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.

Prenatal diagnosis and genetic analysis of two fetuses with paternally derived 17q12 microdeletions / 中华医学遗传学杂志

OBJECTIVE@#To reported on two fetuses diagnosed with 17q12 microdeletion syndrome.@*METHODS@#The two fetuses were respectively found to have renal abnormalities and polyhydramnios upon second and third trimester ultrasonography. Umbilical cord blood of the first fetus and amniotic fluid of the second fetus were subjected to single nucleotide polymorphism array (SNP-array) analysis. After 17q12 microdeletion was found in the first fetus, SNP-array was carried out on peripheral blood samples of the parents to determine its origin. With the medical history of the parents taken into consideration, the father underwent high-throughput sequencing for 565 urinary system-related genes to exclude pathogenic or likely pathogenic variants associated with congenital malformations of the urinary and reproductive systems.@*RESULTS@#In both fetuses, SNP-array has revealed a 1.42 Mb deletion at 17q12, or arr[hg19]17q12 (34 822 465-36 243 365) × 1. In both cases the microdeletion was inherited from the father, in whom no urinary disease-related pathogenic or likely pathogenic variants was identified.@*CONCLUSION@#Paternally derived 17q12 microdeletions probably underlay the genetic etiology of the two fetuses with renal ultrasound abnormalities and polyhydramnios. SNP-array can enable the diagnosis and facilitate genetic counseling and prenatal diagnosis for the families.

Síndrome de Bartter: una tubulopatía infrecuente de inicio antenatal / Bartter syndrome: an infrequent tubulopathy of prenatal onset

INTRODUCCIÓN: Síndrome de Bartter (SB) es una tubulopatía hereditaria, poco frecuente que tiene dos formas de presentación, forma grave de inicio antenatal (Bartter neonatal) y forma de aparición más tardía (Bartter clásico). En su forma antenatal se manifiesta con poliuria fetal, polihidroamnios de inicio precoz y severo, parto prematuro secundario y restricción de crecimiento intrauterino. La etapa postnatal presenta episodios recurrentes de deshidratación y desbalance electrolítico que pue den comprometer la sobrevida del paciente. OBJETIVO: Comunicar un caso de SB neonatal y presentar una revisión de la literatura en esta patología. CASO CLÍNICO: Prematuro 35 semanas, con antecedente de severo polihidroamnios diagnosticado a las 27 semanas de gestación, sin causa aparente. Desde su nacimiento evolucionó con poliuria y alcalosis metabólica hipokalémica haciendo plantear, en primera semana de vida, diagnóstico de Síndrome de Bartter neonatal. El laboratorio confirmó per didas urinarias de electrólitos. Fue manejado con balance hídrico estricto y suplementación de sodio y potasio, logrando estabilizar peso y desbalance electrolítico. Se mantiene en control nefrológico, con suplementación de gluconato de potasio y cloruro de sodio. Se agregó ibuprofeno al cuarto mes como parte del tratamiento. Al séptimo mes de vida, ecografía renal demostró nefrocalcinosis. Al año de vida se evidenció hipoacusia sensorioneural profunda requiriendo implante coclear. CONCLUSIÓN: Presencia de polihidroamnios severo de aparición temprana sin causa identificada debe hacer sospechar SB, que aun siendo infrecuente determina graves alteraciones hidroelectrolíticas y debe ser iniciado su tratamiento precozmente.

INTRODUCTION: Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte im balance that can compromise the survival of the patient. OBJECTIVE: To report a clinical case of neo natal BS and a review of the literature. CLINICAL CASE: Premature newborn of 35 weeks of gestation with history of severe polyhydramnios diagnosed at 27 weeks of gestation, without apparent cause. From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. The patient was treated with strict water balance and sodium and potassium supplementa tion, achieving weight and electrolyte imbalance stabilization. The patient remains in control in the nephrology unit, with potassium gluconate and sodium chloride supplementation. At the fourth month, ibuprofen was added as part of treatment. At the seventh month of life, renal ultrasound showed nephrocalcinosis. At one year of life, profound sensorineural hearing loss was observed re quiring a cochlear implant. CONCLUSION: The presence of severe polyhydramnios of early onset with no identified cause should lead to suspicion of neonatal BS which even when infrequent determines severe hydroelectrolytic alterations and should be treated early.

A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethal form of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had to be supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolonged parenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and COL1A1 gene mutation was not detected.

The Isolated Oligohydramnios

Amniotic fluid is an indicator of normal placental function and is essential for normal fetal lung maturation. Amniotic fluid index (AFI) is the most preferred method of amniotic fluid measurement in pregnancy although single deepest pocket (SDP) is also used. To measure AFI, the examiner divides the uterus into four equal quadrants. AFI is the sum of deepest pocket from each quadrant. The normal AFI ranges between 5~24 cm while any value above 24 cm is considered as hydramnios and that below 5 cm is indicated as oligohydramnios. An adequate volume of amniotic fluid is critical to allow normal fetal movement and growth, while also cushioning the fetus and umbilical cord. Regardless of the etiology, oligohydramnios may inhibit these processes and may lead to fetal deformation, umbilical cord compression, and death in some instances. Oligohydramnios can be due to underproduction, loss, or sometimes, isolated. Isolated oligohydramnios has been found to be responsive maternal hydration and is neither a malformation of the urinary system in the fetus, nor a rupture of amnion and due to genetic cause. The author would like to introduce a way to increase amniotic fluid volume in isolated oligohydramnios which is expect to improve the perinatal outcomes.

Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy

OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS: We have reviewed 11 paired cases of neonates diagnosed with congenital myotonic dystrophy and their mothers between July 2004 and May 2014, with clinical features including maternal history of infertility, prenatal ultrasonographic findings, and neonatal outcomes. Cytosine-thymine-guanine (CTG) repeat expansion in the myotonic dystrophy protein kinase gene of both neonates and their mothers was also examined. RESULTS: None of mother was aware of their myotonic dystrophy traits before pregnancy. History of infertility followed by assisted reproductive technology accounted for 57.1% (4/7). Distinctive prenatal ultrasonographic finding was severe idiopathic polyhydramnios (66.7%, 4/6) with median amniotic fluid index of 43 (range, 37 to 66). In 37.5% (3/8) cases, decreased fetal movement was evident during prenatal ultrasound examination. For neonatal outcomes, more than half (6/11) were complicated with preterm birth and the proportion of 1-minute Apgar score <4 and 5-minute Apgar score <7 was 44.4% (4/9) and 66.7% (6/9), respectively. Most of neonates were admitted to the neonatal intensive care unit (9/10) because of hypotonia with respiratory problems and there was one infant death. Median number of cytosine-thymine-guanine repeats in mothers and neonates was 400 (range, 166 to 1,000) and 1,300 (range, 700 to 2,000), respectively. CONCLUSION: Our data suggest that severe idiopathic polyhydramnios with decreased fetal movement in pregnant women, especially with a history of infertility, requires differential diagnosis of congenital myotonic dystrophy.

Intra-amniotic thyroxine to treat fetal goiter

A 35-year-old pregnant woman visited our department and had been treated with 100 microg of daily oral levothyroxine for hypothyroidism. An ultrasonography screening was performed at 25 weeks gestation and revealed a fetal goiter and an increased amniotic fluid volume. Fetal hypothyroidism was confirmed by cordocentesis and amniotic hormone levels at 26 weeks gestation. We treated the mother with 200 microg of daily oral levothyroxine to optimize the transplacental transfer. A total of four intra-amniotic injections of levothyroxine were administered, resulting in progressive reduction in the fetal thyroid volume of goiter as measured by 3D ultrasonography and increased amniotic fluid volume. Following birth, neonatal serum thyroid stimulating hormone level was within the normal range, but free T4 was reduced. Based on this case, we suggest that monitoring amniotic fluid thyroid hormone concentration and intra-amniotic levothyroxine injection can be used to reduce the thyroid volume of goiters and to prevent polyhydramnios.

Acardiac Twin-Twin Reversed Arterial Perfusion Sequence

In general, twin pregnancy represents a high-risk pregnancy. The monozygous twin of all twin pregnancy is a real challenge for the obstetrician due to the severe complications that may arise during its development. An extremely uncommon, severe complication of monozygous twin pregnancy, which we recently experienced in Soonchunhyang University Cheonan Hospital, was a monochorionic diamniotic twin pregnancy with acardiac twin-twin reversed arterial perfusion sequence. An acardiac twin presented no heart, underdeveloped inferior part of the body, being transfused by the other fetus (pumping twin) by umbilical vessels. We report a 33-year-old pregnant woman, with a history of in vitro fertilization-embryo transfer in the second pregnancy, who presented with generalized edema, abdominal discomfort, and high blood pressure at 33 weeks' gestation. By ultrasonography, one of the babies is normally developed but in the other baby, head, upper extremities, and cardiac activity cannot be detected. The pumping twin was cardiomegaly, polyhydramnios, absent diastolic wave on the umbilical artery, and small for gestational age. We decided to terminate the pregnancy by primary cesarean section after administration of corticosteroids. The comprehension of this case is compulsory in order to provide maximum survival opportunity to the viable baby.

Síndrome de transfusión fetofetal / Twin-twin transfusion síndrome

Introducción: el síndrome de transfusión feto fetal es una complicación mayor presente en el 10 a 15% de los embarazos monocorialesbiamnióticos, se conoce que parte de su fisiopatología corresponde a la presencia de anastomosis placentarias entre los dos fetos que conllevan a presentar una clínica aguda y de urgente intervención en presencia de anemia, restricción de crecimiento intrauterino, oliguria y oligohidramnios en el gemelo donante, mientras que el receptor se torna pletórico, poliúrico, presentando cardiomegalia, falla cardiaca congestiva y polihidramnios. Objetivo: presentar una revisión de tema acerca del síndrome de transfusión feto fetal, características clínicas, complicaciones y su tratamiento. Metodología: se utilizaron bases de datos como Pubmed y ScienceDirect para la búsqueda de la información, encontrándose 186 artículos de los cuales 41 fueron seleccionados según los criterios de inclusión. Resultados: se encontraron 41 artículos con información actualizada, se revisó su fisiopatología, clasificación y tratamiento, destacando el papel del sistema renina angiotensina aldosterona, la presencia de anastomosis placentarias, la implicación de los niveles de vasopresina y su actual tratamiento. Conclusiones: el síndrome de trasfusión feto fetal es una de las más severas complicaciones de las gestaciones monocoriales-biamnióticas con una alta tasa de morbimortalidad fetal y perinatal. Su patología es causada por desbalance de flujos entre las anastomosis placentarias, alteraciones en el eje renina angiotensina aldosterona, cambios en los niveles de vasopresina, entre otros factores. El tratamiento actual es la terapia de ablación láser de las anastomosis placentarias, con una sobrevida del 70% y una disminución de secuelas neurológicas. Se reitera la importancia de conocer esta patología para realizar un diagnóstico asertivo y un tratamiento inmediato, invitándose a investigarla.

Introduction: twin twin transfusion syndrome is one further complication in the 10-15% of all monochorionic-biamniotic pregnancies, it is known that part of its pathophysiology corresponds to the presence of placental anastomosis between two fetuses that lead to present an acute clinic and urgent intervention for anemia, restriction of intrauterine growth, oliguria and olgohydramnios in the donor twin, while the receiver becomes plethoric, polyuric, cardiomegaly, congestive heart failure and polyhydramnios appear. Objective: present a review about twin-twin transfusion syndrome, clinical features, complications and its treatment. Methodology: databases such as Pubmed and ScienceDirect were used to search for the information. Results: we found 41 articles with updated information, reviewing its pathophysiology, classification and treatment, highlighting the role of the renin angiotensin aldosterone system, the presence of placental anastomosis, the involvement of vasopressin levels and its present treatment. Conclusions: twin-twin transfusion syndrome is one of the most severe complications of the monochorionic-biamniotic pregnancies with a high rate of fetal and perinatal morbidity and mortality. It’s pathology is caused due to imbalance of flows between placental anastomoses, alterations in the axis renin angiotensin aldosterone, changes in the levels of vasopressin, among other factors. The current treatment is the therapy of laser ablation of placental anastomoses with a survival of 70% and a decrease of neurologic sequelae. We reiterate the importance of understanding this disease to make an assertive diagnosis and immediate treatment, inviting you to investigate it.

Obstetrical Management of Gestational Diabetes Mellitus / 임상당뇨병

Gestational diabetes mellitus (GDM) is traditionally defined as newly onset or detected carbohydrate intolerance during pregnancy. Unprotected exposure to high glucose levels during pregnancy is related to adverse pregnancy outcomes including fetal demise and intrauterine growth restriction associated with placental insufficiency. The most common complications related to GDM comprise macrosomia, shoulder dystocia, brachial plexus palsy, intrauterine fetal death and preeclampsia, polyhydramnios, preterm delivery, and increased cesarean section rate. Moreover, GDM may increase the chance of GDM recurrence in a subsequent pregnancy, impaired glucose tolerance or type 2 DM, and obesity or impaired glucose tolerance in the offspring. Therefore, proper obstetrical management and glucose control are always challenging and important. The aim of this article is to discern: 1) obstetric complications related to GDM diagnosed after pregnancy, 2) various methods of fetal surveillance, 3) proper timing for delivery and mode of delivery, 4) postpartum management for GDM patients and neonates, and 5) preconceptional counseling prior to a possible subsequent pregnancy.

Prenatal diagnosis of congenital mesoblastic nephroma

Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6x6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition.

Reporte de segundo caso en Cuba de clorhidrorrea congénita / Report of a second congenital chloride diarrhea case in Cuba

La clorhidrorrea congénita es un raro desorden autosómico recesivo, causado por un defecto en el intercambio de cloruro/bicarbonato en el íleon y colon. En este trabajo se reporta el caso de un niño de 1 año de edad con características patognomónicas de esta condición, consistentes en antecedentes prenatales de polihidramnios, diarreas acuosas desde el nacimiento, poca ganancia de peso, alcalosis metabólica y deshidratación. El diagnóstico fue confirmado por el elevado contenido de cloruro en heces, y es el segundo caso reportado en la literatura cubana.

Congenital chloride diarrhea is a rare autosomal recessive disorder caused by a defective exchange of chloride and bicarbonate in the ileum and the colon. This article reported the case of one-year old child with pathognomonic characteristics of this disease including prenatal history of polyhydramnios, watery diarrheas since birth, low weight gain, metabolic alkalosis and dehydration. The diagnosis was confirmed on the basis of the high contents of chloride in stools. He is the second case of this disease reported in the Cuban literature.

Pregnancy outcomes in pregnant women with abnormal glucose challenge test

Some studies have shown that pregnant women with abnormal glucose challenge test [GCT] and normal oral glucose challenge test [OGTT] have the chance of adverse pregnancy outcomes including macrosomia, pre-eclampsia and increase of cesarean section rate. This study was performed to determine the pregnancy outcomes in women with abnormal glucose challenge test. This case -control study was done on 60 pregnant women with abnormal GCT [more than 130 mg/dl] and normal OGTT and 67 pregnant women with normal GCT [less than 130 mg/dl] in Kermanshah, Iran during September 2010-March 2011. Delivery with Vacum, polyhydroamnus, pre-eclampsia pyelonephritis and low birth weight significantly was higher in cases than controls [P<0.05]. But there was a non significant difference in stillbirth, neonatal abnormality, neonatal respiratory distress and shoulder dystocia between case and control groups. Polyhydramnious, preeclampsia and pyelonephrities and low birth weight are more frequent in pregnant women with abnormal GCT and normal OGTT in compare to pregnant women with normal GCT

A altura uterina é capaz de diagnosticar os desvios do volume de líquido amniótico? / Is uterine height able to diagnose amniotic fluid volume deviations?

OBJETIVO: Avaliar o desempenho de uma curva de altura uterina (AU) quanto à capacidade de rastrear desvios do volume de líquido amniótico, utilizando uma curva brasileira de índice de líquido amniótico (ILA) como padrão-ouro. MÉTODOS: O presente estudo representa um corte transversal no qual foram incluídas 753 gestantes em acompanhamento pré-natal na rede pública de João Pessoa (PB) no período de março a outubro de 2006 e que tiveram um exame de ultrassonografia (US) de rotina agendado para depois da 26ª semana de idade gestacional. Foram excluídos os casos com diagnóstico de gestação gemelar, óbito fetal intrauterino e malformações fetais maiores. Além de informações sociodemográficas, foram coletados também os valores da AU medida de forma padronizada, os valores do peso fetal estimado, do ILA e a idade gestacional pelo exame de US. A capacidade da curva de AU em predizer os desvios do volume de líquido amniótico foi avaliada tendo uma curva brasileira de ILA em função da idade gestacional como padrão-ouro. Para isso, foram estimados a sensibilidade, especificidade e valores preditivos positivo e negativo para diferentes pontos de corte. RESULTADOS: A medida da AU identificou 10,5% das mulheres como AU baixa e possivelmente associada ao oligoâmnio, e 25,2% como AU alta e possivelmente associada ao polidrâmnio. Utilizando uma curva brasileira de referência para ILA, a AU foi capaz de predizer pobremente a ocorrência de oligoâmnio (sensibilidade variando entre 37 a 28%) e de forma razoável a ocorrência de polidrâmnio (sensibilidade variando entre 88 a 69%). CONCLUSÃO: A medida da altura uterina mostrou um desempenho ruim para predizer oligoâmnio e um desempenho razoável para predizer polidrâmnio. Sua utilização para essa finalidade só se justifica, portanto, em situações nas quais o exame ultrassonográfico não esteja fácil e rotineiramente disponível, a fim de ajudar na priorização dos casos que deveriam ter esse exame realizado.

PURPOSE: To evaluate the performance of a Brazilian reference curve of fundal height (FH) regarding its capacity of screening the deviations of volume of amniotic fluid using a Brazilian reference curve of amniotic fluid index (AFI) as gold standard. METHODS: This was a cross-sectional study evaluating 753 pregnant women receiving prenatal care at the public health services of João Pessoa (PB), from March to October 2006, who had a routine ultrasound exam scheduled for after 26 weeks of gestational age. Cases with diagnoses of twin pregnancy, intrauterine fetal death and major fetal malformations were excluded. Besides socio-demographic information, data regarding fundal height measured in a standard way, estimated fetal weight, AFI and gestational age at the time of the ultrasound exam were also collected. The capacity of the FH curve to predict deviations of the amniotic fluid volume was assessed using the Brazilian curve of AFI according to gestational age as the gold standard. For this purpose, sensitivity, specificity, positive and negative predictive values were estimated for different cut-off points. RESULTS: The measurement of FH identified 10.5% of women as having low FH possibly associated with oligohydramnios and 25.2% as having high FH possibly associated with polyhydramnios. Using a Brazilian reference curve of AFI, the FH was able to poorly predict the occurrence of oligohydramnios (sensitivity ranging from 37 to 28%) and to reasonably predict the occurrence of polyhydramnios (sensitivity ranging from 88 to 69%). CONCLUSIONS: The measurement of fundal height showed a poor performance for predicting oligohydramnios and a reasonable performance for predicting polyhydramnios. Its use for this purpose is then only supported in settings where the ultrasound exam is not easily or routinely available in order to help define priorities for cases that should have this exam performed.

Glycogen Storage Disease Presenting as Fetal Hydrops: A Case Report / 대한주산의학회잡지

Glycogen storage disease (GSD) is a group of heterogeneous disorders of glycogen metabolism that results in abnormal storage of glycogen in multiple organs. Clinical manifestations of GSD vary according to the basic enzyme defect. Only types II, IV, V or VII of GSD have been known to manifest in the infantile period. Of the 11 types of GSD, the congenital subtype of GSD type IV is characterized by severe neonatal hypotonia, multiple contractures, polyhydramnios, and fetal hydrops. We report a case of a patient born at a gestational age of 34 weeks and 3 days with fetal hydrops, joint contractures, and akinesia. Muscle biopsy results were highly indicative of GSD. This is the first case of suspected GSD in Korea presenting as fetal hydrops. The possibility of other disorders associated with glycogen metabolism should be considered in fatal fetal hydrops patients with severe hypotonia and arthrogryposis, and aggressive investigations such as muscle biopsy should be performed for early diagnosis.

Congenital Chloride Diarrhea in Dizygotic Twins / 대한소아소화기영양학회지

Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.

Chinese herbal medicine in treatment of polyhydramnios:a meta-analysis and systematic review / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To compare the efficacy of Chinese herbal medicine (therapy A) or Chinese herbal medicine plus indomethacin (therapy B) with that of indomethacin alone (therapy C) in treating polyhydramnios.</p><p><b>METHODS</b>Literatures published up to April 2012 were retrieved from PubMed, Embase and Cochrane library, Chinese National Knowledge Infrastructure (CNKI), Chinese Scientific and Technological Periodical Database (VIP), Wangfang, and Traditional Chinese Medicine online. Two researchers collected data independently. The assessment of methodological quality was based on Cochrane handbook and the materials were analyzed with software RevMan 5.1.2. The outcome measure index was relative risk or difference of mean value (95% confidence interval). The following outcomes were evaluated (1) general clinical improvement rate; (2) maximum vertical pocket depth; (3) amniotic fluid index (AFI) value; (4) rate of fetal ductus arteriosus constriction; (5) incidence of adverse events.</p><p><b>RESULTS</b>Based on the search strategy, 5 trails involving 1017 patients were finally included. Compared with therapy C, therapy A decreased the rate of fetal ductus arteriosus constriction (P<0.01). Therapy B was more effective than therapy C in general clinical improvement and decrease of AFI for polyhydramnios (P<0.01). No serious adverse events were reported in therapy A and therapy B.</p><p><b>CONCLUSIONS</b>Compared with therapy C, therapy A and therapy B may appear to be more effective for polyhydramnios. However, the exact effect needs to be confirmed with well-designed large-scale clinical trials.</p>

Neonatal Characteristic of Congenital Cystic Adenomatoid Malformation of the Lung Requiring Early Operation and Preoperative Intervention

PURPOSE: To identify neonatal characteristics associated with congenital cystic adenomatoid malformation (CCAM) who required early operations and to introduce preoperative interventions to delay definitive operations until stabilized. METHODS: A retrospective review of dataset was performed from January 2000 to December 2011 for neonates admitted to NICU at Asan Medical Center with prenatally diagnosed CCAM. Variable prenatal and postnatal factors were compared for those who required early operations to those asymptomatic neonates who required elective operations at later age. RESULTS: A total of 60 patients were enrolled and patients were divided into 2 groups according to time of operation. Median time of surgery for group 1 (n=12, 20%) and group 2 (n=48, 80%) was 5.5 days and 504 days, respectively. Maternal characteristics including age, parity, preterm labor, oligohydramnios were similar in between two groups. Factors associated with early operation included prenatal history of polyhydramnios (OR 23, P=0.001), who had undergone fetal interventions (OR 47, P=0.001), low 1 and 5 minute Apgar scores and increasing fetal fluid-filled cystic sizes (OR 26, P=0.013). Of those 3 neonates who required preoperative interventions to decrease air-filled cysts to relieve initial respiratory symptoms were successful and all underwent for definitive operations during NICU hospitalizations. All survived. CONCLUSION: Most neonates with CCAM undergo elective operations during infancy. However, about 20% neonates with polyhydramnios, fetal intervention, increasing fetal cystic mass and born with low Apgar scores required early operations for whom prenatal and postnatal interventions prior to definitive surgery can improve survival rate.

Fryns syndrome in monozygotic twins: a case report with review of literature / Síndrome Fryns en gemelos monocigóticos – reporte de caso con revisión de la literatura

Fryns syndrome is a rare multiple congenital anomaly syndrome. The syndrome is characterized by congenital diaphragmatic hernia, unusual facial features and distal limb abnormalities. Here we report a case of monozygotic twins with Fryns syndrome of consanguine parents with normal first child. The mother with 20 weeks of gestation having hyperemesis was referred from a primary health centre to the department of obstetrics and gynaecology at our hospital with polyhydramnios detected in ultrasonogram. Detailed ultrasound was done and after finding that both babies having multiple congenital anomalies, emergency caeserian section was done. The malformations in the twins suggestive of Fryns syndrome.

El síndrome de Fryns, es un raro síndrome de múltiples anomalías congénitas. El síndrome se caracteriza por la hernia diafragmática congénita, rasgos faciales inusuales y alteraciones distales del miembro. Se presenta un caso de gemelos monocigóticos con síndrome de Fryns de padres consanguíneos con un primer hijo normal. La madre con 20 semanas de gestación e hiperemesis fue remitida desde un centro de salud primario al departamento de obstetricia y ginecología de nuestro hospital con polihidramnios detectado en ecografía. En una ecografía detallada se evidenció que los dos bebés tenían múltiples anomalías congénitas, por lo que se realizó una cesárea de emergencia. Las malformaciones en los gemelos sugieren un síndrome de Fryns.