ABSTRACT
The aim of this study was to analyze the HLA class II alleles in neuromyelitis optica (NMO) and MS patients from Rio de Janeiro to clarify whether the pattern of genetic predisposition in NMO is different from the one seen in MS or whether it is possible to determine specific alleles of susceptibility or resistance. The DR3 haplotype was over represented in NMO while the DR15 was over represented in MS. The HLA-DRB1*03:01 allele was associated with NMO regardless the NMO-IgG status but did not influence the long term disability. The comparison of the allele and haplotype frequencies significantly discriminated patients with NMO vs. MS.
Subject(s)
HLA-DRB1 Chains/genetics , Immunoglobulin G/metabolism , Multiple Sclerosis/genetics , Multiple Sclerosis/immunology , Neuromyelitis Optica/genetics , Neuromyelitis Optica/immunology , Adolescent , Adult , Aged , Brazil , Case-Control Studies , Child , DNA Mutational Analysis , Female , Genotype , HLA-DQ alpha-Chains/genetics , HLA-DQ beta-Chains/genetics , HLA-DQ beta-Chains/metabolism , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Multiple Sclerosis/diagnostic imaging , Neuromyelitis Optica/diagnostic imaging , Phenotype , Severity of Illness Index , Young AdultABSTRACT
OBJECTIVES: To report the clinical features and outcome of 24 Brazilian patients with optic neuromyelitis syndrome (ONM); discuss the underlying pathological events associated with the ONM syndrome; review the nosological situation of ONM in the group of inflammatory and demyelinating diseases of the central nervous system. PATIENTS AND METHODS: Patients with ONM treated at the Hospital da Lagoa, Rio de Janeiro were studied. Demographic, clinical, magnetic resonance imaging, cerebrospinal fluid, and pathological data were analysed. RESULTS: The study consisted of 20 women, four men of whom 10 were white and 14 Afro-Brazilians. Clinical course was recurrent in 22 cases and monophasic in two. Neurological manifestations at inclusion were: sensory impairment (66%), bilateral (41.6%) or unilateral blindness (20.8%), paraplegia or quadriplegia (37.5%). The EDSS was moderate/severe in 70.8%. The underlying pathological events were respectively pulmonary tuberculosis and upper respiratory infection in the two monophasic cases; in the 22 recurrent ONM patients: pulmonary tuberculosis (3), neurocysticercosis (1), polyarteritis nodosa (1), antinuclear antibody and rheumatoid factor (1), antiphospholipid antibody primary syndrome (1), diabetes mellitus (1), hypothyroidism (1), and amenorrhea-galactorrhea (4). Normal cerebrospinal fluid was found in 52% and an inflammatory profile in 48%. Only four recurrent ONM white patients had brain and spinal cord magnetic resonance imaging and cerebrospinal fluid findings compatible with the diagnosis of multiple sclerosis. Large lesions were seen in 62% of spinal magnetic resonance images. Six of 12 recurrent ONM Afro-Brazilian died. There were no statistical differences in the demographic data of the two ethnic groups. Afro-Brazilians were significantly more severely impaired and had a higher mortality rate than the white patients. CONCLUSION: These cases were classified as follows: two monophasic acute disseminated encephalomyelitis; one recurrent disseminated encephalomyelitis; three recurrent ONM associated with Hughes syndrome, autoantibodies and polyarteritis nodosa; six recurrent ONM with endocrinopathies; and finally, four multiple sclerosis cases. The remaining cases were not associated with any other condition. It would seem clear that ONM is a syndrome rather than a single disease.
Subject(s)
Neuromyelitis Optica/diagnosis , Neuromyelitis Optica/epidemiology , Adult , Albumins/metabolism , Anal Canal/physiopathology , Brain/pathology , Brain/physiopathology , Brazil/epidemiology , Catchment Area, Health , Fecal Incontinence/epidemiology , Fecal Incontinence/physiopathology , Female , Humans , Immunoglobulin G/blood , Immunoglobulin G/cerebrospinal fluid , Magnetic Resonance Imaging , Male , Neuromyelitis Optica/physiopathology , Optic Nerve/pathology , Prospective Studies , Sensation Disorders/epidemiology , Spinal Cord/pathology , Urinary Bladder/physiopathology , Urinary Incontinence/epidemiologyABSTRACT
A síndrome de Shy-Drager é uma doença degenerativa do sistema nervoso central, de etiologia desconhecida, caracterizada por falência progressiva do sistema autonômico e atrofia de múltiplos sistemas. É relatado o caso de uma paciente do sexo feminino que aos 41 anos de idade foi estabelecido o diagnóstico de síndrome de Shy-Drager. Provas funcionais autônomas, exames laboratoriais e exame físico, principalmente minucioso exame neurológico, evidenciaram claramente a falência do sistema nervoso autônomo e sinais de atrofia multissistematizada. Seräo ressaltados aspectos clínicos-evolutivos que caracterizaram os 8 anos da enfermidade, de investigaçäo da funçäo autonômica e de diagnóstico diferencial - já que a doença foi confundida durante a fase inicial com outras enfermidades sistêmicas e do sistema nervoso
Subject(s)
Humans , Female , Adult , Shy-Drager Syndrome , Diagnosis, Differential , Autonomic Nervous System Diseases/physiopathologyABSTRACT
A sindrome de Shy-Drager e uma doenca degenerativa do sistema nervoso central, de etiologia desconhecida, caracterizada por falencia progressiva do sistema autonomo e atrofia de multiplos sistemas. E relatado o caso de uma paciente do sexo feminino que aos 41 anos de idade foi estabelecido o diagnostico de sindrome de Shy-Drager: Provas funcionais autonomas, exames laboratoriais e exame fisico, principalmente minucioso exame neurologico, evidnciaram claramente a falencia do sistema nervoso autonomo e sinais de atrofia multissistematizada. Serao ressaltados aspectos clinicos-evolutivos que caracterizaram os 8 anos da enfermidade, de investigacao da funcao autonomica e de diagnostico diferencial-ja que a doenca foi confundida durante a fase inicial com outras enfermidades sistemicas e do sistema nervoso.
Subject(s)
Shy-Drager Syndrome , Autonomic Nervous System Diseases , Diagnosis, Differential , Case Reports , Humans , Adult , Autonomic Nervous System Diseases , Diagnosis, Differential , Humans , AdultABSTRACT
Os autores dissertam sobre as manifestacoes clinicas da esclerose multipla a partir de revisao historia dos trabalhos originais de Jean Martin Charcot e seus discipulos que, na segunda metade do seculo passado, descreveram as bases de diagnostico clinico desta enfermidade. Apresentam simula das principais investigacoes epidemiologicas que demonstram uma distribuicao geografica unica, com areas de alta prevalencia nos paises frios do hemisferio norte e tem contribuido para o conhecimento da evolucao natural desta doenca cronica do SNC. Finalmente apresentam a metodologia de analise clinica proposta por Kurtzke atraves do FS/EDSS e os protocolos de estudo criados com o objetivo de estabelecer procedimentos uniformes de diagnosticos clinico com especial enfase ao de Poser, 1983, que vem sendo adotado nas pesquisas clinicas realizadas no Brasil.
Subject(s)
Multiple Sclerosis , Natural History of Diseases , Multiple Sclerosis , Natural History of DiseasesABSTRACT
Four typical cases of the Miller Fisher syndrome with external ophthalmoplegia, ataxia and generalized areflexia but no muscular weakness or sensory impairment of the limbs are reported. The nosological position of this disorder is reviewed.
