Neurological Involvement in a Portuguese Cohort of IgG4-Related Disease.

INTRODUCTION: Neurological involvement in immunoglobulin G4-related disease (IgG4-RD) is increasingly recognized. Its diagnosis can be challenging due to clinical mimics and difficulty in obtaining nervous system biopsies. The aim of this study was to describe a cohort of neurological IgG4-RD patients. METHODS: Patients were recruited from a neuroimmunology tertiary center. Clinical, laboratory, neuroimaging and histological data were reviewed. RESULTS: Fifteen patients (60% women), with a median age of 53 years (48.5 - 65.0) were included: 13 (86.7%) classified as possible IgG4-RD, one (6.7%) as probable and one (6.7%) as definitive. The most common neurological phenotypes were meningoencephalitis (26.7%), orbital pseudotumor (13.3%), cranial neuropathies (13.3%), peripheral neuropathy (13.3%), and longitudinally extensive transverse myelitis (LTEM) (13.3%). Median serum IgG4 concentration was 191.5 (145.0 - 212.0) mg/dL. Seven in 14 patients had CSF pleocytosis (50.0%) and oligoclonal bands restricted to the intrathecal compartment, while most cases presented elevated CSF proteins (64.3%). Magnetic resonance imaging abnormalities included white matter lesions in four (26.7%), hypertrophic pachymeningitis in two (13.3%), and LETM in two (13.3%). Two patients had biopsy-proven IgG4-RD in extra-neurological sites. CONCLUSION: This study highlights the phenotypical variability of the neurological IgG4-RD. Biopsy inaccessibility reinforces the importance of new criteria for the diagnosis of this subset of patients.

Brain imaging findings in CLCN2-related leukoencephalopathy.

CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. With only 31 cases published in the literature, its precise pathophysiology is uncertain, clinical manifestations are nonspecific and little is known in terms of prognosis. Neuroimaging plays a fundamental role in the identification of CLCN2-related leukoencephalopathy, which has a typical magnetic resonance imaging pattern that, when recognized, should promote proper genetic study for diagnostic confirmation. We report a paediatric clinical case of CLCN2-related leukoencephalopathy with genetically verified c.1709G > A p(Trp570*) mutation, highlighting typical neuroimaging findings and the importance of imaging in the diagnostic approach.

Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.

Liberfarb syndrome is an extremely rare mitochondrial multisystem disorder, recently described and characterized by early-onset retinal degeneration and sensorineural hearing loss, spondyloepimetaphyseal dysplasia, joint laxity, short stature, microcephaly, developmental delay and intellectual disability, but clinical variability has been observed. We report a case that presented to the hospital with a flare-up of the disease. We describe the brain magnetic resonance imaging findings, which are still not well characterized, to raise awareness of this diagnosis.

Periodontoid Pseudotumor in Tuberous Sclerosis Associated With Neck Diffuse Lipomatosis.

Tuberous sclerosis (TS) is a genetic multisystem disorder associated with the development of benign tumors in many organs. Diffuse lipomatosis, which represents the overgrowth of fatty tissue in one part of the body, is a very rare finding reported in patients with tuberous sclerosis. We describe the case of a patient with diffuse lipomatosis in the right scapular, posterior cervical and perivertebral regions, associated with a space-occupying lesion adjacent to the odontoid process of C2 that appeared to be a pseudotumor, and discuss possible relation between these entities.

Prevalência de traço falciforme em doadores de sangue da região Centro-Oeste do Estado de Minas Gerais / Prevalence of sickle cell trait in blood donors in the Midwest region of the State of Minas Gerais

Introdução: Apesar do traço falciforme ser considerado uma condição benigna, existem estudos mostrando que apresenta manifestações clínicas relevantes, o que torna importante a realização de estudos para conhecer sua prevalência. Objetivo: Estimar a prevalência de traço falciforme em doadores de sangue da região Centro-Oeste do estado de Minas Gerais (MG). Metodologia: As informações sobre a presença de HbS no sangue, etnia, gênero, escolaridade, idade, níveis de hemoglobina e procedência dos doadores de sangue foram consultadas no sistema Hemote Plus da Fundação Hemominas (FH). Resultados: A média de idade dos doadores de sangue da região Centro-Oeste de MG foi de 34,4±11,3 anos, 51,4% eram do sexo masculino, 52,8% se autodeclararam brancos, 53,3% possuíam até 2º grau completo e a média dos níveis de hemoglobina foi de 15,1±1,3 g/dL. A prevalência de traço falciforme foi de 2,2% nessa população. Entre os doadores portadores do traço falciforme houve maior frequência de autodeclarados pardos, seguidos de autodeclarados brancos (30,7%) e autodeclarados negros (26,5%), as faixas etárias de 21 a 30 anos (31,9%) e de 31 a 40 anos (30,7%) e o sexo feminino (53,9%) foram mais prevalentes e a média dos níveis de hemoglobina foi de 14,8±1,3 g/dL. Conclusão: A prevalência de traço falciforme encontrada em nosso estudo foi de 2,2%, o que se assemelha à encontrada na população brasileira e é discretamente menor que a do Estado de MG. Esses achados contribuem com os demais estudos de prevalência no Brasil.

Introduction: Although sickle cell trait is considered a benign condition, there are studies showing that it presents relevant clinical manifestations, which makes it important to carry out studies to know its prevalence. Objective: To estimate the prevalence of sickle cell trait in blood donors in the Midwest region of the state of Minas Gerais (MG). Methods: Information on the presence of HbS in the blood, ethnicity, gender, education, age, hemoglobin levels and origin of blood donors were consulted in the Hemote Plus system of the Hemominas Foundation (FH). Results: The mean age of blood donors in the Midwest region of MG was 34.4±11.3 years, 51.4% were male, 52.8% self-declared white, 53.3% had up to high school and the mean hemoglobin levels were 15.1±1.3g/dL. The prevalence of sickle cell trait was 2.2% in this population. Among the donors with sickle cell trait, there was a higher frequency of self-declared brown, followed by self-declared white (30.7%) and self-declared black (26.5%), aged 21 to 30 years (31.9%) and 31 to 40 years (30.7%) and females (53.9%) were more prevalent and the mean hemoglobin levels were 14.8±1.3 g/dL. Conclusion: The prevalence of sickle cell trait found in our study was 2.2%, which is similar to that found in the Brazilian population and is slightly lower than in the state of MG. These findings contribute to other prevalence studies in Brazil.

Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria.

L-2-hydroxiglutaric aciduria (L2HGA) is a rare, childhood-onset, organic aciduria, with characteristic clinical (cerebellar ataxia) and neuroimaging (subcortical leukodystrophy) features. Movement disorders in this condition are usually of hyperkinetic type. Herein is reported the case of two adult siblings with recent L2HGA diagnosis, presenting with dopa-responsive parkinsonism and MRI iron deposition.

Atividade física de mães e de escolares com excesso de peso e obesidade / Physical activity of mothers and schoolchildren with weight excess and obesity

OBJETIVO: Verificar a prática de atividade física de mães e de escolares com excesso de peso ou obesidade da maior escola pública da América Latina localizada em Florianópolis - SC. MÉTODO: Tratou-se de um estudo transversal com 214 participantes, sendo 107 escolares e suas respectivas mães. As variáveis utilizadas foram: o IMC de ambos, que avaliou a obesidade e o excesso de peso, além das oriundas dos instrumentos que verificaram o nível de atividade física de mães e filhos (IPAC curto e DAFA). Para análise dos dados utilizou-se estatística descritiva. RESULTADOS: Identificou-se que tanto escolares de ambos os sexos encontram-se em sua maioria no 2º terço, sendo 41% dos meninos e 38,4% das meninas, 61,6% de mães com obesidade são insuficientemente ativas. No estrato etário, 24,29% dos escolares entre 10 e 14 anos encontram-se no segundo terço e 39,2% das mães mais novas se enquadraram como insuficientemente ativas. CONCLUSÃO: Escolares de ambos os sexos são considerados ativos, as mães obesas são consideradas insuficientemente ativas e os escolares com obesidade são mais ativos que escolares com excesso de peso

OBJECTIVE: to verify the physical activity level of mothers and children having overweight or obesity at the greatest Latin American public school located in Florianópolis - SC. METHODS: This was a cross-sectional study enrolling 214 participants (107 students and their respective mothers). The variables used were: Body Mass Index (BMI) of both mothers and children for assessing obesity and overweight, in addition to using instruments which recorded the physical activity level of mothers and children (IPAC-short and DAFA). Data analysis employed descriptive and inferential statistics. RESULTS: It was identified that students from both sexes were mostly represented in the 2nd tertile - 41% boys and 38.4% girls. 61.6% of mothers having obesity were insufficiently active. Concerning to age range, 24.29% of schoolchildren aged between 10 and 14 years were represented in the second third, and 39.2% of younger mothers were classified as insufficiently active. CONCLUSION: Schoolchildren from both sexes were considered active, the obese mothers were considered insufficiently active, and the obese students were more active than children having overweight