Leigh Syndrome with Atypical Cerebellum Imaging Features

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Leigh syndrome with atypical cerebellar lesions

Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis. It can be caused by more than 75 different gene mutations, of nuclear and mitochondrial origin, involving all respiratory chain complexes, with less than 25% of Leigh syndrome having mitochondrial DNA mutations. The typical pathologic hallmarks are focal, bilateral, and symmetric lesions in the basal ganglia, thalamus, cerebellum, cerebral white matter and spinal cord gray matter, usually with T2WI and FLAIR hyperintensity. The basal ganglia and thalami frequently present with a pattern of cytotoxic edema. We present one case with clinical and analytical features consistent with Leigh Syndrome, with peculiar imaging features, showing dominant cerebellar edematous changes with unexpected petechial component suggestive of microangiopathy. To our knowledge, these features are unreported and suggest the existence of microvascular lesions. Based on the reported imaging findings, we propose that Leigh Syndrome should be added to the differential diagnosis of acute cerebellitis.info:eu-repo/semantics/publishedVersio

New mutation of Rubinstein-Taybi Syndrome

Introdução: O Síndrome de Rubinstein-Taybi (SRT) tem uma prevalência de 1:100000 – 125000 e deve-se a microdelec- ção do cr16p13.3, mutação do gene CREBBP ou do gene EP300. Caso clínico: ♀, 8 anos. Gestação normal, ao nascer apresentava polegares grandes, luxação e fusão da primeira falange bilateralmente. Avaliada aos 3 anos por atraso global do desenvolvimento, perturbação da linguagem e comportamento hipercinético. Apresentava microcefalia, estrabismo divergente, respiração oral, clinodactilia, escoliose e hipertricose. Da investigação realizada destaca-se RMN CE com lesões encefaloclásticas no córtex temporal e insular bilateralmente e hi- poacúsica esquerda minor. Mutação heterozigótica c2803c>T (p.Gln935X) no exão 15 do gene CREBBP, ausente nos pais. Actualmente cumpre currículo individual, recebe terapia da fala e está medicada com metilfenidato e risperidona. Comentários: O défice cognitivo e as alterações do exame objectivo sugeriram SRT. A mutação c2803c>T (p.Gln935X) no gene CREBBP foi associada pela primeira vez a este síndrome

Sepsis, meningitis and cerebral abscesses caused by Citrobacter koseri

After a 36-week diamniotic dichorionic gestation, an infant was delivered by elective caesarean section due to growth restriction and altered diastolic flow in the umbilical artery. Birth weight was 2140 g. The patient was admitted for exclusive parenteral nutrition, with umbilical venous catheter placement. Sinus tachycardia and temperature instability with positive inflammatory markers occurred at 51 h. Penicillin and gentamicin were started, but 6 h later septic shock with disseminated intravascular coagulation was noted. Vancomycin and meropenem were started and penicillin suspended. Citrobacter koseri was isolated from blood culture. Generalised clonic convulsions occurred on day 4, and an electroencephalogram revealed severe encephalic dysfunction. Cerebrospinal fluid cytochemical analysis was suggestive of meningitis, although culture was negative. Cefotaxime was added to the drug regimen. Cranioencephalic MR showed a temporal abscess and diffuse hemispheric destruction, with no indications for neurosurgery. After 6 weeks of therapy, neuroimaging follow-up showed multiloculated cystic encephalomalacia. Currently, the patient is 14 months old with axial hypotonia and decreased movements. The source of infection has not been determined. Nosocomial infection cannot be excluded and vertical transmission is unlikely

Factores preditivos da aderência dos pais a um programa de seguimento de crianças nascidas de muito baixo peso

Introduction: Newborn infants of very low birth weight (VLBW) are at high risk of neurodevelopment disorder, justifying the implementation of early intervention programs for these children. Objectives: Evaluate the effects of long-term "Care Programme for Development” (CPD) applied to VLBW infants, analyze parents' compliance to follow-up and identify perinatal variables with influence on neurodevelopment. Methods: Cross sectional and retrospective study on the implementation and adherence to CPD in a level III hospital between 2001 and 2005. Morbidity defined as neurological or sensorial sequels. Out of 323 VLBW newborns, 265 were enrolled for the study (49 died; 9 transferred). Results: CPD was made on 89%. Comparing groups with follow-up (156/59%) and without follow-up (109/41%), there were significant differences in maternal age (28.7 / 26.1, p=0.001) and pregnancy surveillance (89% / 78%, p=0.008). There was significant association of adherence with maternal age (odds ratio 1.059, 95% CI 1.009-1.112, p=0.019); pregnancy surveillance (odds ratio 0.336, 95% CI 0.141-0.802, p=0.014) and early consultation (Odds ratio 6.390, 95% CI 2.685 -15.208, p<0.001). Group with follow-up evaluated at an average age of 3.6 years. Seventy-nine per cent had normal neurodevelopment, 10% development delay or cognitive impairment, 6.4% cerebral palsy and 4% had attention deficit hyperactivity. Visual deficit in 7.8% and hearing impairment in 10% of 156 evaluated children. Regression analysis showed a positive association between the existence of sequels and male gender (odds ratio 0.384, 95% CI 0.169 to 0.869, p=0.022) and peri-intraventricular hemorrhage (odds ratio 2.965, 95% CI 1.104 to 7.963, p=0.031). After discharge, 31% required specific intervention. Discussion and conclusion: Adherence to CPD was higher in older mothers, surveillance of pregnancy, intervention started in NICU and early consultation after discharge. Low birth weight, male gender, IPVH, ventilation time and BPD seem to be variables associated with poor prognosis of neurodevelopment

Wetlands for wastewater treatment and subsequent recycling of treated effluent : a review

Due to water scarcity challenges around the world, it is essential to think about non-conventional water resources to address the increased demand in clean freshwater. Environmental and public health problems may result from insufficient provision of sanitation and wastewater disposal facilities. Because of this, wastewater treatment and recycling methods will be vital to provide sufficient freshwater in the coming decades, since water resources are limited and more than 70% of water are consumed for irrigation purposes. Therefore, the application of treated wastewater for agricultural irrigation has much potential, especially when incorporating the reuse of nutrients like nitrogen and phosphorous, which are essential for plant production. Among the current treatment technologies applied in urban wastewater reuse for irrigation, wetlands were concluded to be the one of the most suitable ones in terms of pollutant removal and have advantages due to both low maintenance costs and required energy. Wetland behavior and efficiency concerning wastewater treatment is mainly linked to macrophyte composition, substrate, hydrology, surface loading rate, influent feeding mode, microorganism availability, and temperature. Constructed wetlands are very effective in removing organics and suspended solids, whereas the removal of nitrogen is relatively low, but could be improved by using a combination of various types of constructed wetlands meeting the irrigation reuse standards. The removal of phosphorus is usually low, unless special media with high sorption capacity are used. Pathogen removal from wetland effluent to meet irrigation reuse standards is a challenge unless supplementary lagoons or hybrid wetland systems are used

Valproate and pregnancy: three case reports on risks and adverse outcomes

Introdução: A exposição fetal a antiepilépticos atinge 1 em 250 gestações e associa-se a alterações neurocomportamentais, malformações e dismorfia. Alterações relacionadas com a proliferação celular, neurogénese, migração neuronal, morte celular programada e sinaptogénese são alguns dos mecanismos propostos para o efeito deletério do SNC felat. Casos clínicos: apresentamos três crianças com fetopatia a valproato, todas com dismorfia sugestiva. A primeira criança, de 5 anos, apresenta também perturbação do espectro do autismo, sem malformações identificadas. A segunda criança, de 9 anos, evidencia funcionamento cognitivo no estado-limite, desatenção e dificuldades globais de aprendizagem significativas, criptorquidia e dilatação pielocalicial bilateral. A terceira criança, de 6 anos, tem um atraso global do desenvolvimento. Conclusões: O uso de valproato deve ser evitado em mulheres em idade fértil e, quando é a melhor opção, o seu uso durante a gravidez deve ser uma decisão conjunta do clinico e da mulher grávida. Os autores recomendam o seguimento neurocomportamental das crianças expostas ao valproato durante a gravidez.info:eu-repo/semantics/publishedVersio

Polysomnography in children with trisomy 21 and obstructive sleep apnea syndrome

Introdução e objectivos: As crianças com trissomia 21 (T21) têm uma prevalência de 50% de síndrome de apneia obstru- tiva do sono (SAOS). Os sinais nem sempre são percepcio- nados pelos pais e o estudo polissonográfico do sono (PSG) não está generalizado. O objectivo foi avaliar a existência de SAOS em crianças com T21. Métodos: Amostra de conveniência de 12 crianças com T21 estudadas através da realização de PSG. Resultados: A idade mediana das crianças estudadas foi de 4,5 anos (1,6-13), com índice de massa corporal (IMC) ≥25 em 25% (n=3). Apresentavam défice cognitivo grave 25% (n=3), moderado 33% (n=4) e ligeiro 33% (n=4). Tiveram infecções respiratórias de repetição 42% (n=5) e efectuaram adenoamigdalectomia prévia à PSG 58% (n=7). Referido em consulta, sono agitado 83% (n=10), roncopatia nocturna 92% (n=11) e pausas na respiração 42% (n=5). Na PSG verificou - -se sono lento superficial aumentado em 83% (n=10), sono lento profundo diminuído em 33% (n=4) e em 92% (n=11) diminuição do sono REM. A média da eficiência do sono foi de 84% e em 42% (n=5) estava diminuída. Todos apresen- taram aumento do índice de apneia/hipopneia (IAH) sendo a média de 7,0 (2,5-18,7). As crianças com défice cognitivo grave apresentaram maior número de despertares por hora (DPH) em relação às crianças com défice cognitivo ligeiro (p=0,05), não havendo diferença significativa na eficiência do sono, IAH, movimentos periódicos do sono (MPS) e satura- ção média de oxigénio. Não se verificou associação entre IMC e IAH. A existência prévia de adenoidoamigdalectomia não influenciou significativamente o resultado da PSG. Conclusão: Conclui-se que nas crianças com T21 a PSG permite o diagnóstico atempado da SAOS. A adenoamig- dalectomia não resolve eficazmente a SAOS, devendo ser introduzidas precocemente outras medidas