Neuropediatrics 2017; 48(06): 477-481
DOI: 10.1055/s-0037-1604483
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Neonatal-Onset Recurrent Guillain–Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

Didem Ardicli1, Ekim Z. Taskiran2, Can Kosukcu2, Cagri Temucin3, Kader K. Oguz4, Goknur Haliloglu1, Mehmet Alikasifoglu2, Haluk Topaloglu1
  • 1Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
  • 2Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
  • 3Department of Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
  • 4Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Further Information

Publication History

22 March 2017

19 June 2017

Publication Date:
11 August 2017 (eFirst)

Abstract

Inherited CD59 deficiency is a rare autosomal recessive disorder characterized by chronic hemolysis, recurrent ischemic central nervous system strokes, and early-onset relapsing peripheral demyelinating neuropathy mimicking recurrent Guillain–Barré syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP). We report a 7-year-old girl who presented with neonatal-onset relapsing weakness accompanied by diffuse sensory-motor demyelinating peripheral polyneuropathy. She was diagnosed as having a CIDP-like disease and partially responded to immunomodulatory treatments. Cranial magnetic resonance imaging showed multiphasic brainstem and cerebellar ischemic lesions consistent with vasculopathy and chronic left middle cerebral artery infarction. Whole exome sequencing (WES) analysis revealed a frameshift deletion in CD59 (c.146delA, p.Asp49Valfs*31). Inherited CD59 deficiency should be considered in the differential diagnosis of patients with early-onset severe neurologic symptoms even without an overt hemolysis. We would like to highlight the role of WES in the diagnosis of a condition with a targeted therapy.

Funding

This work was supported by the Hacettepe University (TAY-2015–7335).


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