Marcio Moacyr Vasconcelos

Diffusion Tensor Imaging Findings in School-Aged Autistic Children

To analyze and compare cerebral white matter tracts through diffusion tensor imaging in autistic and normal children.

Early diagnosis of pediatric wernicke’s encephalopathy

Wernickes encephalopathy may be fatal if untreated. Because Wernickes encephalopathy is suspected to be underdiagnosed in children, the authors wished to assess the frequency of overlooked diagnosis and to establish pertinent findings that could lead to early identification of pediatric Wernickes encephalopathy. The authors performed multiple literature searches seeking pediatric patients with Wernickes encephalopathy (age = 20 years or younger). A total of 30 patients was found, and the authors added a new patient. Each case report had its clinical, radiologic, and laboratory data, diagnostic method, and outcome analyzed. Of 31 patients, 16 were female and 15 male; the median age +/- S.D. was 11 +/- 6.5 years. The most frequent underlying disorder was malignancy in 11. Thirteen patients died undiagnosed, 16 recovered with thiamine therapy (eight with sequelae), and two died of infection soon after thiamine replacement was initiated. Only six presented with the Wernickes encephalopathy clinical triad (mental status changes, ocular signs, and ataxia) at neurologic onset; nine eventually demonstrated this triad. The high rate of patients diagnosed only at postmortem examination (41.9%) confirms that Wernickes encephalopathy is underdiagnosed in children. Thiamine therapy is warranted if any component of the Wernickes encephalopathy triad is present in an appropriate clinical setting.

Prevalência do transtorno de déficit de atenção/hiperatividade numa escola pública primária

OBJECTIVE: To define the prevalence of attention deficit/hyperactivity disorder (ADHD) in a sample school-aged children from a public elementary school. METHOD: The study population was composed of all pupils who attended the first five grades at a public state school. During the first stage, school teachers and parents filled a standardized questionnaire of 18 ADHD symptoms defined at DSM-IV. In the second stage, children who screened positive and their parents were invited for a medical visit at school. After signature of an informed consent, the following procedures were done: DSM-IV symptoms questionnaire, oriented history, physical exam and neurologic exam. ADHD diagnosis was subdivided into three types: predominantly hyperactive (H), predominantly inattentive (ADD), and mixed type ADD + H. RESULTS: Among 403 pupils recruited in the first stage, 108 screened positive. Of these, 101 were assessed. There were 68 boys and 33 girls. Median age was 9 years (Range, 6-15 years; standard deviation, 1.99). ADHD diagnosis was defined for 69 pupils (17.1%), including 27 children (39.1%) with ADD, 26 children (37.7%) with ADD + H, and 16 children (23.2%) with H without ADD. Among children who received a diagnosis of ADHD, 45 (65.2%) were boys and 24 (34.8%) were girls (ratio 1.9:1). CONCLUSION: ADHD prevalence in a sample of 403 school-aged children from a public elementary school was 17.1%.

Proton magnetic resonance spectroscopy in school-aged autistic children.

This study aims to assess cerebral metabolites in school‐aged autistic patients through proton magnetic resonance spectroscopy.

Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1.

Background: Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1). These are usually astrocytic hamartomas or angiomas. Combined hamartoma of the retina and retinal pigment epithelium are tumors also described in NF-1, but this association has not been definitively established yet. Method: We report on a child with NF-1, who presented a combined hamartoma of the retina and retinal pigment epithelium in both eyes. Results: The diagnosis of bilateral combined hamartoma of the retina and retinal pigment epithelium in our patient was performed on the basis of the ophthalmoscopic appearance of the lesions. NF-1 was diagnosed following the current international clinical criterion, supplemented by neuroimaging findings. Conclusion: Despite the extreme rarity of this association, we believe that it is not coincidental, as the presence of a hamartomatous retinal lesion in a patient with a systemic hamartomatous neuroectodermic disease would be, at least, rational. Thus, NF-1 must be excluded in patients with combined hamartoma of the retina and retinal pigment epithelium.

Proton magnetic resonance spectroscopy in children with fetal alcohol spectrum disorders

OBJECTIVE To analyze the metabolic constitution of brain areas through proton magnetic resonance spectroscopy in children affected with fetal alcohol spectrum disorder compared with normal children. METHOD The sample of this case-control study included eight boys with epidemiologic history of in utero exposure to alcohol (median age 13.6+/-3.8 years) who were diagnosed with fetal alcohol spectrum disorder, and eight controls (median age 12.1+/-3,4 years). An 8 cm(3) single voxel approach was used, with echo time 30 ms, repetition time 1500 ms, and 128 acquisitions in a 1.5T scanner, and four brain areas were analyzed: anterior cingulate, left frontal lobe, left striatum, and left cerebellar hemisphere. Peaks and ratios of metabolites N-acetylaspartate, choline, creatine, and myo-inositol were measured. RESULTS Children with fetal alcohol spectrum disorder showed a decrease in choline/creatine ratio (p=0.020) in left striatum and an increase in myo-inositol/creatine ratio (p=0.048) in left cerebellum compared with controls. There was no statistically significant difference in all peaks and ratios from the anterior cingulate and frontal lobe between the two groups. CONCLUSION This study found evidence that the left striatum and left cerebellum are affected by intrauterine exposure to alcohol. Additional studies with larger samples are necessary to expand our knowledge of the effects of fetal exposure to alcohol.

Walker-Warburg syndrome: report of two cases

The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD). They were studied in their clinical, laboratory, and neuroradiologic features. The index case had a brain magnetic resonance imaging (MRI) and the second patient had a head computerized tomography (CT). In addition, a literature review was performed to describe the main forms of CMD. The index case fulfilled all criteria for WWS. A brain MRI performed at age 4 months served to corroborate the clinical diagnosis, showing severe hydrocephalus, type II lissencephaly, cerebellar vermian aplasia, and a hypoplastic brain stem. The authors were able to establish a retrospective diagnosis of WWS in the index cases older sister, based upon her clinical picture and head CT report.

Dieta cetogênica para epilepsia intratável em crianças e adolescentes: relato de seis casos

OBJETIVO: Descrever a introducao e o manejo da dieta cetogenica em um grupo de seis criancas e adolescentes com epilepsia refrataria. METODOS: Os autores reviram o prontuario medico de cada paciente menor de 15 anos submetido a dieta cetogenica entre abril de 1999 e julho de 2003 e compararam os resultados terapeuticos e efeitos adversos e beneficos com a literatura pertinente. RESULTADOS: A dieta cetogenica foi introduzida para seis pacientes, com idade mediana de sete anos (faixa: 1,8-12,2). A duracao media da aplicacao da dieta foi 9,7 meses (faixa: 7 dias-4 anos). Observou-se uma reducao igual ou maior que 50% da frequencia das crises epilepticas em metade dos casos. As complicacoes observadas foram leucopenia, constipacao, desidratacao, priapismo e recorrencia das crises epilepticas. CONCLUSOES: A dieta cetogenica foi eficaz e segura em tres pacientes de uma serie de seis casos com epilepsia intratavel. A complicacao mais comum foi leucopenia.

Complicações cardiovasculares em criança com insuficiência renal crônica

This is the report of an 11-year-old boy with chronic renal disease and secondary hyperparathyroidism. The child had been on dialysis, calcitriol, calcium carbonate, and presented dyslipidemia and calcified thrombi in various vessels and organs in the course of his condition. Pathological examination showed ischemic cerebral necrosis, calcification in coronary arteries, and myocardial infarction.

Neurocysticercosis in a preschool-age child: case report

Neurocysticercosis is a frequent cause of epilepsy and other neurologic abnormalities in all age groups, however by virtue of its prolonged incubation period as well as young childrens nutritional habits, it is rarely seen in preschool-age children. The objective of this study is to report the case of a 2 year-old child who presented with new-onset seizures. Her diagnostic features, including neuroradiologic findings, are described and compared with the literature. No matter how young he or she may be, every child who presents with new-onset seizures or other unexplained neurologic features and whose CT or MRI shows cystic lesions or contrast-enhancing rounded lesions should raise a suspicion of neurocysticercosis.