RESUMO
INTRODUCTION: PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features. METHODS: Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of the PLA2G6 gene. We analysed chronological evolution in terms of age at onset and disease course through a 66-item questionnaire. We performed qualitative and quantitative assessment of MRI abnormalities and searched for clinical and radiological phenotype and genotype correlations. RESULTS: Sixteen PLAN patients (mean age: 10.2 years, range 3-33) were evaluated, with a median onset (years) of signs/symptoms as follows: neurological regression (1.5), oculomotor abnormalities (1.5), hypotonia (1.8), gait loss (2.2), pyramidal signs (3.0), axonal neuropathy (3.0), dysphagia (4.0), optic atrophy (4.0), psychiatric symptoms (4.0), seizures (5.9), joint contractures (6.0), dystonia (8.0), bladder dysfunction (13.0) and parkinsonism (15.0). MRI assessment identified cerebellar atrophy (19/19), brain iron deposition (10/19), clava hypertrophy (8/19) and T2/FLAIR hyperintensity of the cerebellar cortex (6/19). The mid-sagittal vermis relative diameter (MVRD) correlated with age at onset of clinical variants, meaning that the earlier the onset, the more severe the cerebellar atrophy. All patients harboured missense, nonsense and frameshift mutations in PLA2G6, including four novel variants. CONCLUSIONS: Cerebellar atrophy was a universal radiological sign in infantile and childhood onset PLAN, and correlated with the severity of the phenotype. Iron accumulation within the globus pallidum and substantia nigra was also a common and strikingly uniform feature regardless of the phenotype.
Assuntos
Cerebelo/patologia , Globo Pálido/metabolismo , Distrofias Neuroaxonais/patologia , Distrofias Neuroaxonais/fisiopatologia , Substância Negra/metabolismo , Adolescente , Adulto , Idade de Início , Atrofia/patologia , Cerebelo/diagnóstico por imagem , Criança , Pré-Escolar , Estudos Transversais , Globo Pálido/diagnóstico por imagem , Fosfolipases A2 do Grupo VI/genética , Humanos , Imageamento por Ressonância Magnética , Distrofias Neuroaxonais/diagnóstico por imagem , Fenótipo , Índice de Gravidade de Doença , Substância Negra/diagnóstico por imagem , Adulto JovemRESUMO
Several types of contaminants have been reported in cytopathology. The purpose of this study was to show unusual contaminants in cytological smears, such as freshwater microorganisms and other arthropods. In different routine Papanicolaou smears (sputum, cervicovaginal, and voided urine) we mainly found fragments of mites and insects, caused by an intrinsic contamination of the samples or an extrinsic contamination of the smears.