RT Journal Article
SR Electronic
T1 Inherited CD59 deficiency, where neurology and genetics intertwine
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 130
OP 135
DO 10.17712/nsj.2023.2.20220119
VO 28
IS 2
A1 Lateefa M. Almutawea
A1 Amani A. Al Hajeri
A1 Eman M. Farid
A1 Maryam Y. Bushail
A1 Ayman K. Ali
YR 2023
UL http://nsj.org.sa/content/28/2/130.abstract
AB Objectives: To describe the clinical phenotype of eight children diagnosed with CD59 deficiency and their ultimate neurological outcome.Methods: The data of our cases were extensively reviewed both clinical and ancillary tests; investigations included: neuroimaging, neurophysiological studies, and laboratory tests.Results: All patients presented during early infancy with Guillain-Barre syndrome later they suffered repeated relapses leading to the diagnosis of chronic axonal neuropathy. Recurrent stroke and acute necrotizing encephalopathy were described, 2 patients in each group. One girl developed acute disseminated encephalomyelitis while one boy developed acute transverse myelitis. Overt hemolytic anemia requiring blood transfusion reported in six patients.Conclusion: Inherited CD59 deficiency is an autosomal recessive disorder which can have devastating neurological consequences. First line immunotherapy including intravenous immunoglobin, corticosteroids, and plasma exchange may have transient beneficial effect. Reports of targeted therapy with eculizumab might be lifesaving. Genetic counseling is crucial.