Researchers from Uganda presented the cases of a mother and her daughter with neuromyelitis optica spectrum disorder (NMOSD) and different clinical features. 

“We add to existing literature and hypothesize that NMOSD appears to show a complex genetic background,” the researchers wrote. “To our knowledge, this is the first report in Sub-Saharan Africa, of familial AQP4-IgG positive NMOSD presenting with clinical heterogeneity between first degree relatives.”

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The study is published in the journal BMC Neurology.

The cases are that of a 54-year-old Ugandan female who was HIV positive and her child, a 35-year-old female who was HIV negative. Both women were diagnosed with aquaporin-4 (AQP4) antibody-positive NMOSD. 

The mother was being treated with tenofovir, lamivudine, and dolutegravir HAART regimen for viral suppression.

She presented to the hospital with progressive quadriparesis and urinary incontinence. She underwent magnetic resonance imaging (MRI) and blood tests, which revealed gadolinium-enhancing longitudinally extensive transverse myelitis and the presence of antiAQP4 immunoglobulin G (IgG). 

She was treated with 1 g of intravenous methylprednisone daily for 3 days and with continued tapering doses of oral prednisone and maintenance doses of azathioprine, which led to slow improvements in her limb motor function. 

Her daughter had no known comorbidities or previous autoimmune disease. 

She presented with a 7-month history of vision loss in both eyes, 1 year before her mother. MRI revealed bilateral optic neuritis, and blood tests identified antiAQP4-IgG. She was treated with tapered doses of oral prednisone, which stabilized her condition. The authors reported that she continues on oral azathioprine, which led to moderate improvement in her vision, and that she has not had any relapses so far.

NMOSD is a rare autoimmune inflammatory disease of the central nervous system characterized by severe relapses of optic neuritis and myelitis. Most patients with the disease are positive for antiAQP4 IGg.


Ssemmanda S, Musubire AK. Different clinical phenotypes of AQP4-IgG positive NMOSD in two first degree relatives. BMC Neurol. Published online September 4, 2023. doi:10.1186/s12883-023-03366-5