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- W3181859983 abstract "Introduction. Evidence of familial neuromyelitis optica spectrum disorder (NMOSD) have been limited, reported to comprised of 3% of total cases (Matiello et al., 2010). We report a case series of possible familial NMOSD involving only 1 generation, namely 3 out of the 6 female siblings. Results. All 3 patients were female Malaysian Chinese with age of disease onset of 39, 56, and 57 years respectively. Two of them demonstrated AQP4 seropositivity while one passed away without being tested. Their presenting features were optic neuritis (ON) plus transverse myelitis (TM) in Patient 1 and TM in both Patient 2 and Patient 3. Subsequent relapses involved both ON and TM over years. They demonstrated relapsing disease course with annualized relapse rates of 0.67, 0.55 and 0.20 respectively. Both Patient 2 and Patient 3 demonstrated longitudinally extensive transverse myelitis on spinal MRI with normal MRI brain. Apart from serum anti-Ro positivity hence Sjogren’s Syndrome in Patient 3, comprehensive workups for other aetiologies of myelitis were negative. Both Patient 2 and Patient 3 responded well with intravenous methylprednisolone (IVMP) during acute attacks/relapses, followed by long term maintenance therapy of prednisolone plus Mycophenolate Mofetil (MMF). Patient 3 received 1 cycle of add-on therapeutic plasma exchange once during a relapse with severe LETM. During the last follow-up, (i) Patient 1 demonstrated right eye blindness, (ii) Patient 2 demonstrated impaired colour vision of right eye, and (iii) Expanded Disability Status Scale was 1 in all 3 patients. Both Patient 2 and Patient 3 fulfilled the 2015 international consensus diagnostic criteria for NMOSD. Patient 1 passed away in 1989 without undergoing detailed para-clinical and neuroimaging investigations. Conclusion. Familial NMOSD may still be recognized despite an onset within the same generation with heterogenous phenotypic presentations, provided fulfilment of the international consensus diagnostic criteria." @default.
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- W3181859983 date "2021-08-01" @default.
- W3181859983 modified "2023-09-25" @default.
- W3181859983 title "P-OT003. A case series of familial neuromyelitis optica spectrum disorder (NMOSD)" @default.
- W3181859983 doi "https://doi.org/10.1016/j.clinph.2021.02.304" @default.
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