Early-onset chronic axonal neuropathy, strokes, and hemolysis

Abstract

We added to the knowledge base about inherited CD59 deficiency.

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

“…Neonatal hyperbilirubinemia and phototherapy can also be a clue. 11 Recurrent ischemic and hemorrhagic CNS strokes were reported in previous cases with inherited CD59 deficiency with similar mechanisms to PNH. In our patient, brain MRI was performed during diagnostic workup.…”

“…6 Recently; we reported another CD59 mutation (p.Asp49Val) in three Turkish patients from a two-generation family with severe peripheral neuropathy, chronic hemolysis, and multiple ischemic and hemorrhagic infarcts. 11 Variable presentations including bulbar symptoms, cranial nerve palsies, and focal seizures are also described.…”

Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency

“…Inherited CD59 deficiency is a rare autosomal recessive disorder characterized by chronic subclinical Coombs-negative hemolysis, early-onset recurrent peripheral neuropathy resembling Guillain-Barré syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP), and recurrent strokes. 2,3 Indeed, we previously described a patient who had been followed-up as CIDP-like disease and multiple CNS infarcts, and a series where three patients from two generations were affected by polyneuropathy and multiple CNS infarcts. 1 Primary involvement of the CNS parenchyma is rare and has been reported in one family from Turkey where two siblings, one with acute disseminated encephalomyelitis (ADEM)-like demyelinating disease in the CNS and the other with subclinical peripheral neuropathy, were diagnosed by whole exome sequencing.…”

“…Inborn errors of immunity can cause neurological diseases affecting the central and peripheral nervous systems: in inherited CD59 deficiency, these have been reported as strokes and peripheral neuropathy. [1][2][3] We present a patient with relapsing central nervous system (CNS) inflammatory disorder diagnosed as inherited CD59 deficiency on his fourth hospital-ization and benefited from fresh frozen plasma (FFP) until eculizumab was started.…”

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

“…After the description of the pathogenic CD59 mutation p.Cys58Tyr 9 , other CD59 mutations have been described. In 2015, an homozygous missense mutation (p.Asp49Val) was reported to be pathogenic in three Turkish patients from a two-generation family with immune-mediated peripheral neuropathy, chronic hemolysis and strokes 15 . Recently, a frameshift deletion in CD59 (c.146delA, pAsp49Valfs*31) has been described in a 7-year-old girl with a demyelinating polyneuropathy and cerebral vasculopathy 14 .…”