An Unusual Case of Infantile Spasms Due to a Pathogenic Variant in the MECP2 Gene

Behshad Charkhand; Natarie Liu; Karlene T. Barrett; Walla Al-Hertani; Morris H. Scantlebury

doi:10.1055/s-0039-1683436

Journal of Pediatric Neurology, Inhaltsverzeichnis

Journal of Pediatric Neurology 2020; 18(01): 039-044
DOI: 10.1055/s-0039-1683436

Case Report

Georg Thieme Verlag KG Stuttgart · New York

An Unusual Case of Infantile Spasms Due to a Pathogenic Variant in the MECP2 Gene

Behshad Charkhand

¹Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

²Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada

,

Natarie Liu

³Department of Clinical Neurosciences, Cumming School of Medicine University of Calgary, Calgary, Alberta, Canada

,

Karlene T. Barrett

¹Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

²Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada

,

Walla Al-Hertani

¹Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

⁴Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

,

Morris H. Scantlebury

¹Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

²Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada

³Department of Clinical Neurosciences, Cumming School of Medicine University of Calgary, Calgary, Alberta, Canada

› Institutsangaben

Abstract

The infantile spasms (IS) syndrome is a developmental epileptic encephalopathy disorder characterized by epileptic spasms occurring in infancy, hypsarrhythmia on the electroencephalography (EEG) and developmental arrest or regression. The etiologies include structural, metabolic, and genetic causes. We report an unusual case of IS due to a de novo variant in the MECP2 gene. The patient also had variants of uncertain significance in the SCN9A and SCN5A genes inherited from the father and mother, respectively. This report highlights the need for broad genetic testing in MECP2-related disorders with atypical presentations to better understand the disease etiology.

Keywords

epileptic encephalopathy - Rett's syndrome - cardiomyopathy

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Referenzen

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