Severe polyhydramnios as neonatal presentation of Bartter's syndrome type IV / Polihidrâmnios grave como manifestação neonatal da síndrome de Bartter tipo IV

Abstract Introduction: Bartter's syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter's syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter's syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter's syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.

Resumo Introdução: a síndrome de Bartter inclui um grupo heterogéneo de tubulopatias hereditárias perdedoras de sal. Existem duas formas de apresentação clínica: clássica e neonatal, a forma mais grave. Os tipo I e II representam a maioria dos casos neonatais. Os tipos III e V são geralmente menos graves. Caracteristicamente, a síndrome de Bartter tipo IV é uma nefropatia perdedora de sal com sintomas neonatais ligeiros a graves, com um aspeto especí- fico - surdez neurossensorial. A síndrome de Bartter tipo IV é o tipo menos comum das formas recessivas da doença. Descrição: relatamos o primeiro caso de uma criança portuguesa, com surdez neurossensorial, poliúria, polidipsia e restrição de crescimento, nascida prematuramente devido a polihidrâmnios grave, homozigótica para a mutação G47R do gene BSND, responsável pela síndrome de Bartter tipo IV. Discussão: são raros os casos publicados sobre síndrome de Bartter tipo IV atribuída a esta mutação, e a maioria referem-se a diagnósticos mais tardios, com manifestações clínicas ligeiras. A fraca correlação fenótipo-genótipo combinada com a raridade desta síndrome tornam o diagnóstico pré-natal desafiante. Perante um caso de polihidrâmnios grave em um feto sem malformações aparentes, cariótipo normal e após exclusão de patologia materna, as doenças autossómicas recessivas, incluindo as tubulopatias, devem ser sempre consideradas.

Nonprimary Cytomegalovirus Fetal Infection.

Cytomegalovirus (CMV) is the most common congenital viral infection, causing hearing, visual and psychomotor impairment. Preexisting maternal CMV immunity substantially reduces, but not eliminates, the risk of fetal infection and affectation. This article is about a case of nonprimary maternal CMV infection during pregnancy, with vertical transmission, resulting in severe fetal affectation. Preconceptional analysis indicated maternal CMV past infection. Pregnancy progressed uneventfully until the 20th week ultrasound (US), which revealed cerebral abnormalities: thin and hyperechogenic cerebral cortex with prominent lateral ventricles, bilateral periventricular hyperechogenicities, cerebellar vermis hypoplasia and absent corpus callosum. The MRI suggested these findings were compatible with congenital infection rather than primary brain malformation.The fetal karyotype was normal. The title of CMV's IgG antibodies almost tripled. Since the first semester, analysis of the polymerase chain reaction (PCR) for CMV DNA in the amniotic fluid was negative. The pregnancy was terminated at 23 weeks. Neuropathological findings at autopsy showed severe brain lesions associated with CMV infection.

Nonprimary Cytomegalovirus Fetal Infection / Infeção fetal não primária por citomegalovírus

Abstract Cytomegalovirus (CMV) is the most common congenital viral infection, causing hearing, visual and psychomotor impairment. Preexisting maternal CMV immunity substantially reduces, but not eliminates, the risk of fetal infection and affectation. This article is about a case of nonprimary maternal CMV infection during pregnancy, with vertical transmission, resulting in severe fetal affectation. Preconceptional analysis indicated maternal CMV past infection. Pregnancy progressed uneventfully until the 20th week ultrasound (US), which revealed cerebral abnormalities: thin and hyperechogenic cerebral cortex with prominent lateral ventricles, bilateral periventricular hyperechogenicities, cerebellar vermis hypoplasia and absent corpus callosum. The MRI suggested these findings were compatible with congenital infection rather than primary brain malformation. The fetal karyotype was normal. The title of CMV's IgG antibodies almost tripled. Since the first semester,analysisof the polymerasechainreaction(PCR)forCMVDNAintheamniotic fluid was negative. The pregnancy was terminatedat 23weeks. Neuropathologicalfindings at autopsy showed severe brain lesions associated with CMV infection.

Resumo O citomegalovírus (CMV) é a infeção viral congénita que mais comumente causa deficiência auditiva, visual e psicomotora. A preexistência de imunidade materna reduz substancialmente, mas não elimina, o risco de infeção e afetação fetal. Trata-se de um caso de infeção materna não primária por CMV durante a gravidez, com transmissão vertical, resultando em afetação fetal severa. As análises preconcepção indicavam infecção passada por CMV. A gravidez decorreu sem intercorrências até a ecografia efetuada na 20ª semana, que revelou alterações cerebrais: córtex cerebral fino e hiperecogénico com ventrículos laterais proeminentes, hiperecogenecidades periventriculares bilaterais, hipoplasia do vérmis cerebeloso e ausência de corpo caloso. A ressonância magnética sugeriu que estes achados eram mais favoráveis a uma infeção congénita do que com uma malformação cerebral primária. O cariótipo fetal era normal. O título de anticorpos IgG para CMV havia triplicado desde a dosagem do primeiro trimestre. O PCR para o DNA do CMV no líquido amniótico foi negativo. A gravidez foi interrompida na 23ª semana. Os achados neuropatológicos na autópsia mostraram lesões cerebrais severas associadas a infeção por CMV.

[Right subclavian artery evaluation during first trimester ultrasound scan]. / Avaliação da artéria subclávia direita na ecografia do primeiro trimestre.

PURPOSE: To determine the feasibility of evaluation of the right subclavian artery during the first trimester ultrasound scan, as well as to describe the technique for its evaluation and, in case of aberrant right subclavian artery (ARSA) identification, to determine its association with chromosomal abnormalities and/or cardiac malformations and its management. METHODS: A prospective study for evaluation of the right subclavian artery during the first trimester ultrasound scan (crown-to-rump length between 45 and 84 mm), in all consecutive single pregnancies, by a single examiner, using a Voluson E8 system (GE Healthcare, Zipf, Austria) with a 2 to 8 MHz RAB 4-8-D transabdominal probe, within a short period of time (less than 2 minutes), in a general low risk population. Color and/or power Doppler flow mapping was used to classify the right subclavian artery as normal or aberrant. Regression analysis with the IBM SPSS Statistics software for Windows, version 20.0 was used to determine the significance of the association between failure to examine/classify the right subclavian artery and both fetal crown-rump length and maternal body mass index. RESULTS: Median maternal age was 30 years (range: 17-43 years) and median gestational age at the time of evaluation of the right subclavian artery was 12 weeks (range: 11-13 weeks). The evaluation of the right subclavian artery was successful in 138/176 (78.4%) of the cases. ARSA was diagnosed in a single case (0.7%). This fetus with ARSA also presented a hyperechogenic focus on the left cardiac ventricle. Fetal echocardiography at 16 weeks of gestation was performed and confirmed ARSA and the hyperechogenic focus. Amniocentesis revealed a normal 46, XX karyotype. CONCLUSION: ARSA can be identified during a routine first trimester ultrasound scan. Our single ARSA case had a normal karyotype and no associated cardiac malformations.

Avaliação da artéria subclávia direita na ecografia do primeiro trimestre / Right subclavian artery evaluation during first trimester ultrasound scan

OBJETIVO: Avaliar a artéria subclávia direita durante a ecografia do primeiro trimestre, descrever a técnica para a sua avaliação e, em caso de identificação de artéria subclávia direita aberrante (ARSA), determinar sua associação com alterações cromossómicas e/ou malformações cardíacas e sua orientação. MÉTODOS: Estudo prospectivo que consistiu na avaliação da artéria subclávia direita no primeiro trimestre (comprimento crânio caudal entre 45 e 84 milímetros), em todas as gestações únicas, consecutivas, por um único examinador, ecógrafo Voluson E8 (GE Healthcare, Zipf, Áustria) com sonda transabdominal RAB 4-8-D, 2 a 8 MHz, por um período não superior a 2 minutos, numa população geral de baixo risco. Com a ajuda do power/color Doppler, a artéria subclávia direita foi classificada como normal ou aberrante. Foi utilizada análise de regressão estatística (IBM SPSS Statistics for Windows, versão 20.0) para estudar o grau de associação entre a falha na avaliação/classificação da artéria subclávia direita e o comprimento crânio-caudal fetal e o índice de massa corporal materno. RESULTADOS: A mediana da idade materna foi de 30 anos (variando entre 17 e 43 anos) e a mediana do tempo de gestação no momento da avaliação da artéria subclávia direita foi de 12 semanas de gestação (variando entre 11 e 13 semanas de gestação). A avaliação da artéria subclávia direita foi possível em 138/176 (78,4%) dos casos. ARSA foi diagnosticada em um único caso (0,7%). Esse feto com ARSA também apresentou um foco hiperecogênico no ventrículo cardíaco esquerdo. Foi realizada ecocardiografia fetal às 16 semanas de gestação, que confirmou o diagnóstico de ARSA e foco hiperecogênico. A amniocentese revelou cariótipo normal, 46, XX. CONCLUSÃO: É possível fazer o diagnóstico de ARSA na ecografia do primeiro trimestre. O nosso único caso de ARSA apresentou um cariótipo normal sem malformações cardíacas associadas. .

PURPOSE: To determine the feasibility of evaluation of the right subclavian artery during the first trimester ultrasound scan, as well as to describe the technique for its evaluation and, in case of aberrant right subclavian artery (ARSA) identification, to determine its association with chromosomal abnormalities and/or cardiac malformations and its management. METHODS: A prospective study for evaluation of the right subclavian artery during the first trimester ultrasound scan (crown-to-rump length between 45 and 84 mm), in all consecutive single pregnancies, by a single examiner, using a Voluson E8 system (GE Healthcare, Zipf, Austria) with a 2 to 8 MHz RAB 4-8-D transabdominal probe, within a short period of time (less than 2 minutes), in a general low risk population. Color and/or power Doppler flow mapping was used to classify the right subclavian artery as normal or aberrant. Regression analysis with the IBM SPSS Statistics software for Windows, version 20.0 was used to determine the significance of the association between failure to examine/classify the right subclavian artery and both fetal crown-rump length and maternal body mass index. RESULTS : Median maternal age was 30 years (range: 17-43 years) and median gestational age at the time of evaluation of the right subclavian artery was 12 weeks (range: 11-13 weeks). The evaluation of the right subclavian artery was successful in 138/176 (78.4%) of the cases. ARSA was diagnosed in a single case (0.7%). This fetus with ARSA also presented a hyperechogenic focus on the left cardiac ventricle. Fetal echocardiography at 16 weeks of gestation was performed and confirmed ARSA and the hyperechogenic focus. Amniocentesis revealed a normal 46, XX karyotype. CONCLUSION: ARSA can be identified during a routine first trimester ultrasound scan. Our single ARSA case had a normal karyotype and no associated cardiac malformations. .

Fetal vulvar cysts with spontaneous resolution.

Congenital anomalies of the external genitalia occur in 2-3 per 100 infants. These anomalies might bring variable degrees of morbidity to the infant and often constitute diagnostic challenges for health professionals. We present a case report of a fetus with bilateral vulvar cysts diagnosed during the third trimester ultrasound. The cysts spontaneously regressed before birth and the newborn showed no genital anomalies at birth.