Asymmetric Opening of Mitochondrial Permeability Transition Pore in Mouse Brain Hemispheres: A Link to the Mitochondrial Calcium Uniporter Complex

Abstract The prolonged entry of large amounts of calcium into the mitochondria through the mitochondrial calcium uniporter complex (MCUC) may cause the permeability transition pore (mPTP) to open, which contributes to the pathogenesis of several diseases. Tissue-specific differences in mPTP opening due to variable expression of MCUC components may contribute to disease outcomes. We designed this study to determine differential mPTP opening in mitochondria isolated from different regions of mouse brain and kidney and to compare it with the expression of MCUC components. mPTP opening was measured using mitochondria isolated from the left/right brain hemispheres (LH/RH, respectively) and from kidney cortex/medulla, while the expression level of MCUC components was assessed from total cellular RNA. Interestingly, LH mitochondria showed less calcium-induced mPTP opening as compared to RH mitochondria at two different calcium concentrations. Conversely, mPTP opening was similar in the renal cortex and renal medulla mitochondria. However, the kidney mitochondria demonstrated bigger and faster mPTP opening as compared to the brain mitochondria. Furthermore, asymmetric mPTP opening in the LH and RH mitochondria was not associated with the expression of MCUC components. In brief, this study demonstrates thus far unreported asymmetric mPTP opening in mouse brain hemispheres that is not associated with the mRNA levels of MCUC components.

Piracetam-induced neuroprotection in lipopolysaccharides-challenged EOC-20 cells and mouse brain via attenuating oxidative stress

Abstract Therapeutically, piracetam has been used for decades as a cognitive enhancer for memory- related neuronal disorders. The present study aimed to investigate the neuroprotective potential of piracetam on lipopolysaccharides (LPS)-induced neuronal deficit using both in-vitro and in-vivo experimental models. For the in-vitro analysis, EOC-20 murine microglial cells were induced with a neuronal toxicity of 100 µg/ml of LPS, and the formation of intracellular reactive oxygen species (ROS) and nitric oxide (NO) productions were determined. For in-vivo neuroprotective analysis, groups of mice were treated orally with two doses of piracetam (200 and 400 mg/kg) for 30 days. Neuronal toxicity was induced by four intraperitoneal injections of LPS (250 µg/kg/day). The malondialdehyde (MDA) level was measured for oxidative stress, and catalase reduced glutathione (GSH), glutathione reductase (GRD), and superoxide dismutase (SOD) levels were determined as the antioxidant parameters. The result of the cell viability study was that pre-treatment with piracetam significantly protected the LPS-induced cell loss, and attenuated the ROS generation and NO production in LPS-induced EOC-20 cells. Moreover, the treatment of piracetam significantly reduced the MDA levels and improved catalase, GSH, GRD, and SOD activities in LPS-induced mice brains. The overall results from this study supported the neuroprotective effects of piracetam against LPS-induced neuronal toxicity.

Caracterização inovadora da morfologia da cabeça de bebês nascidos com o vírus zika: uma inovação metodológica para amplas aplicações clínicas / Novel characterization of head morphology of infants born with Zika Virus: a methodological innovation for broad clinical applications

Introdução: A epidemia do vírus Zika em 2016 constituiu uma emergência de saúde pública, com o chamando da OMS para vigilância reforçada na detecção precoce de microcefalia relacionada às condições neurológicas. Métodos: Quarenta e quatro crianças infectadas pelo vírus Zika foram avaliadas e comparadas com crianças saudáveis com o objetivo de identificar as medidas mais confiáveis do formato e tamanho da cabeça, explorando o relacionamento entre fenótipo craniofacial e anormalidades cerebrais. A análise de componentes principais (ACP) foi utilizada para identificar padrões de variação na morfologia craniofacial. As seguintes medições adicionais da abóboda craniana foram realizadas; altura cefálica (AC), comprimento cefálico (ComC), circunferência cefálica (CC) e ângulo naso-frontal (ANF). O nível de anormalidade cerebral presente nas tomografias, a gravidade da perda de volume do parênquima cerebral e ventriculomegalia foram classificadas como leve, moderada ou grave. Resultados: Os 12 primeiros componentes principais das abóbodas analisadas explicaram 91% da variação da abóboda craniana. Correlações significativas foram detectadas entre a pontuação do segundo CP da abóbada craniana e CC (+0,66), AC (+0,87), ComC (+0,80) e ANF (-0,48). Conclusão: Este estudo recomenda mensurar a AC em pacientes com infecção pelo vírus Zika, em vez de CC como recomendado pela OMS, para melhorar a sensibilidade e especificidade da detecção precoce(AU)

Background: The 2016 Zika virus epidemic constituted a public health emergency, with the WHO calling for strengthened surveillance for the early detection of related microcephaly and associated neurological conditions. Methods: We analysed 44 Zika infected infants and matched controls to identify the most reliable measurements of head shape and size and explore the relationship between craniofacial phenotype and brain abnormalities. Principal component analysis (PCA) was applied to identify patterns of variation in the craniofacial morphology of Zika cases relative to controls. We carried out the following additional measurements of the cranial vault, the head circumference (HC), head height (HH), head length (HL) and naso-frontal-angle (NFA). The level of brain abnormality present in the CT scans, mainly the severity of parenchymal volume loss and ventriculomegaly, was classified as being mild, moderate or severe. Results: The first 12 PCs of the vaults we analysed explained 91% of the variation of the cranial vault between Zika cases and controls. Significant correlations were detected between the score of the 2nd PC of the cranial vault and HC (+0.66); HH (+0.87); HL (+0.80) and NFA (-0.48). Conclusion: We recommend measuring HH in Zika patients, rather than HC as recommended by WHO, to improve the sensitivity and specificity of early detection(AU)

Central diabetes insipidus: clinical profile that suggests organicity in Peruvian children: Lima - Peru 2001-2013.

BACKGROUND: Central diabetes insipidus (CDI) is a heterogeneous disease caused by arginine vasopressin deficiency; its management implies a profound understanding of the pathophysiology and the clinical spectrum. The aim of the study was to describe the clinical characteristics that indicate organicity in children and adolescents with central diabetes insipidus treated at the Department of Endocrinology from The Child Health's Institute during 2001 to 2013. METHODS: Cross-sectional, retrospective study. 79 cases of patients diagnosed with CDI (51 males and 28 females) from 1 month to 16 years of age were reviewed. For the descriptive analysis, measures of central tendency and dispersion were used; groups of organic and idiopathic CDI were compared using χ2-test and t-test. A p-value<0.05 was considered significant. RESULTS: The average age of patients was 8.1±4.2 years. Organic causes were intracranial tumors, 44 (55.7%), Langerhans cell histiocytosis (LCH), 11 (13.9%) and cerebral malformations in 7 (8.9%) patients, while the idiopathic group was 14 (17.7%) patients. Regarding clinical characteristics suggestive of organicity, headache (p=0.02) and visual disturbances (p=0.01) were found statistically significant. The anterior pituitary hormonal abnormalities were documented in 34 (52.3%) organic CDI patients. Furthermore, we did not find a significant difference in the average daily dose of desmopressin between patients with permanent vs. transitory CDI (0.81±0.65 vs. 0.59±0.62; p=0.363). CONCLUSIONS: The main clinical features suggestive of organicity in pediatric patients with central diabetes insipidus were headache and visual disturbances; furthermore, anterior pituitary hormonal abnormalities suggest an underlying organic etiology.

Diprosopus: Systematic review and report of two cases.

BACKGROUND: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. METHODS: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). RESULTS: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. CONCLUSION: The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc.

Variations in the brain circulation: the circle of Willis

Introduction: Despite being quite common, there is little information concerning the Brazilian population on anatomic variations and anomalies in the brain circulation. This study intends to describe the most common variations found during the autopsies for the AMA Study. Material and methods: Fifty cadavers had their circle of Willis dissected and analyzed. Results: 54% presented at least one variation, and they were more common in the posterior circulation (88.5%) and on the right side of the brain (59.7%); non-classical morphology was more common bilaterally and in the posterior circulation of the circle of Willis (37.1%). The most common finding was the absence of the posterior communicating artery (32%), followed by posterior cerebral arteries originated from the internal carotid artery (18%). There were no variations in the middle cerebral arteries. Accessory anterior cerebral arteries were present in 6%, and A1 segment hypoplasia was present in only 2% of the cases. Conclusion: Brazilian population variations are in accordance with the literature and there seems to be no difference between races in the variation of brain circulation.

Lactante menor con malformación dela vena de galeno y malformaciones cardiacas asociadas / Newborn with vein of galen malformation and concurrent cardiac malformation

La malformación aneurismática de la vena de Galeno (MAVG) es poco frecuente, pues tiene una prevalencia calculada en menos de uno en 25 000 nacidos vivos. Puede causar una alta morbilidad y mortalidad en neonatos y, con menor frecuencia, en niños mayores. Está ubicada en el plexo coroideo, en el techo del tercer ventrículo, en la región del velum interpositum. Se presenta como una fístula arteriovenosa, usualmente entre las arterias coroidales y el saco aneurismático, lo que lleva a una dilatación de la vena de Galeno. Cuando los neonatos son sintomáticos, la presentación clínica usual de la MAVG es una falla cardiaca de alto gasto, que se ha reportado hasta en el 94 % de los neonatos a quienes se les diagnostica una MAVG. En el pasado, dicha falla progresaba rápidamente a falla multiorgánica y muerte; sin embargo, actualmente las técnicas endovasculares y las unidades de cuidado intensivo han mejorado el mal pronóstico de la MAVG. Se presenta el caso de un recién nacido con diagnóstico antenatal de MAVG con malformaciones cardiacas, que en el momento vive, a pesar del pronóstico reportado en la literatura...

Vein of Galen Aneurysmal Malformations(VGAM) is a rare malformation with a prevalenceestimated at less than one in 25,000 live births.This malformation can cause high morbidity andmortality in neonates and less frequently in olderchildren. Is a complex vascular malformation ofthe choroid, in the roof of the third ventricle, inthe region of the velum interpositum. It is presentedas an arteriovenous fistula, usually betweenthe choroidal arteries and the aneurysm sac, leadingto a dilated vein of Galen. When infants aresymptomatic, the usual clinical presentation ofheart failure VGAM is high output, which hasbeen reported in up to 94 % of infants who arediagnosed with a VGAM. In the past, such failurerapidly progressed to multiorgan failure anddeath, with mortality reported up to 100 %, butnow advances in endovascular techniques andintensive care units have improved the poor prognosisof VGAM...

Cambios cerebrales en la morfometría en pacientes con VIH / Cerebral changes in them morphometrics of hiv patients

La atrofia cerebral es un hallazgo común en pacientes con infección por el virus de la inmunodeficiencia humana, especialmente en pacientes con demencia; lo que demuestra compromiso neocortical en estadios tardíos de la enfermedad y compromiso de los ganglios basales en las fases tempranas o asintomáticas. Objetivo: Evaluar los cambios en el volumen cerebral total, el volumen del núcleo caudado, el volumen del núcleo accumbens y la anisotropía fraccional de los tractos de sustancia blanca en pacientes con VIH sin síntomas neurodegenerativos, en relación con sujetos sanos. Métodos: Para la segmentación y cuantificación del tejido cerebral se extrajo el cerebro y el cráneo; se normalizó de acuerdo con el volumen cerebral total, y a partir de este se segmentaron los volúmenes del núcleo caudado y del núcleo accumbens. Se utilizó el método de tractografía espacial estadística para la cuantificación y búsqueda de diferencias en el coeficiente de anisotropía fraccional. Resultados: El porcentaje de volumen de sustancia blanca respecto al volumen cerebral fue menor en los pacientes con VIH (42,83 ± 2,65%), comparado con los sujetos sanos (43,56 ± 1,60%). El porcentaje de volumen del núcleo de accumbens izquierdo en los pacientes con VIH fue del 0,0254 ± 0,0073 % del cerebro, y en los individuos sanos, del 0,0351 ± 0,0067% del cerebro; (p < 0,05). Conclusión: No fue evidente ni significativa la disminución del volumen del parénquima cerebral de la sustancia gris, a excepción del núcleo accumbens izquierdo. En relación con el volumen de la sustancia blanca, se hallaron cambios globales y no regionales en dichos tractos…

Cerebral atrophy is a common finding in patients infected with the Human Immuno-deficiency Virus (HIV), particularly in patients with dementia. This disease shows neocortical compromise in late stages as well as compromise in the basal ganglia in early or asyntomatic phases. Objective: Evaluate changes in total brain volume, caudate nucleus volume, nucleus accumbens volume, and fractional anisotropy of white matter tracts in HIV pa tients without neurodegenerative symptoms, in comparison with healthy subjects. Methods: For segmentation and quantification purposes of the brain tissue, the brain and skull were extracted and the tissue was normalized according to total brain volume. From the tissue thus obtained, the caudate nucleus and nucleus accumbens volumes were segmented. The method of statistic spatial tractography was used for quantification and search of differences in the fractional anisotropy coefficient. Results: The percentage of white mat ter volume with respect to brain volume was smaller in HIV patients (42.83±2.65 %) when compared with healthy subjects (43.56±1.60 %). The percentage of left nucleus accumbensvolume in HIV patients was 0.0254±0.0073 % of the brain and 0.0351±0.0067 % in healthy subjects; (p<0.05). Conclusions: It was not evident A decrease in the volume of the gray matter parenchyma was not evident or significant, except in the left nucleus accumbens. Global but not regional changes were found in white matter tracts…

The AMA study (Multi-Arterial Atherosclerosis): correlation ofmalformation of cardiac and cerebral arteries

We are performing a study on the distribution of atherosclerosis in the arteries and during our dissectionswe have found arterial malformations in the brain and heart. Of these, 6 are related to the posterior cerebralarteries and 3 are related to the posterior Interventricular artery of the heart. In all these three cases, suchaforementioned abnormality in the circle of Willis also occurred. It is an interesting and unexpected findingand we are still waiting for further development in our work in order to clarify these “related” malformations.

Confiabilidade da análise qualitativa da ressonância magnética do encéfalo em prematuros extremos / Reliability of qualitative assessment of brain magnetic resonance imaging in extremely premature infants

OBJETIVO: O objetivo deste estudo foi avaliar a confiabilidade da análise visual qualitativa dos achados de imagem de ressonância magnética (RM) em recém-nascidos prematuros extremos. MATERIAIS E MÉTODOS: Uma coorte de 45 recém-nascidos de idade gestacional de 30 semanas ou menos foram inseridos neste estudo. Dois neurorradiologistas, cegos quanto aos dados clínicos, avaliaram de forma independente as RMs de crânio em relação aos seguintes achados: presença de hipersinal difuso e excessivo (DEHSI), dilatação dos ventrículos laterais, hemorragia intracraniana, áreas de sinal anormal em núcleos da base e córtex, áreas de aspecto cístico, deformidades ventriculares, dilatação do espaço subaracnóideo, leucoencefalomalácia precoce e anormalidades corticais. RESULTADOS: Quarenta e um pacientes (91,1 por cento) apresentaram exame de RM anormal. Os achados mais comuns foram DEHSI (75,6 por cento) e dilatação dos ventrículos (42,2 por cento). A concordância interobservadores entre os dois experientes neurorradiologistas foi alta (κ > 0,60) para a maioria das alterações detectadas pela RM. O valor de kappa foi moderado (κ = 0,52) para alargamento do espaço subaracnoide e fraco (κ = 0,39) para DEHSI na substância branca. CONCLUSÃO: A avaliação qualitativa da maioria dos achados de imagem por RM de neonatos prematuros extremos foi considerada confiável, entretanto, a presença de DEHSI na substância branca demonstrou um grau de confiabilidade menor.

OBJECTIVE: The present study was aimed at evaluating the reliability of the qualitative visual assessment of brain abnormalities using conventional brain MRI in extremely preterm infants. MATERIALS AND METHODS: A cohort of 45 consecutive infants with gestational age of 30 weeks or less (median of 27 weeks, ranging from 25 to 30 weeks) was enrolled in this study. Two independent, experienced neuroradiologists blindly reviewed MRI studies of the infants' brain for diffuse and excessive high-signal intensity (DEHSI), dilated lateral ventricles, intracranial hemorrhage, areas of abnormal signal in the basal ganglia and cortex, cyst-like areas, ventricular deformities, enlargement of subarachnoid spaces, early leukoencephalomalacia, and cortical abnormalities. RESULTS: Forty-one patients (91.1 percent) presented abnormalities at MRI. The most common findings were DEHSI in the white matter (75.6 percent) and ventricular dilatation (42.2 percent). The interobserver agreement was high (κ > 0.60) for most of the abnormal MRI findings. The kappa statistic values were moderate for enlargement of the subarachnoid space (κ = 0.52) and was only low for DEHSI in the white matter (κ = 0.39). CONCLUSION: Conventional MRI seems to be a reliable method for evaluating the most common brain abnormalities in extremely premature infants; however, the presence of DEHSI in the white matter demonstrated to be is a less reliable finding.

Apresentações de localização atípica de hemorragia no cérebro de recém-nascidos: considerações acerca de dois casos / Atypical locations of cerebral hemorrhage in newborns: considerations about two cases

Estudo retrospectivo de dois casos de hemorragia craniana de localização atípica em 777 recém-natos internados na unidade de terapia intensiva neonatal da Casa de Saúde São José, Rio de Janeiro, RJ. Foram avaliados os aspectos clínicos e o diagnóstico por métodos de imagem. Verificamos que a ultrassonografia foi diagnóstica nos dois casos quando comparada com a ressonância magnética. Em relação à etiologia, esta foi multifatorial, e a manifestação clínica silenciosa independente da localização. Até o presente momento, a avaliação neurológica tem tido curso satisfatório, embora os pacientes ainda tenham baixa idade para a avaliação neurológica definitiva.

Retrospective study of two cases of atypically localized cerebral hemorrhage among 777 newborns admitted to the neonatal intensive care unit at Casa de Saúde São José, Rio de Janeiro, RJ, Brazil. Clinical findings and imaging diagnoses were evaluated. The diagnostic effectiveness of ultrasonography was established by correlation with magnetic resonance imaging findings. Multifactorial etiology was observed, besides silent clinical presentation independently from localization. So far the neurological evaluation has satisfactorily progressed although the patients are still too young to allow a definite neurological evaluation.

O cérebro criminógeno na antropologia criminal do século XIX: um estudo sobre a etiologia do crime a partir da medicalização da sociedade / The criminogenous brain in the criminal anthropology of the 19th-century: a study of the ethiology of crime from the medicalisation of society

O presente trabalho se dedica a realizar uma incursão na história do pensamento criminológico a fim de contribuir para um mapeamento das justificativas do surgimento de certas normas penais, algumas ainda em vigor, e o mapeamento das razões da edificação de muitas instituições jurídicas e administrativas, algumas ainda em funcionamento. A análise tradicional da biografia da Criminologia costuma, todavia, omitir certas ideias que deveriam ser integradas ao percurso da sua vertente científica. Vários são os autores que apontam para a origem da trajetória cientificista criminológica na Europa do fim do século XIX. No entanto, quando se aprofunda na identificação das raízes das referências positivistas na implicação Medicina-Pessoa-Sociedade da era moderna e sua influência na seara criminológica, percebe-se que uma tímida Criminologia já estava nascendo no início do século XIX com os estudos sobre a fisiologia cerebral. Em meio a um processo político amplo de fortalecimento do Estado e da burguesia, dá-se a formação de um aparato médico-jurídico, pelo qual se demonstra a tentativa de reconhecimento da autoridade médica para além dos limites legítimos da atividade. Preocupa-se, portanto, em chamar a atenção para o movimento de“medicalização” do criminoso por uma leitura histórica do impacto do “cientificismocerebral” na esfera criminal. O material desenvolvido pela Frenologia e, depois, pela Antropologia Criminal, é emblemático dessa onda cientificista do século XIX, na qual as pesquisas cerebrais imprimem a visão sobre a etiologia do crime a partir de seus marcadores biológicos.

An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation.

A 5-year-old Mexican girl had a bilateral, systematized epidermal nevus of a non-epidermolytic, non-organoid type covering large parts of her body with the exception of the scalp. Clinically, this nevus was of a soft, velvety type showing affinity to the large body folds. Histopathological examination revealed orthohyperkeratosis and papillomatosis without granular degeneration and without any abnormality of adnexal structures. During infancy she developed seizures, and subsequently a delayed mental development was noted. Computer tomography of the brain revealed cortical and subcortical atrophy, a subdural hygroma in the left frontoparietotemporal region, and hypoplasia of corpus callosum. Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found. The R248C mutation was also present in DNA extracted from blood leukocytes. Because FGFR3 is involved in the development of the central nervous system, the clinical and genetic findings of this case indicate a widespread mosaicism of the FGFR3 mutation. This unusual mosaic phenotype may represent a distinct entity within the group of epidermal nevus syndromes.

Malformación congénita: anencefalia a propósito de un caso / Congenital malformation: anencefalia a purpose of a case

La Anencefalia es uno de los defectos congénitos del sistema nervioso central, dado por la ausencia de huesos craneales y tejido encefálico. Este tubo neutral suele cerrarse alrededor de 28 días después de iniciarse el período de crecimiento. El origen de este tipo de malformación es multifactorial asociado principalmente a las deficiencias de folatos por parte de la gestante, igualmente se presume que la exposición a sustancias tóxicas y el consumo de drogas de abuso también se asocian a este tipo de alteración teratogénica. Se presentan en 1-2 de cada 1000 nacidos vivos. El diagnóstico es principalmente dado por estudio ecográfico a partir de la semana 14 de gestación, también se emplea la titulación de alfafetoproteínas y el estudio de líquido anmiótico. Lamentablemente la Anencefalia no tiene tratamiento ya que de sobrevivir al parto el producto vivirá menos de 12 horas. Es preciso que durante el control de la gestación el médico indique la ingesta de ácido fólico y multivitaminicos principalmente B12. Se presenta el caso de una paciente femenina de 27 años de edad, II gestas I para 0 abortos, quien consulta por presentar hallazgo ecográfico que evidencia alteración del cráneo, con una edad gestacional de 24 semanas, por eco, con un embarazo no controlado, refiere antecedente de consumo de drogas por parte de la pareja; igualmente niega ingesta de folatos, hierro o complejo B durante la gestación, refiere trabajar en una empresa productora de alimentos derivados de la papa. Razón por la cual acude a este centro donde se valora y se ingresa para discutir caso; se ingresa con el diagnóstico de embarazo de 25 semanas + 1 día por eco traspolado y ARO por malformación fetal: Anencefalia, no evidenciando alteración al examen físico obstétrico. En sala de hospitalización se realiza eco obstétrico que evidencia malformación fetal anencefalia y se decide trasladar a sala de parto para interrupción del embarazo, se induce trabajo de parto.

Aspectos clínicos em 16 pacientes com diagnóstico tomográfico de esquizencefalia / Clinical findings in 16 patients with tomographic diagnosis of schizencephaly

OBJETIVO: Correlacionar o quadro clínico de um grupo de crianças com diagnóstico tomográfico de esquizencefalia com a extensão e localização das fendas. MATERIAIS E MÉTODOS: Estudo retrospectivo de prontuários do arquivo dos serviços de Neurologia e Genética Médica do Instituto Fernandes Figueira e Hospital Municipal Jesus, Rio de Janeiro, RJ, Brasil, no período de 2000 a 2003. Foram incluídos 16 pacientes, nove do sexo feminino e sete do sexo masculino, com diagnóstico tomográfico de esquizencefalia e analisados quanto a aspectos da tomografia computadorizada, desenvolvimento neuropsicomotor, déficit motor e cognitivo e epilepsia. RESULTADOS: Predominaram as fendas bilaterais em 10:16 pacientes, lábios abertos em 23:27 fendas e pequenas em 11:27 fendas. Das anomalias associadas à esquizencefalia, a ausência de septo pelúcido foi a mais freqüente (10:16 pacientes). Dos aspectos clínicos, 15 pacientes apresentaram atraso do desenvolvimento e déficit motor; seis apresentaram déficit cognitivo e dez apresentaram epilepsia. Em três pacientes observamos discordância entre o quadro clínico e o tamanho das fendas: embora as fendas fossem pequenas, o quadro clínico foi intenso, em virtude de presença de outras anomalias cerebrais. CONCLUSÃO: O quadro clínico guarda relação com o tamanho das fendas, independentemente da lateralidade, sendo mais intenso quando há associação com outras anomalias cerebrais.

OBJECTIVE: To establish a correlation between clinical features in a group of children with tomographic diagnosis of schizencephaly and clefts extent and localization. MATERIALS AND METHODS: Retrospective study of dossiers from the archives of Neurology and Medical Genetics Services at Instituto Fernandes Figueira/Fiocruz and Hospital Municipal Jesus, Rio de Janeiro, RJ, Brazil, in the period between 2000 and 2003. The study included 16 patients, nine female and seven male, with tomographic diagnosis of schizencephaly investigated for clinical findings, psychomotor development, motor/cognitive deficits and epilepsy. RESULTS: Predominance of bilateral clefts in 10:16 patients, open-lip schizencephaly type in 23:27 patients, and small lips in 11:27 patients. As regards anomalies associated with schizencephaly, pellucid septum absence was the most frequent one (10:16 patients). As regards clinical findings, 15 patients presented with developmental delay and motor deficit, six patients with cognitive deficit and ten with epilepsy. In three patients, we observed discordant clinical findings and cleft sizes, although the clefts were small, the clinical features severity was high because of other cerebral anomalies. CONCLUSION: The clinical features of schizencephaly are related to the size of the clefts, regardless laterality, presenting higher severity when associated with other cerebral anomalies.

Fungal pyogranulomatous encephalitis in a dog with leishmaniosis

É relatado um caso de encefalite piogranulomatosa em um cão fêmea de um ano de idade, da raça Fila Brasileiro. Ao exame macroscópico do cérebro, evidenciou-se área amolecida e hemorrágica no córtex frontal direito e na superfície de corte do hemisfério esquerdo, afetando a substância branca e áreas corticais profundas. O diagnóstico de encefalite piogranulomatosa micótica multifocal foi realizado através de exame histopatológico, que mostrou a presença de macrófagos, células gigantes, focos de hemorragia e hifas septadas de coloração marrom, com distribuição difusa e invadindo a luz de vasos. A identificação de formas amastigotas ôno imprintõ de linfonodo poplíteo confirmou o diagnóstico de leishmaniose. A infecção micótica no cérebro deste cão foi relacionada com a ocorrência concomitante de leishmaniose, uma doença imunossupressora.