restricted diffusion signals spread to the bilateral subcortical white matters on day 1 of illness. Despite the 14 days of intensive care, the acute symptoms of encephalopathy left him intractable epilepsy and severe neurocognitive impairments. The whole-exome sequencing analysis identified a de novo heterozygous mutation of BRAF (NM_004333:p.Thr241Met) in this case. Conclusion: The present case suggests that the hyperactive condition of ERK signals might augment the development of acute encephalopathy and post-encephalopathic epilepsy in childhood.

Original languageEnglish
Pages (from-to)378-381
Number of pages4
JournalBrain and Development
Volume41
Issue number4
DOIs
Publication statusPublished - Apr 1 2019

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Brain Diseases
Exome
Mutation
Inborn Genetic Diseases
Sick Leave
Critical Care
Epilepsy
Seizures
Magnetic Resonance Imaging
Cardiofaciocutaneous syndrome
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome. / Okuzono, Sayaka; Fukai, Ryoko; Noda, Marie; Miyake, Noriko; Lee, Sooyoung; Kaku, Noriyuki; Sanefuji, Masafumi; Akamine, Satoshi; Kanno, Shunsuke; Ishizaki, Yoshito; Torisu, Hiroyuki; Kira, Ryutaro; Matsumoto, Naomichi; Sakai, Yasunari; Ohga, Shoichi.

In: Brain and Development, Vol. 41, No. 4, 01.04.2019, p. 378-381.

Research output: Contribution to journalArticle

Okuzono, S, Fukai, R, Noda, M, Miyake, N, Lee, S, Kaku, N, Sanefuji, M, Akamine, S, Kanno, S, Ishizaki, Y, Torisu, H, Kira, R, Matsumoto, N, Sakai, Y & Ohga, S 2019, 'An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome', Brain and Development, vol. 41, no. 4, pp. 378-381. https://doi.org/10.1016/j.braindev.2018.10.012
Okuzono, Sayaka ; Fukai, Ryoko ; Noda, Marie ; Miyake, Noriko ; Lee, Sooyoung ; Kaku, Noriyuki ; Sanefuji, Masafumi ; Akamine, Satoshi ; Kanno, Shunsuke ; Ishizaki, Yoshito ; Torisu, Hiroyuki ; Kira, Ryutaro ; Matsumoto, Naomichi ; Sakai, Yasunari ; Ohga, Shoichi. / An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome. In: Brain and Development. 2019 ; Vol. 41, No. 4. pp. 378-381.
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