Format

Send to

Choose Destination
Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007. Epub 2016 Feb 26.

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Author information

1
Klinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany. Electronic address: Katharina.Sell@uniklinikum-dresden.de.
2
Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.
3
Institut und Poliklinik für Radiologische Diagnostik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.
4
Klinische Forschung, Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.
5
Child Neurology, Epilepsy, University Children's Hospital Zurich, Zurich, Switzerland.
6
Klinik für Neurologie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.
7
Cincinnati Children's Hospital, Medical Center, OH, USA.
8
Zentrum für Humangenetik und Institut für Humangenetik der Universität Regensburg, Germany.

Abstract

Acute necrotizing encephalopathy (ANE) is a rare disease presenting with rapidly progressing encephalopathy. It usually occurs in otherwise healthy children after common viral infections. The hallmarks of ANE are the neuroradiological findings of multiple symmetric lesions in the thalami, midbrain, pons and brainstem. Most cases are sporadic and non recurrent. However, recurrent or familial forms of ANE due to mutations in RANBP2 gene have been reported. It has been suggested to give these cases the term ANE1. We report the clinical course in two male infants (P1, P2) with ANE1 and a variable clinical course and outcome. One patient is heterozygous for the most common RANBP2 missense mutation p.Thr585Met. In the other patient we observed a novel de novo missense mutation p.Trp681Cys in the RANBP2 gene causing recurrent ANE. Clinical and radiological features are presented and differential diagnoses are discussed. This report adds to the current knowledge of the phenotype in ANE, caused by mutations in RANBP2 gene.

KEYWORDS:

ANE; ANE1; Acute necrotizing encephalopathy; Encephalopathy; IIAE3; RANBP2

PMID:
26923722
DOI:
10.1016/j.braindev.2016.02.007
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center