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Neuropediatrics 2020; 51(03): 206-210
DOI: 10.1055/s-0039-3399583
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency

Ismail Solmaz
1   Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
,
Elif Soyak Aytekin
2   Department of Pediatric Immunology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
,
Deniz Çağdaş
2   Department of Pediatric Immunology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
,
Cagman Tan
2   Department of Pediatric Immunology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
,
Ilhan Tezcan
2   Department of Pediatric Immunology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
,
Rahsan Gocmen
3   Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
,
Goknur Haliloglu
1   Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
,
Banu Anlar
1   Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
› Author Affiliations
Further Information

Publication History

21 July 2019

20 September 2019

Publication Date:
21 November 2019 (online)

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Abstract

Defects in the regulatory components of the complement system can lead to inflammatory diseases. We present a patient who had four episodes of demyelination in the central nervous system as the only manifestation of inherited CD59 deficiency. Relapsing encephalopathy partially responsive to intravenous immunoglobulin and steroid treatments on the background of parental consanguinity suggested an inherited immune dysregulation. Next generation sequencing revealed homozygous mutation in the CD59 gene, confirmed by lack of CD59 expression on flow cytometry. Inherited CD59 deficiency is a rare autosomal recessive condition characterized by chronic hemolysis, recurrent strokes, and relapsing peripheral demyelinating neuropathy mimicking Guillain–Barré syndrome or chronic inflammatory demyelinating polyneuropathy. Recurrent central nervous system demyelinating episodes as the only manifestation has not been reported to date in inherited CD59 deficiency. This entity should be considered in the differential diagnosis of patients with early-onset recurrent neurological diseases with central or peripheral origin.

Keywords

immune dysregulation - CD59 deficiency - acute disseminated encephalomyelitis - multiphasic disseminated encephalomyelitis
 

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