Browsing by Author "Nzwalo, H"
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- Caucasian Familial Moyamoya Syndrome With Rare Multisystemic MalformationsPublication . Nzwalo, H; Santos, V; Gradil, C; Vieira, JP; Mendonça, CMoyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.
- Neuromyelitis Optica Spectrum Disorders: a Nationwide Portuguese Clinical Epidemiological StudyPublication . Santos, E; Rocha, AL; Oliveira, V; Ferro, D; Samões, R; Sousa, AP; Figueiroa, S; Mendonça, T; Abreu, P; Guimarães, J; Sousa, R; Melo, C; Correia, I; Durães, J; Sousa, L; Ferreira, J; Sá, J; Sousa, F; Sequeira, M; Correia, AS; André, AL; Basílio, C; Arenga, M; Mendes, I; Brás Marques, I; Perdigão, S; Felgueiras, H; Alves, I; Correia, F; Barroso, C; Morganho, A; Carmona, C; Palavra, F; Santos, M; Salgado, V; Palos, A; Nzwalo, H; Timóteo, A; Guerreiro, R; Isidoro, L; Boleixa, D; Carneiro, P; Neves, E; Martins Silva, A; Gonçalves, G; Leite, MI; Sá, MJIntroduction: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. Objective: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. Methods: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients were included. Results: A total of 180 patients met the 2015 Wingerchuk NMOSD criteria, 77 were AQP4-antibody positive (Abs+), 67 MOG-Abs+, and 36 seronegative. Point prevalence on December 31, 2018 was 1.71/100,000 for NMOSD, 0.71/100,000 for AQP4-Abs+, 0.65/100,000 for MOG-Abs+, and 0.35/100,000 for seronegative NMOSD. A total of 44 new NMOSD cases were identified during the two-year study period (11 AQP4-Abs+, 27 MOG-Abs+, and 6 seronegative). The annual incidence rate in that period was 0.21/100,000 person-years for NMOSD, 0.05/100,000 for AQP4-Abs+, 0.13/100,000 for MOG-Abs+, and 0.03/100,000 for seronegative NMOSD. AQP4-Abs+ predominated in females and was associated with autoimmune disorders. Frequently presented with myelitis. Area postrema syndrome was exclusive of this subtype, and associated with higher morbidity/mortality than other forms of NMOSD. MOG-Ab+ more often presented with optic neuritis, required less immunosuppression, and had better outcome. Conclusion: Epidemiological/clinical NMOSD profiles in the Portuguese population are similar to other European countries.