Pilosidade Púbica na Criança e Hiperplasia Congénita Supra-Renal Não Clássica

Antes dos 8 anos de idade no sexo feminino e dos 9 no masculino, o aparecimento de pelos púbicos, pode ser a primeira manifestação de doença das gónadas ou das supra-renais. Para reconhecimento da Hiperplasia congénita supra-renal de início tardio, em situações de Pubarca prematura, realizámos a Prova curta de estimulação da supra-renal com Synacthen, em trinta crianças. Cinco meninas e um rapaz revelaram um défice de 21-hidroxilase, demonstrado pelo valores da 17-OH Progesterona sérica aos 60 minutos;28,8 +_ 15,2ng/ml, sendo num grupo de controle 2,30 ng/ml (p<0,01). A incidência de 20% encontrada, justifica a realização desta prova em todas as Pubarcas prematuras.

Partial Rhombencephalosynapsis.

Clinical history - A 4-year-old boy, born prematurely at 29 weeks (twin pregnancy), with periventricular leukomalacia and epilepsy underwent brain MRI. Neurological examination showed severe developmental retardation with axial hypotonia, spastic tetraparesis and convergent strabismus. Imaging findings - Cranial MRI revealed typical aspects of partial rhombencephalosynapsis with vermian hypoplasia, midline fusion of the cerebellar hemispheres and transversely oriented folia and fissures. There was also mild dilatation and dysmorphism of the ventricular system, the septum pellucidum was absent, the hippocampi were malrotated and had vertical orientation and additional finding of associated periventricular cystic leukomalacia. Discussion - Rhombencephalosynapsis (RS) is a rare congenital defect of the cerebellum classically characterised by vermian agenesis or hypogenesis, fusion of the hemispheres, and closely apposed or fused dentate nuclei. It is now considered to result from an absence of division of the cerebellar hemispheres, following an insult between the 28th and 44th day of gestation (i.e., before the formation of the vermis). Other features have also been described such as fusion of the thalami and cerebral peduncles, malrotated hippocampi, corpus callosum agenesis, hypoplastic chiasm, absence of the septum pellucidum, ventriculomegaly, agenesis of the posterior lobe of the pituitary and cortical malformations. Musculoskeletal, cardiovascular, urinary tract, and respiratory abnormalities have been reported. Typical symptoms consist of swallowing difficulties, delayed motor acquisitions, muscular hypotonia, spastic quadriparesis, cerebellar signs including dysarthria, gait ataxia, abnormal eye movements, and seizures and hydrocephalus. The major MRI signs consist of fused cerebellar hemispheres, with absent or hypoplastic vermis, narrow diamond-shaped fourth ventricle and fused dentate nuclei. In a minority of cases, partial RS has been identified by MRI, demonstrating the presence of the nodulus and the anterior vermis and absence of part of the posterior vermis with only partial fusion of the hemispheres in the inferior part. Other cerebellar malformations involving vermian agenesis or hypoplasia include the Dandy–Walker continuum, Joubert syndrome, tectocerebellar dysraphy or pontocerebellar hypoplasias, and are now easily distinguished from RS by both brain MRI and morphology.

Perinatal Death: Epidemiology and Etiology

Perinatal mortality rate is an important mark to evaluate women and perinatal health care. It is of utmost importance to know causes and the evolution of its two components aiming to improve health care in different fields – sanitary conditions, diagnosis and treatment of infectious disease, immunisations, diagnosing and caring for medical diseases induced by pregnancy or directly related to it, providing skilled birth attendance, preventing birth asphyxia, preventing preterm birth complications and infections. In high-income countries the epidemiology varies mainly with social and economic conditions; in low-income countries, paired with poverty, undernutrition, superstition, lack of medical care, deficient basic sanitary conditions are also found. Also, in rich countries, responsible for 1% of deaths, data are published and improvements evaluated, while in low-income countries responsible for 99% of deaths numbers and causes are unknown, making difficult to implement cost effective interventions, a reason why “stillbirth rates in low-income countries are now where they were in high-income countries 50 to 100 years ago”. Knowledge on causes of death are very important as often what is needed are “simple” measures as improvement of sanitary conditions and immunisation programmes rather than high technologies. About four million babies dye each year in the first 28 days of life and another 3 million dye before birth in the third-trimester, with 98% occurring in low-income and middle income countries and more than 1 million occurring during labour and delivery. Classically stillbirths are the major component of perinatal mortality rate. Causes of death are even more difficult to know. In low-income countries a great proportion of women give birth at home. Worldwide the main causes of stillbirth are asphyxia due to obstructed labour, eclampsia, abruption placenta and umbilical cord complications - making valid the assumption that skilled birth attendance would decrease stillbirth; and infection - chorioamnioitis, syphilis and malaria. In high-income countries placental pathology and infection, congenital anomalies, complications of preterm birth and post term delivery, are the most common. If in low-income countries famine and lack of provisions and health care are common, in high-income countries, advanced maternal age and diabetes, obesity, hypertension, smoking, are frequent findings.

Sífilis congénita : caracterização da infecção e avaliação de técnicas laboratoriais para o seu diagnóstico

RESUMO: Um dos maiores problemas da sífilis é a infecção intra-uterina do feto, que pode resultar em morte fetal com aborto espontâneo. Os objectivos desta tese foram comparar os cinco testes serológicos para o diagnóstico de sífilis congénita e optimizar e aplicar a várias amostras clínicas, colhidas de indivíduos com suspeita de infecção por Treponema pallidum, uma técnica de PCR-Multiplex e uma técnica de PCR em tempo real. Na globalidade dos soros estudados obtiveram-se os seguintes resultados: o RPR reactivo em 87/517; TPHA reactivo em 135/517; e EIA reactivo em 127/517. A pesquisa de anticorpos específicos de tipo IgM foi efectuada em 33 soros sendo estudada pelas técnicas de imunofluorescência indirecta e de westernblot. Quanto aos resultados obtidos pelas duas técnicas, o teste FTA-Abs-IgM demonstrou reactividade em 3/33, enquanto que a técnica de westernblot-M, apresentou reactividade em 18/33. Para a avaliação de uma técnica de PCR-TR, foram estudadas 318 amostras de 236 indivíduos classificados, com base em critérios clínicos e laboratoriais, em diferentes estádios de infecção por Treponema pallidum e em indivíduos sem infecção por aquele microrganismo. Relativamente a estas técnicas foi possível observar amplificação de ADN de Treponema pallidum em 133/318 pela técnica de PCR-TR e 90/318 pela técnica de PCR-Multiplex. Mediante os resultados obtidos e de outros estudos efectuados parece poder concluir-se que o teste EIA é o mais indicado para o rastreio da infecção por Treponema pallidum, devendo um resultado reactivo por esta técnica, ser confirmado com a realização de um teste não treponémico (RPR). Relativamente ao diagnóstico de infecção congénita, o teste westernblot para pesquisa de anticorpos específicos de tipo IgM, parece ser o mais apropriado. A técnica PCR-TR, parece ser a mais indicada, pois apresenta uma maior sensibilidade e especificidade que a PCR-Multiplex.----------------- ABSTRACT:The syphilis major problem is the intrauterine infection of the fetus, which may result in fetal death with spontaneous abortion. The objectives of this thesis were to compare the five serological tests for the diagnosis of congenital syphilis and optimize and apply several clinical samples taken from individuals suspected of infection with Treponema pallidum, a PCR-Multiplex and real-time PCR. In all sera studied were obtained the following results: the RPR reactive in 87/517; reactive TPHA in 135/517, and 127/517 in reactive EIA. The search for specific IgM antibodies was performed on 33 sera that were studied by indirect immunofluorescence and westernblot. The results obtained by both techniques, the test FTA-Abs-IgM showed reactivity in 3/33, while the technique westernblot-M, showed reactivity in 18/33. For an RT-PCR evaluation, we studied 318 samples from 236 individuals classified based on clinical and laboratory criteria at different stages of infection by Treponema pallidum and in individuals without infection by that organism. For these techniques it was possible to observe ADN amplification of Treponema pallidum in 133/318 by RT-PCR and 90/318 by PCR-Multiplex. Based on obtained results and in other studies seems that we can conclude that the EIA test is the most suitable for Treponema pallidum screening infection, and a reactive result by this technique, should be confirmed with the realization of a non-treponemal test (RPR). For the congenital infection diagnosis, testing for antibodies westernblot specific IgM appears to be the most appropriate. The RT-PCR seems to be the most suitable, since it has a higher sensitivity and specificity than the PCR-Multiplex.

Ocular Toxoplasmosis Reactivation During Pregnancy – A Case Report

Introduction: Toxoplasmosis is caused by Toxoplasma gondii and may be acquired from food or water contaminated with cat feces or by vertical transmission. Severe fetal complications can overcome during pregnancy. There are also rare case-reports of congenital toxoplasmosis from previously immunized pregnant women; usually these women being had prior retinal toxoplasmic lesions. Immunosuppresion is one of the risk factors which accounts for some of these cases. Case report: 30 year-old pregnant woman, OI 2002, brazilian, previously healthy, admitted in Ophtalmology Department because of sudden left eye amaurosis in June, 2010. The fundoscopy revealed retinal scars suggesting previous infections; she was treated with corticoids and spiramycin for ocular toxoplasmosis reactivation. Previous serum analysis (2008) showed immunity to T. Gondii, but in July the IgM was negative and high levels of specific IgG were found (1227UI/mL). The serologic findings were later confirmed by a more accurate laboratory technique which found the IgM to be also positive. An amniocentesis was performed and it was negative for fetal transmission. Clinical and ultrasound follow-up throughout the rest of the gestational period was normal; daily spiramycin intake was maintained. An uneventful term delivery was performed. Neither the newborn’s serum analysis nor the histopathological study of the placenta were positive for congenital infection. Conclusion: Toxoplasmosis reactivation in pregnant women without immunosuppression is rare but is more likely to occur if previous post-infectious retinal scars are present. T. gondii infection is endemic in Brazil, so the geographical origin is important. If risk factors are present, fundoscopy should be performed every three months during pregnancy and one should always be aware of any visual symptoms. If you suspect reactivation, start medical prophylaxis for fetal transmission, perform amniocentesis and regular ultrasound follow-up.

Afibrinogenémia Congénita

Os autores apresentam o caso de uma criança com Afibrinogenémia Congénita. A propósito desta entidade revêm a literatura referindo e comentando alguns aspectos e particularidades desta rara doença da coagulação.

Factors associated to infection by Toxoplasma gondii in pregnant women attended in Basic Health Units in the city of Rolândia, Paraná, Brazil

The aim of the present work was to determine the prevalence of IgG and IgM anti-Toxoplasma gondii antibodies and the factors associated to the infection in pregnant women attended in Basic Health Units in Rolândia, Paraná, Brazil. The sample was divided in two groups: group I (320 pregnant women who were analyzed from July 2007 to February 2008) and group II (287 pregnant women who were analyzed from March to October 2008). In group I, it was found 53.1% of pregnant women with IgG reactive and IgM non-reactive, 1.9% with IgG and IgM reactive, 0.3% with IgG non-reactive and IgM reactive and 44.7% with IgG and IgM non-reactive. In group II, it was found 55.1% with IgG reactive and IgM non-reactive and 44.9% with IgG and IgM non-reactive. The variables associated to the presence of IgG antibodies were: residence in rural areas, pregnant women between 35-40 years old, low educational level, low family income, more than one pregnancy, drinking water which does not originate from the public water supply system and the habit of handling soil or sand. Guidance on primary prevention measures and the quarterly serological monitoring of the pregnant women in the risk group are important measures to prevent congenital toxoplasmosis.

Leque de Malformações Congénitas Associadas às Fissuras do Lábio Alvéolo Palatinas

As malformações congénitas associadas às fissuras lábio alvéolo palatinas abrangem um largo leque de patologias, com incidência e penetrância muito variáveis consoante os aurores. Nos 284 doentes seguidos e/ou referenciados a Consulta de Fissurados do Hospital de Dona Estefania (H.D.E.), estão descritas malformações associadas em 78 (27,5%). Destes, há consanguinidade dos pais em três casos e incidência familiar de fissuras e/ou outras malformações congénitasem 13 e 10 doentes respectivamente. Trinta doentes têm síndromes malformativas bem definidas. Nos restantes 48 identificaram-se 127 malformações congénitas associadas (M.C.A.) sendo segundo os critérios de Smith, 81 major e 46 minor. As malformações associadas mais frequentes são as da face ( 25,9 %) e do sistema cardiovascular (16,5 %).As anomalias múltiplas(de vários sistemas) são as mais frequentes (47.9 %), seguindo-se a anomalia isolada (29,1 %) e a múltipla de um sistema (22,9%). Quanto à associação de síndromes com o tipo de fissura, palato primário, secundário ou total, as do secundário são as mais frequentes, nomeadamente a Sequência de Pierre Robin (S.P.R.) - 19 em 36 fendas do palato secundário.

Giant Pericardial Cyst Mimicking Dextrocardia on Chest X-Ray

Pericardial cysts are rare benign congenital malformations, usually small, asymptomatic and detected incidentally on chest X-ray as a mass located in the right costophrenic angle. Giant pericardial cysts are very uncommon and produce symptoms by compressing adjacent structures. In this report, the authors present a case of a symptomatic giant pericardial cyst incorrectly diagnosed as dextrocardia on chest X-ray.

IgG AVIDITY WESTERN BLOT USING Toxoplasma gondii rGRA-7 CLONED FROM NUCLEOTIDES 39-711 FOR SERODIAGNOSIS OF ACUTE TOXOPLASMOSIS

Toxoplasmosis is an important cause of congenital infection. The present study was performed to evaluate the usefulness of recombinant (r) GRA-7 cloned from nucleotides (n) 39-711 in discriminating between acute and chronic toxoplasmosis. First, commercial IgM, IgG and IgG avidity ELISAs were used to determine the serological profile of the sera. Serum samples were from 20 symptomatic patients with acute infection (low IgG avidity, IgM positive), 10 with chronic infection (high IgG avidity, IgM negative) and 10 with indeterminate IgG avidity (IgM positive) which were tested for IgG avidity status with an in-house developed IgG avidity Western blot using the rGRA-7 recombinant antigen. All 20 sera from cases of probable acute infection showed bands which either faded out completely or reduced significantly in intensity after treatment with 8 M urea, whereas the band intensities of the 10 serum samples from chronic cases remained the same. Of the 10 sera with indeterminate IgG avidity status, after treatment with 8 M urea the band intensities with six sera remained the same, two sera had completely faded bands and another two sera had significantly reduced band intensities. Discrimination between acute and chronic toxoplasmosis was successfully performed by the in-house IgG avidity Western blot.

USE OF THE POLYMERASE CHAIN REACTION FOR THE DIAGNOSIS OF ASYMPTOMATIC Leishmania INFECTION IN A VISCERAL LEISHMANIASIS-ENDEMIC AREA

The diagnosis of asymptomatic infection with Leishmania (Leishmania) chagasi has become more important over recent years. Expansion of visceral leishmaniasis might be associated with other routes of transmission such as transfusion, congenital or even vector transmission, and subjects with asymptomatic infection are potential reservoirs. Moreover, the identification of infection may contribute to the management of patients with immunosuppressive conditions (HIV, transplants, use of immunomodulators) and to the assessment of the effectiveness of control measures. In this study, 149 subjects living in a visceral leishmaniasis endemic area were evaluated clinically and submitted to genus-specific polymerase chain reaction (PCR), serological testing, and the Montenegro skin test. Forty-nine (32.9%) of the subjects had a positive PCR result and none of them developed the disease within a follow-up period of three years. No association was observed between the results of PCR, serological and skin tests. A positive PCR result in subjects from the endemic area did not indicate a risk of progression to visceral leishmaniasis and was not associated with a positive result in the serological tests.

Enfisema Lobar Congénito: Uma Apresentação Multilobar

O enfisema lobar congénito é umamalformação rara do tracto respiratório inferior detectada habitualmente nos primeiros meses de vida. Apresenta-se o caso de um lactente, do sexo masculino, de dois meses de idade, internado por suspeita de pneumonia, no qual a segunda radiografia de tórax revelou hipertransparência arredondada no lobo inferior esquerdo, sugestiva de enfisema lobar congénito. A tomografia computorizada torácica mostrou uma imagem quística,multilobar, e a broncoscopia excluiu obstrução brônquica. Foi programada cirurgia para os seis meses de idade, mas aos três meses foi submetido a intervenção cirúrgica urgente por pneumotórax hipertensivo. O exame anatomo-patológico da peça operatória permitiu o diagnóstico de enfisema lobar congénito. Destaca-se a apresentação multilobar e a complicação por pneumotórax.

Acidose Tubular Renal Distal e Surdez Neurossensorial com Mutação no Gene ATP6V1B1

A acidose tubular renal distal é uma doença rara, caracterizada pela incapacidade na acidificação da urina, condicionando acidose metabólica hiperclorémica, hipocaliémia, hipercalciúria e nefrocalcinose, o que poderá causar atraso de crescimento, alteração do metabolismo ósseo e insuficiência renal crónica. A acidose tubular renal distal associada a surdez neurossensorial é uma doença de herança autossómica recessiva, causada por mutações do gene que codifica a subunidade B1 da H+ -ATPase (ATP6V1B1). Os autores relatam os casos de duas irmãs que apresentaram má progressão ponderal, alterações iónicas, do equilíbrio ácido base e surdez neurossensorial. Foi detectada em ambas as crianças a mutação homozigótica no gene ATP6V1B1. Com estes dois casos pretende -se destacar a importância de um diagnóstico precoce nesta patologia rara.

Anomalias Congénitas do Diafragma de Apresentação Tardia

As anomalias congénitas do diafragma (ACD) dão habitualmente sintomatologia no período neonatal; embora 5 a 30% se posssam manter sob uma forma latente e virem a ter uma apresentação tardia. Os A.A. efectuam uma revisão retrospectiva das ACD internadas na UCIP do H.D.E. num período de 41 meses (4 hérnias de Bochdalek, 2 eventrações, 1 hérnia transhiatal e 1 hérnia de Morgagni). Em nenhum dos casos houve sintomatologia neonatal sugestiva, tendo a idade media do diagnóstico sido de 6.6 meses (minimo 1 mes - maximo 18 meses). Em 75% dos casos (6) havia sintomatologia prévia recorrente inespecífica (3 do aparelho respiratório, 2 do digestivo e 1 de ambos), tendo 3 crianças (37.5%) má evolução ponderal. Todos foram sujeitos a cirurgia, com boa evolução em 7 casos (87.5%). Verificou-se 1 óbito (a criança mais jovem), caso em que a uma eventração gigante se associava uma hipoplasia pulmonar grave.

Zinc Therapy of Neurological Wilson's Disease in a Woman with Two Foetus with Agenesis of the Corpus Callosum

8A>C>86A G:EDGI: A patient diagnosed Wilson’s disease (WD) 22 years previously, successfully treated initially with zinc, developed neuropsychiatric disease after years of irregular therapy. Reassuming zinc therapy was successful. After a normal pregnancy, she had two therapeutic abortions for corpus callosum agenesis, and a missed abortion. We review the genetics, physiopathology, clinics and imagiologic response to zinc therapy, the problems of pregnancy in WD, advising to maintain therapy. A hypothetic cause for fetus brain anomaly would be hypocupremia due to zinc therapy, confronting with two other possibilities, one related to Wilson’s disease in itself, other due to a congenital syndrome of agenesis of the corpus callosum, impossible to diagnose by our available diagnostic methods.