Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.

INTRODUCTION: Mucopolysaccharidosis type VI (MPS VI) is a rare lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine 4-sulfatase. MPS VI is usually considered as not being associated with mental retardation. AIMS/METHODS: The main objective of the present study was to describe brain magnetic resonance imaging (MRI) findings and their correlation with clinical and biochemical findings in MPS VI patients. The study was conducted at Hospital de Clínicas de Porto Alegre, Brazil with 25 MPS VI patients. All patients were evaluated through clinical evaluation, IQ tests, urinary glycosaminoglycans (GAG) analysis, and brain MRI. RESULTS: Mean age at evaluation was 10.6 ± 4.52 years. Five of 16 patients presented total IQ below the normal range. Brain MRI was abnormal in the majority of patients (n = 19/21), and the most frequent abnormalities found were the presence of dilated perivascular spaces and white matter lesions. Correlations were found between age and normalized white matter lesion load (NLL) (r = 0.46; p = 0.04) and normalized cerebral volume (NCV) (r = -0.56; p = 0.01), between NLL and height deficit (r = 0.48; p = 0.04), and between NCV and weight deficit (r = -0.58; p = 0.01) and height deficit (r = -0.55; p = 0.01). A correlation between urinary GAG levels and quantitative brain MRI findings was not found, neither between qualitative and quantitative brain MRI findings and IQ scores. CONCLUSIONS: MPS VI patients may present abnormal IQ scores without correlation with brain abnormalities on the MRI, a finding which was found to be very frequent in MPS VI. Additional studies are required to confirm our findings.

Intrathyroidal thymic tissue mimicking a thyroid nodule in a 4-year-old child.

A 4 year-old girl was referred for CT of her neck for suspected submental lymphadenopathy and was found to have an incidental low-attenuation thyroid mass. Subsequent thyroid ultrasound showed a heterogeneous thyroid mass with punctate areas of increased echogenicity. Cytologic examination was consistent with ectopic intrathyroidal thymic nodule. We review the presentation of ectopic thymic tissue, especially in the thyroid gland.

Morphometric differences in the Heschl's gyrus of hearing impaired and normal hearing infants.

This study investigates the morphometry of Heschl's gyrus and its included primary auditory cortex (PAC) in hearing impaired (HI) and normal hearing (NH) infants. Fourty-two infants, age 8-19 months, with NH (n = 26) or hearing impairment (n = 16) were studied using high-resolution 3D magnetic resonance imaging. Gray matter (GM) and white matter (WM) volumes were obtained using software for automatic brain imaging segmentation to estimate the volume of each tissue within manually defined regions for the anterior portion of Heschl's gyrus (aHG) in each individual subject, transformed to an infant brain template space. Interactions among group (HI, NH), tissue type (GM, WM), and hemisphere (left, right) were examined using analysis of variance. Whole-brain voxel-based morphometry was utilized to explore volume differences between groups across the entire brain. The HI group showed increased GM and decreased WM in aHG compared with the NH group; likely effects of auditory deprivation. The HI group did not exhibit their typical L > R asymmetry pattern that the NH group showed. Increased GM in aHG in HI infants may represent abnormal cortical development in PAC as seen in animal models of sensory deprivation. Lower WM volume is consistent with studies with deaf adults.

[Bronchoscopic removal of foreign body from airway through tracheotomy or tracheostomy]. / Remoção de corpo estranho da via aérea de criança por broncoscopia através de traqueotomia ou traqueostomia.

OBJECTIVE: Most foreign bodies in the airway are removed by respiratory endoscopy. Rarely, the removal of the foreign body has to be performed through endoscopic control by tracheotomy or tracheostomy. This article reports three cases of foreign body removal in children performed by tracheal opening. DESCRIPTION: Retrospective review of records with report of three cases of children who aspirated foreign bodies into the airway. In the first case, there was rupture of the tracheostomy tube, with aspiration of its distal portion. Endoscopic removal was performed by tracheostomy. The second child aspirated a pen cap. It could not be removed by endoscopy because it would not pass through the subglottic region. Cervical tracheotomy was performed and the foreign body was removed with endoscopic control. In the last case, the foreign body was in the left main bronchus. It was removed by bronchoscopy through tracheostomy opening. All children presented good outcome after the endoscopic procedure. The trachea of the patient submitted to tracheotomy was sutured after the foreign body removal. Tracheostomy was not necessary. In the children with previous tracheostomy, the tube was put back after the foreign body removal. COMMENTS: Most foreign bodies in the airway of children can be removed by endoscopy. When the foreign body is too large to pass through the subglottic region, or so sharp that it can injure the airway, the use of tracheotomy or tracheostomy is indicated.

Risk factors for cardiovascular disease ten years after preeclampsia.

CONTEXT AND OBJECTIVE: Preeclampsia is a gestational disease that occurs mainly among nulliparous women after the 20th week of gestation, and frequently close to delivery. The effects of preeclampsia on women's blood pressure over the long term are still controversial. Patients with recurrent preeclampsia or preeclampsia in the early stages of pregnancy appear to present higher risk of hypertension. The aim of this study was to determine the risk factors for cardiovascular disease among women with preeclampsia 10 years earlier. DESIGN AND SETTING: Cross-sectional study at Hospital de Clínicas de Porto Alegre (HCPA). METHODS: Forty women with preeclampsia and 14 normotensive pregnant women followed up 10 or more years earlier at HCPA underwent clinical and laboratory examinations. Spearman's correlation coefficient was used to correlate body mass index (BMI) and systolic and diastolic pressures. The risk of developing hypertension was measured using the chi-square test. P < 0.05 was considered significant. RESULTS: The patients with preeclampsia 10 or more years earlier had significantly higher diastolic blood pressure (P = 0.047), BMI (P = 0.019) and abdominal circumference (P = 0.026). They presented positive correlations between BMI and diastolic blood pressure (0.341; P = 0.031) and between BMI and systolic blood pressure (0.407; P = 0.009). CONCLUSION: The patients with preeclampsia 10 or more years earlier had significantly higher diastolic blood pressure, BMI and abdominal circumference than did the control group. This emphasizes the importance of long-term follow-up assessment for cardiovascular risk factors among patients with preeclampsia.

Risk factors for cardiovascular disease ten years after preeclampsia / Fatores de risco para doença cardiovascular dez anos após pré-eclâmpsia

CONTEXT AND OBJECTIVE: Preeclampsia is a gestational disease that occurs mainly among nulliparous women after the 20th week of gestation, and frequently close to delivery. The effects of preeclampsia on women's blood pressure over the long term are still controversial. Patients with recurrent preeclampsia or preeclampsia in the early stages of pregnancy appear to present higher risk of hypertension. The aim of this study was to determine the risk factors for cardiovascular disease among women with preeclampsia 10 years earlier. DESIGN AND SETTING: Cross-sectional study at Hospital de Clínicas de Porto Alegre (HCPA). METHODS: Forty women with preeclampsia and 14 normotensive pregnant women followed up 10 or more years earlier at HCPA underwent clinical and laboratory examinations. Spearman's correlation coefficient was used to correlate body mass index (BMI) and systolic and diastolic pressures. The risk of developing hypertension was measured using the chi-square test. P < 0.05 was considered significant. RESULTS: The patients with preeclampsia 10 or more years earlier had significantly higher diastolic blood pressure (P = 0.047), BMI (P = 0.019) and abdominal circumference (P = 0.026). They presented positive correlations between BMI and diastolic blood pressure (0.341; P = 0.031) and between BMI and systolic blood pressure (0.407; P = 0.009). CONCLUSION: The patients with preeclampsia 10 or more years earlier had significantly higher diastolic blood pressure, BMI and abdominal circumference than did the control group. This emphasizes the importance of long-term follow-up assessment for cardiovascular risk factors among patients with preeclampsia.

CONTEXTO E OBJETIVO: Pré-eclâmpsia é uma doença gestacional que ocorre principalmente em mulheres nulíparas, após a vigésima semana de gestação e frequentemente próximo do parto. Os efeitos da pré-eclâmpsia sobre a pressão sanguínea das mulheres a longo prazo ainda são controversos. Pacientes com pré-eclâmpsia recorrente ou pré-eclâmpsia na fase inicial da gestação parecem apresentar maior risco para hipertensão. O objetivo foi determinar os fatores de risco para doença cardiovascular em mulheres com pré-eclâmpsia há 10 anos. TIPO DE ESTUDO E LOCAL: Estudo transversal, realizado no Hospital de Clínicas de Porto Alegre (HCPA). MÉTODO: Quarenta mulheres com pré-eclâmpsia e 14 mulheres grávidas com pressão arterial normal acompanhadas há 10 anos ou mais no HCPA foram submetidas a exames clínicos e laboratoriais. Para se encontrar a correlação entre índice de massa corporal (IMC) e as pressões sistólica e diastólica, foi calculado o coeficiente de correlação de Spearman. O risco de desenvolvimento de hipertensão foi calculado através do teste de qui-quadrado. P < 0,05 foi considerado significante. RESULTADOS: Pacientes com pré-eclâmpsia há 10 anos ou mais tiveram pressão arterial diastólica (PAD) (P = 0,047), IMC (P = 0,019) e circunferência abdominal (P = 0,026) mais elevadas e apresentaram correlações positivas entre IMC e PAD (0,341, P = 0,031) e sistólica (0,407, P = 0,009). CONCLUSÃO: As pacientes com pré-eclâmpsia há 10 anos ou mais apresentaram pressão arterial diastólica, IMC e circunferência abdominal mais elevadas que o grupo controle. Isso enfatiza a importância de acompanhamento por longo tempo para avaliar fatores de risco cardiovascular em pacientes com pré-eclâmpsia prévia.

Tumores do mediastino em crianças / Mediastinal tumors in children

INTRODUÇAO: Os tumores mediastinais na criança compreendem um grupo heterogêneo de lesões com origem embrionária distinta. Podem apresentar-se como cistos benignos ou lesões malignas. OBJETIVO: Descrever os procedimentos diagnósticos, tratamento e evolução de uma série de crianças e adolescentes com tumores do mediastino. MÉTODO: Análise retrospectiva de vinte crianças com tumores de mediastino, no período de julho de 1996 a julho de 2002 no Hospital de Clínicas de Porto Alegre. Todos os pacientes foram submetidos a algum procedimento cirúrgico, seja diagnóstico, terapêutico ou ambos. RESULTADOS: Doze meninos e oito meninas foram estudados. A idade média no momento do diagnóstico foi de seis anos e oito meses, variando entre três meses e 16 anos. Quatorze tumores (70%) ocorreram no mediastino anterior, sendo os mais comuns os linfomas de Hodgkin e não-Hodgkin; seis tumores (30%) ocorreram no mediastino posterior, sendo o neuroblastoma o mais freqüente. Nos tumores anteriores, a abordagem cirúrgica mais comum foi a toracotomia anterior de Chamberlain; nos posteriores, a toracotomia póstero-lateral. No período de seguimento ocorreram seis óbitos, todos sem nenhuma relação com o procedimento cirúrgico. CONCLUSAO: Os tumores mediastinais em crianças são responsáveis por morbimortalidade. No mediastino anterior foram mais comuns os linfomas; no posterior, os tumores de origem neural. A cirurgia é um passo importante no diagnóstico e tratamento dessas lesões.

Remoçäo de corpo estranho da via aérea de criança por broncoscopia através de traqueotomia ou traqueostomia / Bronchoscopic removal of foreign body from airway through tracheotomy or tracheostomy

OBJETIVO: a maioria dos corpos estranhos aspirados para a via aérea é removida através de endoscopia respiratória. Em situações raras, a retirada deste material tem que ser realizada sob controle endoscópico, através de traqueotomia ou traqueostomia. A seguir, relatamos casos de crianças cuja remoçäo de corpos estranhos aspirados para a via aérea foi realizada por abertura traqueal. DESCRIÇÄO: revisäo retrospectiva de prontuários, com relato de três crianças que aspiraram corpos estranhos para a via aérea. A primeira apresentou ruptura da cânula de traqueostomia, com aspiraçäo da porçäo distal da mesma. Foi realizada remoçäo endoscópica através do traqueostoma. A segunda aspirou tampa de caneta, que näo conseguia ser removida endoscopicamente, pois a mesma trancava e näo passava na regiäo subglótica. Foi realizado, entäo, traqueotomia cervical e remoçäo do corpo estranho sob controle endoscópico. A terceira apresentou corpo estranho aspirado para o brônquio principal esquerdo (palito de madeira), que foi removido através de broncoscopia, realizada pelo orifício da traqueostomia. Todas as crianças toleraram o procedimento endoscópico, com remoçäo do corpo estranho. No paciente em que foi realizada traqueotomia, a traquéia foi suturada após retirada do corpo estranho, näo havendo necessidade de realizaçäo de traqueostomia. Nas crianças com traqueostomia prévia, a mesma foi recolocada após a retirada do corpo estranho. COMENTARIOS: uma minoria dos corpos estranhos aspirados para a via aérea de criança näo pode ser removido somente por endoscopia. Quando o corpo estranho é demasiadamente largo que näo passa na regiäo subglótica, ou pontiagudo que possa traumatizar a via aérea, a remoçäo pode ser realizada por endoscopia, através de traqueotomia ou traqueostomia.

Pelvic pain and dispareunia: a benign cystic mesothelioma case report

Benign cystic mesothelioma is a rare tumor originated from mesenchymal cells of the abdominal and pelvic peritoneum. This rare tumor should be considered in the differential diagnosis of young women presenting with abdominal pain and a multicystic abdominal mass