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
