Leigh syndrome in an infant: autopsy and histopathology findings

Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia, brainstem dysfunction, epileptic seizures, and respiratory dysfunction. Although the disorder is clinically and genetically heterogeneous, the histopathological and radiological features characteristically show focal and bilaterally symmetrical, necrotic lesions in the basal ganglia and brainstem. The syndrome has a characteristic histopathological signature that helps in clinching the diagnosis. We discuss these unique findings on autopsy and radiology in a young infant who succumbed to a subacute, progressive neurological illness suggestive of Leigh syndrome. Our case highlights that Leigh syndrome should be considered in the differential diagnosis of infantile-onset, subacute neuroregression with dystonia and seizures, a high anion gap metabolic acidosis, normal ketones, elevated lactates in blood, brain, and urine, and bilateral basal ganglia involvement.

A voxel-based diffusion kurtosis imaging study of whole-brain in alcohol dependent patients / 中华放射学杂志

Objective To study the changes of micro structure of white matter and gray matter in alcohol dependent patients by using diffusion kurtosis imaging(DKI) based on the method of voxel-based analysis.Methods Thirty alcohol dependent individuals and twenty healthy control volunteers,matched in gender, age, handedness and education, were enrolled as the alcohol dependent group and control group from September 2016 to June 2017.Michigan alcoholism screening test(MAST)was done for all subjects.All the subjects underwent DKI data acquisition by MR scanning. The relevant parameters were obtained by DKE software, including fractional anisotropy(FA), mean diffusivity(MD), axial diffusivity(AD), radial diffusivity(RD), mean kurtosis(MK), axial kurtosis(AK), radial kurtosis(RK), FA of kurtosis(FAK). Independent sample t test was performed to evaluate the significant difference of DKI parameters of two groups,meanwhile,the correlation analysis was conducted in DKI parameter values of different brain regions and MAST scores. Results Compared with the healthy control group, the FA value, MK value and RK value were decreased while the RD value was increased in alcohol dependence group, and there was significant difference between the two groups respectively(P<0.001). There was no significant difference between the two groups in the other parameters (AD, MD, AK, FAK). Compared with the healthy control group,the FA values of left lingual gyrus(164 voxels,t=-5.582)and left hippocampus(38 voxels,t=-3.664) increased;the MK value of left cerebellum posterior lobe(71 voxels,t=-4.004)reduced;the RK value of left cerebellum posterior lobe(67 voxels, t=-4.174), left middle cingulum(32 voxels, t=-3.925), left superior parietal gyrus(36 voxels,t=-3.812)reduced;and the RD value of the left inferior parietal gyrus(31 voxels,t=3.731)increased in alcohol dependence group.There was no correlation between MAST score and the value of DKI parameters. Conclusions There are dominant areas of brain injury in patients with alcohol dependence. The DKI parameters can reflect the changes of the whole brain microstructure of alcohol dependent patients and provide imaging basis in the diagnosis of alcohol dependence.

Effects of repetitive transcranial magnetic stimulation on cognitive function in patients with lesions in prefronal cortex / 中华神经科杂志

Objective To investigate the effects of repetitive transcranial magnetic stimulation (rTMS) on cognitive function and safety in patients with lesions in prefrontal cortex (PFC).Methods Twenty-one patients with lesions in PFC hospitalized in the Department of Neurosurgery and Department of Neurology,Anqing Hospital Affiliated to Anhui Medical University between January 2012 and October 2014 were enrolled and given regular drug treatment as a background.Event-related potential (ERP) P300 latency and amplitude,Montreal Cognitive Assessment (MoCA) scores were recorded and compared before and after 4-week rTMS treatment.Results Compared with those before rTMS treatment,P300 latency ((367.38 ± 9.79) ms vs (345.43 ± 11.31) ms;t =5.33,P ＜ 0.05) was significantly shortened,while amplitude ((4.79 ± 1.02) μV vs (7.84 ± 1.40) μV;t =-8.08,P ＜ 0.05),MoCA scores (19.57 ±2.06 vs 23.91 ± 1.30;t =-8.14,P ＜ 0.05),memory test scores (2.19 ± 0.81 vs 4.10 ± 0.89;t =-7.24,P ＜ 0.05) and executive function test scores (2.52 ± 1.08 vs 3.57 ± 0.93;t =-3.38,P ＜0.05) were obviously increased.MoCA scores (18.22 ± 1.56 vs 20.58 ± 1.83;t =-3.11,P ＜ 0.05),memory test scores (1.89 ± 0.78 vs 2.42 ± 0.79;t =-2.26,P ＜ 0.05) and executive function test scores (1.56 ± 0.53 vs 3.25 ± 0.75;t =-5.76,P ＜ 0.05) showed statistically significant difference before rTMS treatment in patients with lesions in either right or left front lobe.Conclusions rTMS which is thought to be a safe procedure can improve cognitive function in patients with lesions in prefrontal cortex.

Food pattern and nutritional status of children with cerebral palsy / Estandar alimentar y estado nutricional de ninos con paralisis cerebral / Padrao alimentar e estado nutricional de criancas com paralisia cerebral

OBJECTIVES To assess the food intake pattern and the nutritional status of children with cerebral palsy. METHODS Cross-sectional study with 90 children from two to 12.8 years with cerebral palsy in the following forms: hemiplegia, diplegia, and tetraplegia. Nutritional status was assessed by weight, height, and age data. Food intake was verified by the 24-hour recall and food frequency questionnaire. The ability to chew and/or swallowing, intestinal habits, and physical activity were also evaluated. RESULTS For 2-3 year-old age group, the mean energy intake followed the recommended range; in 4-6 year-old age group with hemiplegia and tetraplegia, energy intake was below the recommended limits. All children presented low intake of carbohydrates, adequate intake of proteins and high intake of lipids. The tetraplegia group had a higher prevalence of chewing (41%) and swallowing (12.8%) difficulties compared to 14.5 and 6.6% of children with hemiplegia, respectively. Most children of all groups had a daily intestinal habit. All children presented mild physical activity, while moderate activity was not practiced by any child of the tetraplegia group, which had a significantly lower height/age Z score than those with hemiplegia (-2.14 versus -1.05; p=0.003). CONCLUSIONS The children with cerebral palsy presented inadequate dietary pattern and impaired nutritional status, with special compromise of height. Tetraplegia imposes difficulties regarding chewing/swallowing and moderate physical activity practice. .

OBJETIVO Evaluar el estándar alimentar y estado nutricional de niños con parálisis cerebral. MÉTODOS Estudio transversal con 90 niños de 2 a 12,8 años de edad, con parálisis cerebral de tipo hemiplejía, diplejía y tetraplejía. Se evaluaron el estado nutricional por medio de los datos de peso, altura y edad, el consumo alimentar por el Recordatorio de 24 horas y por el Cuestionario de Frecuencia Alimentar, la capacidad de masticar y/o deglutir, el hábito intestinal y la práctica de actividad física. RESULTADOS En el grupo de 2 a 3 años, el promedio de ingestión energética estaba conforme a la recomendación; en la franja de 4 a 6 años, los grupos con hemiplejía y con tetraplejía presentaban promedios inferiores al límite inferior de recomendación. El grupo como un todo presentó estándar dietético bajo en carbohidratos, adecuado en proteínas y alto en lípidos. El grupo con tetraplejía presentó mayor prevalencia de dificultad para masticación (41%) y deglución (12,8%), versus, respectivamente, 14,5 y 6,6% de los niños con hemiplejía. Se observó que la mayoría de los niños con cada tipo de parálisis cerebral presentaba hábito intestinal diario. Todos los niños estudiados tenían actividad física liviana, mientras que la actividad moderada no era practicada por ningún niño del grupo tetraplejía, que también presentó escore Z de -2,14 de la relación estatura/edad, significantemente menor respecto al grupo con hemiplejía (escore Z de -1,05; p=0,003). CONCLUSIONES Los niños presentaron estándar alimentar inadecuado, estado nutricional comprometido, principalmente la estatura. La tetraplejía impone dificultades de masticación/deglución y práctica de actividad física ...

OBJETIVO Avaliar o padrão alimentar e o estado nutricional de crianças com paralisia cerebral. MÉTODOS Estudo transversal com 90 crianças de dois a 12,8 anos de idade, com paralisia cerebral do tipo hemiplegia, diplegia e tetraplegia. Avaliaram-se o estado nutricional por meio dos dados de peso, altura e idade, o consumo alimentar pelo Recordatório de 24 horas e pelo Questionário de Frequência Alimentar, a capacidade de mastigar e/ou deglutir, o hábito intestinal e a prática de atividade física. RESULTADOS No grupo de dois a três anos, a média de ingestão energética estava de acordo com a recomendação; na faixa de quatro a seis anos, os grupos com hemiplegia e com tetraplegia apresentaram médias abaixo do limite inferior da recomendação. O grupo como um todo apresentou padrão dietético baixo em carboidratos, adequado em proteína e alto em lipídios. O grupo com tetraplegia apresentou maior prevalência de dificuldade para mastigação (41%) e para deglutição (12,8%) versus, respectivamente, 14,5 e 6,6% das crianças com hemiplegia. Observou-se que a maioria das crianças com cada tipo de paralisia cerebral apresentava hábito intestinal diário. Todas as crianças estudadas tinham atividade física leve, enquanto a atividade moderada não era praticada por nenhuma criança do grupo com tetraplegia, que também apresentou escore Z de -2,14 da relação estatura/idade, significantemente menor em relação ao grupo com hemiplegia (escore Z de -1,05; p=0,003). CONCLUSÕES As crianças apresentaram padrão alimentar inadequado, estado nutricional comprometido, o que afetou principalmente a estatura. A tetraplegia impõe dificuldade de mastigação/deglutição e da prática de atividade física moderada. .

Habilidades funcionais de criança com síndrome da imunodeficiência adquirida / Functional abilities of children with Acquired Immunodeficiency Syndrome

A encefalopatia associada ao vírus da imunodeficiência humana é uma conseqüência importante das infecções neurológicas que atingem crianças com a síndrome da imunodeficiência adquirida. Tal conseqüência pode gerar perdas no desenvolvimento neuropsicomotorlevando a dificuldades em atividades fundamentais para a independênciada criança. O objetivo do estudo é descrever os ganhos funcionaisnas áreas de auto-cuidado e mobilidade de uma criança com síndrome da imunodeficiência adquirida. Foi aplicado junto ao cuidador da criança o Inventário de Avaliação Pediátrica de Incapacidade(PEDI), antes e após o processo de reabilitação com intervalo de 12meses. Os resultados demonstram que houve melhora funcional nos aspectos avaliados. Na área de auto-cuidado houve alteração de escores de 53,65 na primeira avaliação para 60,06 na segunda avaliação. Na área de mobilidade a criança passou de um escore de 24,29 para 38,66. Os resultados sugerem que as estratégias utilizadas no processo de reabilitação, bem como atuação da equipe ultidisciplinar permitiram o desenvolvimento de habilidades para melhor desempenho ocupacional da criança.

Encephalopathy associated with human immunodeficiency virus is an important consequence of neurological infections that affect children with acquired immunodeficiency syndrome. Such a result can generate large losses in neuropsychomotor development leading to difficulties in activities fundamental to the independence of the child. The objective here was to describe the functional gains in the areas of self-care and mobility of a child with acquired immunodeficiency syndrome. The Pediatric Evaluation of Disability Inventory (PEDI) was made with the child’s caregiver, before and after the rehabilitation process with an interval of 12 months. The results show that there were significant improvements in the functional aspects evaluated. In the area of self-care there scoring changed from53.65 to 60.06 in the first and second assessments, respectively. In the areaof mobility, the child’s score went from 24.29 to 38.66. The results suggestthat strategies used in the rehabilitation process, along with the help of amultidisciplinary team, enabled the development of occupational skills forbetter performance.

Risk factors analysis of white matter lesions of different degrees in the elderly aged 80 years and over / 中华老年医学杂志

Objective To investigate the independent risk factors of cerebral white matter lesions (WML) of different degrees in the elderly aged 80 years and over,and provide the evidences for forecasting the prognosis of WML.Methods Brain magnetic resonance images (MRI) findings in 151 people aged 74 to 93 years were collected and analyzed.According to the severity of WML in brain MRI using the Fazekas Scale,the persons were divided into non-WML (control) group,mildWML (grade 1 WML) group and moderate-to-severe WML (grade 2 WML) group.The cognitive score,vascular risk factors,cerebral hemodynamic and arteriosclerotic index,and radiological features were compared among the three groups.Subsequent one-way ANOVA and multivariate logistic analysis were performed to determine the statistically significant factors and the independent risk factors among groups.Results The statistically significant factors with one-way ANOVA analysis among the three groups were cognitive performance (F = 48.595,P = 0.000),hypertension (x2 =7.052,P=0.029),cigarette history (x2 = 19.476,P= 0.000),cholesterol (TC) (F= 3.086,P=0.049),Crouse score (F=3.968,P=0.021) and multiple cerebral atrophy indexes.When compared with control group,cigarette history (OR 2.031,95%CI 1.244-1.317),lacunar infarction (LI)numbers (OR 2.031,95%CI 1.316-4.015) and cholesterol (OR 1.610,95%CI 0.972-2.668) were independent risk factors in grade 1 WML group (all P＜0.05).The independent risk factors between grade 1 and 2 WML group were cognitive performance (OR 0.276,95%CI 0.143-0.532),cigarette history (OR 2.262,95% CI 1.260-4.059),and sylvian fissure ratio (SFR) (OR 1.954,95% CI 1.013-3.768) (all P＜0.05).The independent risk factors between the grade 2 WML group and control group were cognitive performance (OR 0.091,95%CI 0.030-0.273),bicoudate ratio (BCR)(OR 2.511,95%CI 1.147-5.499),Crouse score (OR 2.304,95%CI1.127-4.712)and LI numbers (OR 2.200,95%CI 1.028-4.707) (all P＜0.05).Conclusions Mild WML patients have no significant abnormalities in cognition,brain atrophy and cerebral atherosclerosis.Moderate to severe WML patients manifest remarkable cognitive disorder,cerebral atherosclerosis and brain atrophy.Compared with the controls,cognitive performance,BCR,Crouse score,LI numbers were the independent risk factors for moderate-severe WML patients.

Emotional memory impairment in patients with lesions in profronal cortex / 中华神经科杂志

Objective To investigate the emotional memory impairment in patients with lesions located in prefrontal cortex(PFC), and to test the hypothesis that prefrontal cortex is involved in the emotional memory network. Methods The 40 patients with lesions in PFC and forty age-education-level matched healthy adults were given emotional memory tasks using positive, neutral and negative valence images. Results Compared with the healthy adults(positively(11.68 ± 2. 18)and negatively(12. 93 ±1.33)), the patients had significant loss in positively(8. 20 ± 2.02)and negatively(8. 68 ± 1.14)valence image memorizing(t = 7.41, - 2. 75, both P ＜ 0. 05). There was no insignificant impairment in neutral stimuli. Performance difference between left PFC and right PFC in positively(8. 90 ±2. 01 vs 7.50 ± 1.79)and negatively(7.30 ± 1.10 vs 9. 05 ± 1. 00)valence image recognition was significant(Z = -2. 15,-2. 07,both P ＜ 0. 05). Conclusion The results suggest that emotional memory is impaired in the patients with lesions in PFC. The impairment difference between left PFC and right PFC indicates that they may have different neuromechanisms.

Clinical manifestation and MRI feature on three patients of toxic encephalopathy after inhaling caffeine and sodium benzoate / 中华神经科杂志

Objective To study the clinical manifestation and MRI feature of toxic encephalopathy after inhaling caffeine and sodium benzoate. Methods Three patients with toxic encephalopathy induced by inhaling caffeine and sodium benzoate were observed clinically and with MRI. Results The 3 patients were male. They all had definite addiction histories (the time of addiction for 3 years to 7 years ). There were special language and retropulsive dystonia besides the common characteristics of toxic encephalopathy:reaction retardation and disturbance of intelligence. MRI showed the change of generalized demyelination in bilateral symmetrical cerebral hemisphere, posterior limbs of internal capsule, corpus callosum, medial lemniscus, and cerebellum hemisphere dentate nucleus. The clinical symptoms of 3 patients were significantly improved 40 days after the adrenocortical steroid and neurotrophic treatment. The mild mood disorder remained in case 1. Conclusion Clinical manifestation and MRI of toxic encephalopathy after inhaling caffeine and sodium benzoate are known, so we could diagnose the patients of the disease in time.

Gastrostomias e fundoplicaturas: estudo retrospectivo de 5 anos em pacientes pediátricos no Hospital Municipal Jesus/RJ / Gastrostomy and fundoplication: a 5-year retrospective study at pediatric patients in Hospital Municipal Jesus/RJ

OBJETIVO: Analisar o quadro clínico, morbi-mortalidade e resultados da fundoplicatura gastroesofágica em crianças, com ênfase em portadores de encefalopatias crônicas. MÉTODO: Foram estudados retrospectivamente os prontuários de 55 pacientes em série, submetidos a fundoplicaturas e/ou gastrostomias por 5 anos (1994-1999), analisando manifestações clínicas, características epidemiológicas e evolução pós-operatória. Análises estatísticas, quando pertinentes, utilizaram o método do qui-quadrado. RESULTADOS: Manifestações respiratórias, pacientes com menos de seis meses e encefalopatas predominaram. Opistótono esteve relacionado a formas graves. A mortalidade até 30 dias foi de 7,3 por cento, significativamente maior em cardiopatas congênitos. Complicações imediatas da cirurgia foram basicamente atelectasias e pneumonias (14,6 por cento), relacionadas estatisticamente à desnutrição grave, e infecções da ferida (5,5 por cento). O índice de recorrência de Doença do Refluxo Gastro-Esofagiano foi de 14,5 por cento. O índice de pneumonias caiu de 65,5 por cento em pré-operatório para 16,5 por cento em pós-operatório tardio. Em média houve melhora nutricional a longo prazo, embora com ampla variação individual. CONCLUSÃO: É essencial manter um alto índice de suspeita para Doença do Refluxo Gastro-Esofagiano em lactentes e crianças encefalopatas com manifestações respiratórias. Nestes grupos a indicação cirúrgica é mais freqüente e bastante segura, exceto em presença de desnutrição grave e cardiopatia congênita. Opistótono é marcador de doença grave. Os resultados da cirurgia a longo prazo são favoráveis em crianças encefalopatas.

BACKGROUND: To study clinical characteristics, mortality, morbidity and results of fundoplicature with or without gastrostomy in children, emphasizing neurologically impaired patients. METHODS: We studied retrospectively medical documents of 55 successive patients operated on in a period of five years (1994-1999), analysing variables related to clinical manifestations, epidemiology and post-operative evolution. Statistical analysis, when applicable, were perfomed using qui-square method. RESULTS: Respiratory symptoms, less than 6-month old infants and neurologically impaired children predominated. Opisthotonus was related to severe forms of gastroesophageal reflux disease (GERD). Thirty day mortality was 7,3 percent, significantly worse for those with congenital cardiac disease. Precocious complications were basically atelectasis and pneumonia (14,6 percent),with positive correlation to pre-operative severe malnutrition and surgical infections (5,5 percent). GERD recurred in 14,5 percent. After six post-operative months follow-up, cumulative taxes for pneumonias were 16,5 percent, versus 65 percent pre-operatively. In general there was nutritional improvement, despite large individual variations. CONCLUSION: It is essential to maintain a high index of suspition for GERD in small infants and neurologically impaired children with respiratory symptoms. In these groups surgery is more frequently necessary and essentially safe, except for nutritionally depleted children and in presence of severe cardiac defects.Opisthotonus suggests severe GERD. Surgical results are very favourable even for neurologically impaired children.

Effects of Antenatal Dexamethasone on Cerebral Intra and Extra-cellular Calcium Concentrations in Asphyxiated Rat Fetuses / 中华围产医学杂志

Objective To investigate whether antenatal administration of dexamethasone would provide protection against cerebral hypoxic ischemic damage in asphyxiated fetal rats. Methods Fifty seven fetal rats of twenty day gestational age were randomly divided into five groups: sham operation (normal control, n =11), asphyxiated control (group E, n =10), and group D 1?D 2?D 3 of different timings of intravenous dexamethasone treatment (1 mg/kg) in pregnant SD rats ( n =15, 12, and 9 respectively). The times assigned for dexamethasone injection were thirty minutes before clamping, the time aroung clamping and the beginning of reperfusion respectively. Intra and extra cellular concentrations of calcium, sodium and potassium in fetal rat brains were measured in each group after thirty minutes of reperfusion. Results (1)Intracellular free calcium concentrations of fetal rat brains in group E,D 1, D 2 and D 3 were 552?94, 438?105, 445?57, and 456?110 nmol/L respectively, and all significantly higher than that in the normal control 315?87 nmol/L ( P

The Relationship Detween Interleukin-6 and Drain Bamage in the Neonatal Rats / 中华围产医学杂志

Objective To test whether IL 6 has any harmful effects on developing brain in neonatal rats, and try to illustrate its probable pathogenesis. Methods The neonatal rats were injected with different doses of rhIL 6 intravenously or intraventricularly. Animals were killed at 24 or 48 hours after injection to observe the pathological changes of brain tissues. Results Among animals killed at 24 hours after the intravenous injection with 1 000 U or 5 000 U rhIL 6, perivascular edema and ischaemic changes of neurons appear in their brain. There is no difference in the pathological changes in the brain of the rats treated with different doses. 72 hours after the intravenous injection, edema is still obvious, and ischaemic cell change in neurons aggravates into homogenizing cell change. When the brains are examined at 24 hours after intraventricular injection with 1 000 U rhIL 6, the pathological changes are the same as those treated by intravenous injection. Subarachnoid hemorrhage occurs more frequently in animals examined at 24 hours after 5 000 U rhIL 6 intraventricular injection than in those with intravenous injection. Besides, there appears local demyelination in the brain examined at 72 hours after the intraventricular injection of 5 000 u rhIL 6. Conclusion IL 6 by intravenous injection and intraventricular injection has harmful effects on the brain of neonatal rats.

The Changes of Cerebral Oxygenation and its Relation to Severity of Brain Demage After Neonatal Hypoxia / 中华围产医学杂志

Objective To investigate neonatal cerebral oxygenation after hypoxia.Methods Cerebral oxygenation of 39 babies with perinatal hypoxia and 42 neonates without hypoxia was ob- served under quiet state and stimulation of sound by Near Infrared Spectroscopy(NIRS) and com- paired with the findings of EEG and image studies.Results In normal neonates cerebral oxygena- tion was steady under quiet state,where as it increased after sound stimulation.However,newborns with hypoxia showed inhibited brain activities with little changes in cerebral oxygenation in response to sound stimuli.Episodes of deoxygenation were found in 13 cases during monitoring.Conclusion After perinatal hypoxic brain damage,the function of cerebral oxygenation can be still abnomal for a certain period,which is related to the degree of brain damage.

Diffusion tensor imaging of brain in relapsing neuromyelitis optica / 中华放射学杂志

Objective To investigate the presence of occult brain tissue damage in patients with relapsing neuromyelitis optica(RNMO)and its possible mechanism by using diffusion tensor imaging (DTI).Methods DTI scans were performed in 16 patients with RNMO and 16 sex-and age-matched healthy controls.Histogram analysis of mean diffusivity (MD)and fractional anisotropy (FA)was performed in brain tissue (BT),white matter (WM)and gray matter (GM)to detect the presence of occult brain tissue damage in RNMO patients.Region of interest(ROI )analysis of MD and FA was also performed in 6 dedicated regions with or without direct connection with spinal cord or optic nerve to determine the relationship between occult brain tissue damage and the damage of spinal cord and optic nerve.Results Patients with RNMO had a significantly higher average MD of the BT[RNMO(0.95?0.02)? 10~(-3)mm~2/s,controls (0.91?0.03)?10~(-3)mm~2/s,t = 3.940,P