An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.
Abnormalities, Multiple
/ genetics
Brain Diseases
/ complications
Child
Drug Resistant Epilepsy
/ complications
Ectodermal Dysplasia
/ complications
Facies
Failure to Thrive
/ complications
Heart Defects, Congenital
/ complications
Humans
Magnetic Resonance Imaging
/ methods
Male
Mutation
Proto-Oncogene Proteins B-raf
/ genetics
Acute encephalopathy
BRAF
Cardio-facio-cutaneous syndrome
Magnetic Resonance Imaging (MRI)
Journal
Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
02
05
2018
revised:
20
08
2018
accepted:
25
10
2018
pubmed:
12
11
2018
medline:
18
6
2019
entrez:
12
11
2018
Statut:
ppublish
Résumé
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. 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. The present case suggests that the hyperactive condition of ERK signals might augment the development of acute encephalopathy and post-encephalopathic epilepsy in childhood.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
The present case suggests that the hyperactive condition of ERK signals might augment the development of acute encephalopathy and post-encephalopathic epilepsy in childhood.
Identifiants
pubmed: 30414707
pii: S0387-7604(18)30187-6
doi: 10.1016/j.braindev.2018.10.012
pii:
doi:
Substances chimiques
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
378-381Informations de copyright
Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.