Pediatric intracranial aneurysms in a Southern Brazilian population.

INTRODUCTION: Intracranial aneurysms are rare in the pediatric population, and their diagnosis can be challenging. They differ from their adult counterparts in several aspects, and hemorrhage is the most common presentation. OBJECTIVE: To evaluate clinical data, aneurysm characteristics, and therapeutic results in a series of patients younger than 19 years of age with intracranial aneurysms. METHOD: A retrospective cross-sectional observational study design analyzed medical records and imaging studies. Variables included age, sex, clinical presentation, comorbidities, aneurysmal characteristics, treatment modality, and clinical outcomes. RESULTS: We identified 15 intracranial aneurysms in 11 patients (6 male), with ages ranging from 3 months to 15 years (mean age 5.2 years). Five patients had associated medical conditions, and hemorrhage was the most frequent clinical presentation (45%). Three patients (27%) had multiple aneurysms, and seven aneurysms were fusiform or dysplastic. The internal carotid artery was the most affected site, involved in 47% of cases. Aneurysm size ranged from 2 to 60 mm (mean 16.8 mm), with giant aneurysms in 27%. Seven patients were treated with endovascular procedures, while three aneurysms were clipped. Symptomatic vasospasm requiring angioplasty occurred in two patients and led to worse outcomes. One patient died due to severe aspiration pneumonia and sepsis that precluded treatment. Good functional outcome (modified Rankin scale - mRS ≤ 2) was achieved in all treated patients (91%). CONCLUSION: The patients with aneurysms in this series were mostly male, presented mostly hemorrhagic syndromes, and mainly had internal carotid artery involvement. The outcome of treated patients was favorable, regardless of treatment modality.

Angiopathy and Stroke Associated with Homocystinuria in Childhood.

A previously healthy 13 year-old boy presented with acute-onset headaches, aphasia and right-sided hemiparesis. Imaging showed cerebral ischemic infarction due to bilateral carotid occlusion, and investigation for stroke etiology diagnosed homocystinuria. Homocystinuria is an autosomal recessive condition that affects the metabolism of the amino acid methionine due to an enzyme deficiency. This disorder involves multiple organs systems, and complications include thromboembolic events, ectopia lentis, mental retardation, and skeletal abnormalities. The early diagnosis and treatment of hyperhomocystinemia can significantly improve outcomes. Therefore, metabolic screening for homocystinuria is strongly recommended for children presenting with stroke.

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism

Abstract Objectives: To describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education. Methods: Observational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III). Estimated FSIQ scores are described and correlated with prognosis determinants. Results: Median T4 at diagnosis was 2.8 µg/dL (0.0-16.5), the median age at the start of treatment was 18.5 days (3-309). Maternal education (n = 445): 2.7% of illiteracy, 59.8% with basic education. Estimated FSIQ scores were 88.0 (±11.8) in WPPSI-R (age 5.6 ± 0.5 years) and 84.1 (±13.0) in WISC-III (age 9.1 ± 1.4 years). The intellectual deficit was identified in 11.6%. Correlation between age at the start of treatment and estimated FSIQ was found only in the WPPSI-R test (p = 0.02). Initial T4 and maternal education significantly correlated with estimated FSIQ scores in both tests, with the latter being the most important determining factor. Conclusions: In this large cohort of mainly low socioeconomic status children, most children achieved normal cognitive levels; however, a significant percentage presented with below-average estimated FSIQ scores and intellectual deficits. Maternal education was the main determining factor in cognitive level followed by hypothyroidism severity.

Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement.

Growth hormone (GH) has been used for over 35 years, and its safety and efficacy has been studied extensively. Experimental studies showing the permissive role of GH/insulin-like growth factor 1 (IGF-I) in carcinogenesis have raised concerns regarding the safety of GH replacement in children and adults who have received treatment for cancer and those with intracranial and pituitary tumours. A consensus statement was produced to guide decision-making on GH replacement in children and adult survivors of cancer, in those treated for intracranial and pituitary tumours and in patients with increased cancer risk. With the support of the European Society of Endocrinology, the Growth Hormone Research Society convened a Workshop, where 55 international key opinion leaders representing 10 professional societies were invited to participate. This consensus statement utilized: (1) a critical review paper produced before the Workshop, (2) five plenary talks, (3) evidence-based comments from four breakout groups, and (4) discussions during report-back sessions. Current evidence reviewed from the proceedings from the Workshop does not support an association between GH replacement and primary tumour or cancer recurrence. The effect of GH replacement on secondary neoplasia risk is minor compared to host- and tumour treatment-related factors. There is no evidence for an association between GH replacement and increased mortality from cancer amongst GH-deficient childhood cancer survivors. Patients with pituitary tumour or craniopharyngioma remnants receiving GH replacement do not need to be treated or monitored differently than those not receiving GH. GH replacement might be considered in GH-deficient adult cancer survivors in remission after careful individual risk/benefit analysis. In children with cancer predisposition syndromes, GH treatment is generally contraindicated but may be considered cautiously in select patients.

Cervical Disorders in Mucopolysaccharidosis IVA-Morquio disease.

Morquio disease or mucopolysaccharidosis type IVA (Online Mendelian Inheritance in Man No. 253000) is a rare autosomal recessive disease classified in the group of metabolism inborn errors. The glycosaminoglycans accumulate in chondrocytes, which disturbs bone growth and leads to skeletal manifestations, such as skeletal dysplasia and a short stature. In addition, the disproportionate growth of the trachea can lead to airway insufficiency. We report the case of a 27-year-old man with dwarfism due to Morquio disease, which had resulted in quadriparesis, hyperreflexia, and dyspnea, requiring a "look up to the sky" compensatory position. Imaging studies of the neck showed tracheal tortuosity, spinal stenosis, myelopathy, and neurogenic arthropathy (Charcot joint). The patient was treated with occipital-cervical-thoracic instrumentation. However, postoperative tracheal correction was required. Considering the wide spectrum of clinical features in those with mucopolysaccharidosis type IVA, individualized multidisciplinary treatment is recommended.

Safety of growth hormone (GH) treatment in GH deficient children and adults treated for cancer and non-malignant intracranial tumors-a review of research and clinical practice.

Individuals surviving cancer and brain tumors may experience growth hormone (GH) deficiency as a result of tumor growth, surgical resection and/or radiotherapy involving the hypothalamic-pituitary region. Given the pro-mitogenic and anti-apoptotic properties of GH and insulin-like growth factor-I, the safety of GH replacement in this population has raised hypothetical safety concerns that have been debated for decades. Data from multicenter studies with extended follow-up have generally not found significant associations between GH replacement and cancer recurrence or mortality from cancer among childhood cancer survivors. Potential associations with secondary neoplasms, especially solid tumors, have been reported, although this risk appears to decline with longer follow-up. Data from survivors of pediatric or adult cancers who are treated with GH during adulthood are scarce, and the risk versus benefit profile of GH replacement of this population remains unclear. Studies pertaining to the safety of GH replacement in individuals treated for nonmalignant brain tumors, including craniopharyngioma and non-functioning pituitary adenoma, have generally been reassuring with regards to the risk of tumor recurrence. The present review offers a summary of the most current medical literature regarding GH treatment of patients who have survived cancer and brain tumors, with the emphasis on areas where active research is required and where consensus on clinical practice is lacking.

Prenatal Diagnosis of Vein of Galen Aneurysmal Malformation Allows Early Transumbilical Endovascular Treatment

Neonates with vein of Galen aneurysmal malformation (VGAM) presenting with severe cardiac failure and pulmonary hypertension represent a challenge for endovascular therapy.When early treatment is required, the small femoral arteries in this population are usually difficult to cannulate. Alternatively, the umbilical vessels offer a natural pathway to reach the lesion. Therefore, prenatal diagnosis of VGAM allows for delivery planning, perinatal management, and embolization through umbilical approach, thus leading to better outcomes.

Postnatal management of growth failure in children born small for gestational age / Manejo pós-natal da falha de crescimento em crianças nascidas pequenas para a idade gestacional

Abstract Objectives: To discuss the etiology and growth consequences of small size at birth and the indications, effects, and safety of biosynthetic growth hormone therapy in children born small for gestational age. Source of data: A comprehensive and non-systematic search was carried out in the PubMed, LILACS, and SciELO databases from 1980 to the present day, using the terms "small for gestational age," "intrauterine growth restriction," and "growth hormone". The publications were critically selected by the authors. Data synthesis: Although the majority of children born small for gestational age show spontaneous catch-up growth during the first two years of life, some of them remain with short stature during childhood, with high risk of short stature in adult life. Treatment with growth hormone might be indicated, preferably after 2-4 years of age, in those small for gestational age children who remain short, without catch-up growth. Treatment aims to increase growth velocity and to reach a normal height during childhood and an adult height within target height. Response to growth hormone treatment is variable, with better growth response during the pre-pubertal period. Conclusions: Treatment with growth hormone in short children born small for gestational age is safe and effective to improve adult height. Efforts should be done to identify the etiology of small size at birth before treatment.

Resumo Objetivos: Discutir a etiologia e as consequências para o crescimento e as indicações, os efeitos e a segurança da terapia com hormônio de crescimento biossintético em crianças pequenas para idade gestacional. Fonte dos dados: Uma busca abrangente e não sistemática foi feita nas bases de dados PubMed, LILACS e SciELO de 1980 até a presente data, com os termos "small for gestational age" (pequeno para a idade gestacional), "intrauterine growth restriction" (restrição de crescimento intrauterino) e "growth hormone" (hormônio do crescimento). As publicações foram selecionadas criticamente pelos autores. Síntese dos dados: Embora a maioria das crianças nascidas pequenas para idade gestacional apresente recuperação espontânea do crescimento durante os dois primeiros anos de vida, algumas delas permanecem com baixa estatura durante a infância, com alto risco de baixa estatura na vida adulta. O tratamento com hormônio de crescimento pode ser indicado, preferencialmente após os dois aos quatro anos, naquelas crianças sem recuperação espontânea do crescimento e com baixa estatura. Seus objetivos são aumentar a velocidade de crescimento e atingir uma altura normal durante a infância e uma altura adulta dentro da altura-alvo. A resposta ao tratamento com hormônio de crescimento é variável, com melhor resultado se iniciado durante o período pré-puberal. Conclusões: O tratamento com hormônio de crescimento em crianças baixas nascidas pequenas para idade gestacional é seguro e eficaz para melhorar a estatura adulta. Esforços devem ser feitos para identificar a etiologia do nascimento pequenas para idade gestacional antes do tratamento.

Crescimento de crianças nascidas prematuras / Growth of preterm-born children

Crianças nascidas prematuras podem passar por um período de restrição do crescimento logo após o nascimento. A normalização do crescimento tem início nos primeiros meses de vida, podendo ocorrer de forma lenta e progressiva. Muitas vezes essas crianças mantêm-se mais baixas e com menor peso durante toda a infância quando comparadas àquelas nascidas a termo. Em alguns casos, a recuperação completa só ocorre na adolescência. Entretanto, algumas crianças não conseguem recuperar totalmente o ganho de peso e altura, e adultos nascidos prematuros apresentam maior risco de baixa estatura. O comprometimento do crescimento é mais significativo naquelas nascidas prematuras e pequenas para a idade gestacional. Fatores como estatura-alvo, peso ao nascimento, idade gestacional, intercorrências neonatais e escolaridade materna interferem no potencial de crescimento. Especial atenção deve ser dada aos nascidos prematuros durante todo o período de crescimento.

Children born prematurely might experience a period of growth restriction just after birth. Catch-up growth begins during the first months of life and can be slow and progressive. These children may remain shorter and thinner throughout infancy and childhood compared to children born at term. In some cases, complete catch-up growth occurs only during adolescence. However, some children do not completely recover growth, and adults born prematurely are at increased risk of short stature. Impaired growth is more frequent in those born preterm and small for gestational age. Factors such as target height, birth weight, gestational age, neonatal morbidities and maternal education interfere in growth potential. Special attention should be given to children born preterm during the whole growth period.

Perfil clínico e laboratorial de pacientes pediátricos e adolescentes com diabetes tipo 1 / Clinical and laboratory profile of pediatric and adolescent patients with type 1 diabetes

OBJETIVO: Realizar a avaliação clínica e laboratorial dos pacientes com diabetes melito tipo 1 em três hospitais públicos em São Paulo (SP), uma vez que o diabetes melito tipo 1 é uma doença crônica que ocorre principalmente em crianças e adolescentes. MÉTODOS: Estudo transversal com pacientes em acompanhamento em centros de referência em São José do Rio Preto (FAMERP), Campinas (UNICAMP) e São Paulo (Conjunto Hospitalar do Mandaqui). Dados como gênero, idade, duração do diabetes, dose diária de insulina, número de aplicações diárias de insulina e hemoglobina glicosilada (HbA1c) foram analisados. RESULTADOS: Foram avaliados 239 pacientes (131 do sexo feminino); a idade média foi de 13,1±4,7 anos e o tempo médio de duração do diabetes foi de 6,6±4,2 anos. As doses diárias de insulina variaram de 0,1 a 1,78 unidades/kg/dia (0,88±0,28), e 180 (74,7 por cento) pacientes faziam somente duas aplicações por dia. A HbA1c variou de 4,6 a 17,9 por cento (10,0±2,3 por cento). CONCLUSÕES: Embora os hospitais incluídos neste estudo sejam centros de referência para o seguimento de pacientes com diabetes melito em três cidades do estado de São Paulo, um dos estados mais desenvolvidos do Brasil, o controle da glicemia avaliado através da HbA1c não foi adequado. Isso confirma o fato de que, embora haja esforço de todos os profissionais envolvidos, grandes desafios ainda deverão ser vencidos.

OBJECTIVE: To evaluate clinical and laboratory profiles of patients with type 1 diabetes mellitus in three public hospitals in São Paulo, Brazil, since type 1 diabetes mellitus is a chronic illness that occurs mainly in the pediatric age group in the Brazilian population. METHODS: Cross-sectional study with patients followed up in reference centers in São José do Rio Preto (FAMERP), Campinas (UNICAMP) and São Paulo (Conjunto Hospitalar do Mandaqui). Data about gender, age, diabetes duration, daily insulin dose, number of daily insulin injections, and glycosylated hemoglobin (HbA1c) were analyzed. RESULTS: Two hundred and thirty-nine patients (131 females) were evaluated; mean age was 13.1±4.7 years and mean diabetes duration was 6.6±4.2 years. Daily insulin doses ranged from 0.1 to 1.78 units/kg/day (0.88±0.28), and 180 (74.7 percent) patients had two daily injections. HbA1c ranged from 4.6 to 17.9 percent (10.0±2.3 percent). CONCLUSIONS: Although the hospitals included in this study are excellence centers for the follow-up of patients with diabetes in three municipalities in the state of São Paulo, one of the most developed states in Brazil, blood glucose control evaluated according to HbA1c was not adequate. Findings confirm that, despite the efforts of all the professionals involved, great challenges still lie ahead.

Prevalência de obesidade em crianças e adolescentes com diabetes melito tipo 1 / Prevalence of obesity in children and adolescents with type 1 diabetes mellitus

OBJETIVO: Conhecer a prevalência de obesidade e sua distribuição por sexo e idade em pacientes com diabetes melito tipo 1 (DM1), em acompanhamento em Serviço de Endocrinologia Pediátrica. MÉTODOS: Estudo transversal descritivo de pacientes em acompanhamento no Serviço de Endocrinologia Pediátrica do Hospital de Base de São José do Rio Preto, avaliando as seguintes variáveis: sexo, idade, dose e número de aplicações diárias de insulina, hemoglobina glicada (HbA1c), peso, estatura e índice de massa corpórea (IMC). A definição de sobrepeso e obesidade baseou-se nas curvas de IMC para a idade do Centers for Disease Control and Prevention (CDC, 2000). RESULTADOS: Foram incluídos 77 portadores de DM1 (44 meninas e 33 meninos) com idade entre três e 18 anos (média: 13,4). A determinação de HbA1c variou de 4,1 a 10,6 por cento (média: 7,7 por cento) e o IMC, de 15,1 a 28,6 kg/m² (média: 23,2). Conforme critérios do CDC, 8 por cento dos pacientes (três meninas e três meninos) apresentavam obesidade e 8 por cento (duas meninas e quatro meninos), sobrepeso. CONCLUSÕES: Nesta casuística de pacientes diabéticos, a prevalência de sobrepeso e obesidade não se mostrou diferente de populações não diabéticas.

OBJECTIVE: To describe the prevalence of obesity according to gender and age in patients with type 1 diabetes mellitus of a pediatric endocrinology follow-up clinic. METHODS: This cross-sectional descriptive study enrolled patients of the follow-up clinic of the Pediatric Endocrinology Unit of Hospital de Base of São José do Rio Preto, São Paulo, Brazil. The following data were collected: gender, age, insulin dosage, glycated hemoglobin (HbA1c), weight, height and body mass index (BMI). The cutoff criteria for overweight and obesity were based on BMI-for-age growth charts of the Centers for Disease Control and Prevention (CDC, 2000). RESULTS: 77 patients with type 1 diabetes mellitus were included (44 females and 33 males), with three to 18 years old (mean: 13.4). The value of HbA1c varied from 4.1 to 10.6 percent (mean: 7.7 percent) and the BMI ranged from 15.1 to 28.6 kg/m² (average: 23.2). Based on BMI charts, 8 percent (three girls and three boys) were obese and 8 percent (two girls and four boys) had overweight. CONCLUSION: Compared to the prevalence of obesity and overweight in non-diabetic pediatric population, the presence of these nutritional disturbances in the studied children was not significantly different.