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INTRODUCTION: Congenital chloride diarrhea (CLD) is a rare autosomal recessive disorder characterized by watery diarrhea with a high level of fecal Cl-, metabolic alkalosis, and electrolyte alterations. Several intestinal and extraintestinal complications and even death can occur. An optimal knowledge of the clinical features and best therapeutic strategies is mandatory for an effective management. METHODS: Articles published between 1 January 1965 and 31 December 2019, reported in PUBMED and EMBASE, were evaluated for a systematic review analyzing four categories: anamnestic features, clinical features, management, and follow-up strategies. RESULTS: Fifty-seven papers reporting information on 193 CLD patients were included. The most common anamnestic features were positive family anamnesis for chronic diarrhea (44.4%), consanguinity (75%), polyhydramnios (98.3%), preterm delivery (78.6%), and failure to pass meconium (60.7%). Mean age at diarrhea onset was 6.63 days. Median diagnostic delay was 60 days. Prenatal diagnosis, based on molecular analysis, was described in 40/172 (23.3%). All patients received NaCl/KCl-substitutive therapy. An improvement of diarrhea during adulthood was reported in 91.3% of cases. Failure to thrive (21.6%) and chronic kidney disease (17.7%) were the most common complications. CONCLUSIONS: This analysis of a large population suggests the necessity of better strategies for the management of CLD. A close follow-up and a multidisciplinary approach is mandatory to manage this condition characterized by heterogeneous and multisystemic complications. IMPACT: In this systematic review, we describe data regarding anamnestic features, clinical features, management, and follow-up of CLD patients obtained from the largest population of patients ever described to date. The results of our investigation could provide useful insights for the diagnostic approach and the management of this condition.
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Diarreia/congênito , Erros Inatos do Metabolismo/patologia , Erros Inatos do Metabolismo/terapia , Diarreia/genética , Diarreia/patologia , Diarreia/terapia , Fezes , Humanos , Recém-Nascido , Mecônio , Erros Inatos do Metabolismo/genética , Mutação de Sentido IncorretoRESUMO
BACKGROUND: Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. CASE PRESENTATION: A G1 at 21w + 3d came to our institution for the second-trimester ultrasound and a skeletal dysplasia with prevalent involvement of limb's rhizomelic tracts was suspected. Amniocentesis followed by CGH-array was performed, with normal results. An examination by NGS of some genes associated with skeletal dysplasias showed a novel pathogenic variant of the ACAN gene: c.2677delG. CONCLUSION: Sequence variations of ACAN were never described as a possible cause of fetal skeletal anomalies to date. In this case report, we describe the first prenatal diagnosis of skeletal dysplasia associated with a pathogenic variant of ACAN.
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Agrecanas , Doenças do Desenvolvimento Ósseo/genética , Mutação/genética , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Adulto , Amniocentese , Feminino , Retardo do Crescimento Fetal/genética , Feto , Humanos , Gravidez , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Women's experience of pain during labor varies greatly, and pain control is a major concern for obstetricians. Several methods have been studied for pain management for women in labor, including drug and non-drug interventions. OBJECTIVE: To test the hypothesis that in nulliparous women with singleton pregnancies at term, listening to music would reduce the pain level during labor. METHODS: Parallel group non-blinded randomized clinical trial conducted at a single center in Italy. Nulliparous women in spontaneous labor with singleton pregnancies and vertex presentation admitted in labor and delivery room between 37 0/7 and 42 0/7 weeks of gestation for active phase of labor were eligible, and were randomized in a 1:1 ratio to receive music during labor or no music during labor. Music in labor was defined listening to music from the randomization until the delivery of the baby. The primary endpoint was the pain level during the active phase of labor, recorded using the visual analogue scale (VAS) for pain, ranging from 0 (no pain) to 10 (unbearable pain). The effect of music use during labor on each outcome was quantified as the mean difference (MD) with 95% confidence interval (CI). RESULTS: During the study period, 30 women agree to take part in the study, underwent randomization, and were enrolled and followed up. 15 women were randomized in the music group, and 15 in the control group. No patients were lost to follow up for the primary outcome. Pain level during the active phase of labor was scored 8.8 ± 0.9 in the music group, and 9.8 ± 0.3 in the control group (MD - 1.00 point, 95% CI - 1.48 to - 0.52; P < 0.01). Music during labor and delivery was also associated with a decreased pain at 1 h postpartum (MD - 2.40 points, 95% CI - 4.30 to - 0.50), and decreased anxiety level during active phase of labor (MD - 19.90 points, 95% CI - 38.72 to - 1.08), second stage of labor (MD - 49.40 points, 95% CI - 69.44 to - 29.36), and at 1 h postpartum (MD - 27.00 points, 95% CI - 47.37 to - 6.63). CONCLUSION: In nulliparous women with singleton pregnancies at term, listening to music reduces the pain level, and the anxiety level during labor. TRIAL REGISTRATION: Clinicaltrials.gov NCT03779386.
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Ansiedade/terapia , Dor do Parto/terapia , Trabalho de Parto , Musicoterapia , Música , Adulto , Feminino , Humanos , Itália , Trabalho de Parto/psicologia , Manejo da Dor/métodos , Paridade , Período Pós-Parto , Gravidez , Resultado da Gravidez , Resultado do Tratamento , Escala Visual Analógica , Saúde da MulherRESUMO
BACKGROUND: Gallbladder duplication is a rare anatomic anomaly characterized by the presence of an accessory gallbladder. OBJECTIVE: To appraise the prevalence and significance of prenatal diagnosis of duplication of gallbladder in a multicenter study. METHODS: This was a multicenter case series with literature review. Clinical records of all consecutive pregnant women with a prenatal diagnosis of duplication of gallbladder, who were referred to our Centers were included in this study. The diagnosis of duplication of gallbladder was based on the evidence of double gallbladder in the standard abdominal circumference plane using grey scale. Postnatal magnetic resonance cholangiopancreatography (MRCP) 3D and postnatal neonatal abdominal ultrasound scan were offered soon after birth to confirm the diagnosis of double gallbladder. The systematic review was conducted using electronic databases from inception of each database through December 2019. RESULTS: Five studies, including a total of seven cases, were identified as relevant and included in the systematic review. Gestational age at diagnosis ranged from 20 to 32 weeks of gestation. Associated findings were reported in only one case, where the fetus presented with a left-sided gallbladder, and bilateral renal agenesis with Potter sequence. None of the included cases reported abnormal karyotype. Our cases series included nine cases (0.03%) of double gallbladder with postnatal confirmation, with an overall incidence of this anomaly of 0.03%.Associated findings were reported in only two cases, one with IUGR and omphalocele, that opted for I-TOP, and one with single umbilical artery. Except for the I-TOP, neonatal outcome was favorable in all cases. CONCLUSIONS: Duplication of the gallbladder is a very rare malformation with only seven cases reported in the literature diagnosed prenatally. This anomaly is not associated with abnormal karyotype, and the neonatal outcome is favorable if there are no other associated abnormalities.
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Doenças da Vesícula Biliar/diagnóstico por imagem , Vesícula Biliar/anormalidades , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Vesícula Biliar/diagnóstico por imagem , Humanos , Gravidez , Estudos RetrospectivosRESUMO
BACKGROUND: Normal morphometry of the vermis and its relation to the posterior fossa (PF) rule out most major anomalies of the cerebellum. However, accurate categorization of the position and size of the fetal vermis remains a challenge. OBJECTIVE: Our aim was to test a new method to assess the position and size of fetal vermis on 3-dimensional ultrasound (3D-US). METHODS: We measured the vermian-crest angle (VCA) in normal fetuses using multiplanar 3D-US. We also assessed the diameters (superoinferior, anteroposterior, and horizontal) and volume of the vermis. The Spearman rank test and linear and polynomial regression analyses were used for statistical purposes. RESULTS: We included 126 fetuses. Mean ± SD gestational age (GA) was 26.3 ± 4.6 (range 17-35.5) weeks. Mean ± SD superoinferior, anteroposterior, and horizontal diameters were 16.2 ± 4.9, 11.2 ± 3.6, and 5.6 ± 1.6 mm, respectively. Median (range) vermian volume was 0.50 (0.05-2.9) cm3. The VCA was 64.49° ± 11.45. We found no correlation between GA and VCA (r = 0.15; p = 0.13), a linear correlation between GA and vermian diameters, and a quadratic correlation between GA and vermian volume. CONCLUSIONS: We provide a new method to assess vermian position and size within the PF using 3D-US. The combined information may be of value for screening purposes, particularly to differentiate between the various pathological situations encountered within the PF.
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Vermis Cerebelar/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adulto , Estudos Transversais , Feminino , Humanos , Imageamento Tridimensional , Nomogramas , Gravidez , Estudos Prospectivos , Reprodutibilidade dos Testes , Adulto JovemRESUMO
OBJECTIVE: To illustrate the laparoscopic surgical management of a particular localization of extrauterine pregnancy misdiagnosed until 12 weeks gestational age, complicated by hemoperitoneum and abortion. DESIGN: Canadian Task Force III on the Periodic Health Examination's Levels of Evidence. SETTING: The prevalence of ectopic pregnancy among women presenting to an emergency department with first trimester bleeding, pain, or both ranges from 1% to 16% [1]. The most common localization of ectopic pregnancy is the fallopian tubes, whereas abdominal pregnancy accounts for at least 1% of extrauterine pregnancies. The reported incidence of abdominal pregnancy ranges from 1:10 000 to 1:30 000 pregnancies [2]. Abdominal pregnancy can be localized in the pelvic cul-de-sac, broad ligament, bowel, or pelvic sidewall. This rare type of ectopic pregnancy is often misdiagnosed until later in pregnancy, evolving in hemoperitoneum, abortion, embolism, or rarely, in diagnosed cases, live birth by cesarean section. In the literature, it is recommended that the placenta be left in situ in cases of abdominal pregnancy to avoid hemorrhage and organ injury, even though this approach may be associated with a higher rate of postoperative complications, such as infection, secondary bleeding, and cancer transformation [3]. We present a case of abdominal pregnancy in which the gestational sac was implanted in the broad ligament and resulted in hemoperitoneum at 12 weeks gestational age. INTERVENTION: In August 2010, a 35-year-old woman, gravida 3 para 1, presented at the Di Meglio ultrasound diagnostic center in Naples for a noninvasive prenatal ultrasound (bi-test) to confirm gestational age in what to that point had been considered a normal pregnancy at 12 weeks gestation. Ultrasound revealed an ectopic abdominal pregnancy with a live fetus located in the left parauterine side. A suspicious fluid level in the pouch Douglas was also detected, and so the woman was advised to go to an obstetric hospital for a medical evaluation of the clinical situation (starting hemoperitoneum). Later that same day, the woman presented at the Villa dei Platani Hospital in Avellino, where ultrasound confirmed increased fluid in the pouch of Douglas, along with initial signs of hemoperitoneum and loss of the fetal heartbeat. The woman was immediately transferred to the Malzoni Center for Advanced Endoscopic Gynecological Surgery in Avellino, where she underwent operative laparoscopy for removal of the abdominal pregnancy (surgeon, M.M.). Informed consent for the laparoscopic surgery was provided by the patient in accordance with local regulations. The patient also provided informed consent for the use of images and a video of the procedure. Institutional Review Board approval was not required. The procedure involved laparoscopic hemoperitoneum drainage (at least 500 mL of blood), left adnexectomy after transperitoneal identification of the left uretheral pathway, and complete removal of left broad ligament pregnancy abortion with consensual removal of the ectopic placenta. CONCLUSION: The laparoscopic management of abdominal pregnancy and hemoperitoneum resulting from rupture of the gestational chamber and abortion was optimal. With this minimally invasive technique, it was possible to drain the hemoperitoneum completely and then proceed to total removal of the gestational chamber and the fetus. Thanks to the magnification of the image by laparoscopy, it was also possible to completely remove the placenta and the cotyledons from the peritoneal surface, thereby avoiding possible postoperative bleeding, infection, and sepsis resulting from retention of incomplete removal of the placenta. On the first postoperative day, the patient was in excellent clinical condition, with a marked reduction in circulating ß-human chorionic gonadotropin. She was discharged on the second postoperative day and currently is in good health.
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Aborto Espontâneo/cirurgia , Laparoscopia/métodos , Gravidez Abdominal/cirurgia , Aborto Induzido/efeitos adversos , Aborto Induzido/métodos , Adulto , Gonadotropina Coriônica Humana Subunidade beta/sangue , Tubas Uterinas/cirurgia , Feminino , Idade Gestacional , Hemoperitônio/sangue , Hemoperitônio/cirurgia , Humanos , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Gravidez , Gravidez Abdominal/sangue , Gravidez Abdominal/diagnósticoRESUMO
Introduction: Vein of Galen malformations (VGMs) account for less than 1% of all intracranial vascular malformations. However, in fetal and pediatric populations, they represent the most common vascular malformation of the brain. For the effective management of this condition, an optimal knowledge of its prenatal and postnatal clinical features is mandatory. Methods: Articles published between 1 January 2003 and 31 January 2024, reported in PubMed and EMBASE, were evaluated for a systematic review analyzing the prenatal and postnatal features and management of fetal VGMs. Results: Thirty-one papers reporting information on 51 prenatally diagnosed VGMs were included. The most common prenatal features were fetal hydrocephalus (39%) and cardiomegaly (56%). Postnatal data for 43 VGM cases are described. The overall mortality was 58.14%. In total, 77.78% of the survivors had normal development. Conclusions: Close follow-up and a multidisciplinary approach are mandatory to manage this condition. Our study aimed to provide a guide for gynecologists, neonatologists, cardiologists, and neuroradiologists.
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INTRODUCTION: A congenital intrathoracic kidney (ITK) is a rare anomaly that is recognized to have four causes: renal ectopia with an intact diaphragm, diaphragmatic eventration, diaphragmatic hernia, and traumatic diaphragmatic rupture. We report a case of a prenatal-diagnosed ITK related to a congenital diaphragmatic hernia (CDH) and conducted a systematic review of all cases of the prenatal diagnosis of this association. CASE PRESENTATION: A fetal ultrasound scan at 22 gestational weeks showed left CDH and ITK, hyperechoic left lung parenchyma, and mediastinal shift. The fetal echocardiography and karyotype were normal. Magnetic resonance imaging at 30 gestational weeks confirmed the ultrasound suspicion of left CDH in association with bowel and left kidney herniation. The fetal growth, amniotic fluid, and Doppler indices remained within the normal range over time. The woman delivered the newborn via an at-term spontaneous vaginal delivery. The newborn was stabilized and underwent non-urgent surgical correction; the postoperative course was uneventful. CONCLUSIONS: CDH is the rarest cause of ITK; we found only eleven cases describing this association. The mean gestational age at diagnosis was 29 ± 4 weeks and 4 days. There were seven cases of right and four cases of left CDH. There were associated anomalies in only three fetuses. All women delivered live babies, the herniated kidneys showed no functional damage after their surgical correction, and the prognosis was favorable after surgical repair. The prenatal diagnosis and counseling of this condition are important in planning adequate prenatal and postnatal management in order to improve neonatal outcomes.
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BACKGROUND AND OBJECTIVES: The present study aims to provide prenatal 2-dimensional ultrasonographic (2D-US) nomograms of the normal cerebellar area. MATERIALS AND METHODS: This is a prospective cross-sectional analysis of 252 normal singleton pregnancies, ranging from 13 to 39 weeks of gestation. The operator performed measurements of the fetal cerebellar area in the transverse plane using 2D-US. The relationship between cerebellar area and gestational age (GA) was determined through regression equations. RESULTS: A significant, strong positive correlation was investigated between the cerebellar area with GA (r-value = 0.89), and a positive correlation indicates that with increasing GA, the cerebellar area increased in all the participants of the study. Several 2D-US nomograms of the normal cerebellar area were provided, and an increase of 0.4% in the cerebellar area each week of GA was reported. CONCLUSIONS: We presented information on the typical dimensions of the fetal cerebellar area throughout gestation. In future studies, it could be evaluated how the cerebellar area changes with cerebellar abnormalities. It should be established if calculating the cerebellar area in addition to the routine transverse cerebellar diameter may help in discriminating posterior fossa anomalies or even help to identify anomalies that would otherwise remain undetected.
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Enteric duplication cysts are rare congenital malformations of the gastrointestinal tract. Prenatal diagnosis can be achieved through ultrasound, which may reveal a cystic mass, though the differential diagnosis is broad. We report a case in which the prenatal ultrasound detection of an abdominal cystic mass prompted postnatal magnetic resonance imaging, leading to the diagnosis of an enteric duplication cyst. At 6 weeks of age, the infant developed an obstruction of the small bowel, requiring urgent surgical intervention. This case underscores the difficulties in differentiating abdominal cysts prenatally. Thorough prenatal and neonatal follow-up is crucial, and postnatal magnetic resonance imaging is sometimes essential for accurate diagnosis. The clinical course can be unpredictable, and complications that may arise could necessitate urgent surgical treatment.
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OBJECTIVE: We report the first case in which the onset of omphalocele was after the spontaneous rupture of an allantoic cyst. We hypothesize a causal link between the spontaneous rupture of the cyst and the herniation of the viscera. Case Presentation. A 36-year-old woman was diagnosed with an allantoic cyst during the first trimester. The allantoic cyst underwent spontaneous rupture during the 32nd week of gestation, and an omphalocele developed secondary to the cyst's rupture. Two days after birth, the peritoneum covering intestinal loops broke spontaneously and the newborn underwent successful urgent surgery. CONCLUSIONS: This case may suggest that the relative benignity of the allantoid cysts may recommend a close ultrasound follow-up in order to identify the onset of any complications, as a late third trimester onset of omphalocele. Prenatal diagnosis of such complications may allow multidisciplinary management of the pregnancy with planned cesarean section, prenatal pediatric surgery consultation, and neonatal surgery.
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OBJECTIVES: Oral salt substitutive therapy is pivotal for the survival of patients with congenital chloride diarrhea (CLD), however this therapy is unable to influence the symptoms severity. Butyrate has been proposed to limit diarrhea severity in CLD. Unfortunately, the optimal dose schedule is still largely undefined. In addition, butyrate seems not to be well-tolerated by all patients, with some subjects reporting diarrhea worsening. We investigated the efficacy of a step-up therapeutic approach with sodium butyrate in patients who experienced a diarrhea worsening or an absent improvement after the direct administration of 100 mg/kg/day of sodium butyrate. METHODS: The efficacy of a step-up therapeutic approach starting from 50 mg/Kg/day with a subsequent 25 mg/kg/day weekly increase up to 100 mg/kg/day of oral sodium butyrate was investigated in previously three unresponsive CLD children. RESULTS: The step-up therapeutic approach resulted effective in limiting diarrhea severity in all our three previously unresponsive CLD patients. CONCLUSIONS: Our results suggest the efficacy of the step-up therapeutic approach in CLD children.
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INTRODUCTION: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). METHODS: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed. The inclusion criteria were women with gestational age greater than 13 weeks of gestation. Exclusion criteria were fetuses with situs abnormalities, due to the hepatic venous ambiguity, and extrahepatic PRUV. The primary outcome was the incidence of intrahepatic PRUV in our cohort. The secondary outcomes were associated malformations. RESULTS: 219/57,079 cases (0.38%) of intrahepatic PRUV were recorded. The mean gestational age at diagnosis was 21.8 ± 2.9 weeks of gestations. PRUV was isolated in the 76.7%, while in 23.3% was associated with other major or minor abnormalities. The most common associated abnormalities were cardiovascular abnormalities (8.7%), followed by genitourinary abnormalities (6.4%), skeletal abnormalities (4.6%), and central nervous system abnormalities (4.1%). Within the cardiovascular abnormalities, the most common one was ventricular septal defect (six cases). CONCLUSION: In most cases PRUV is an isolated finding. Associated minor or major malformations are presented in the 23.3% of the cases, so this finding should prompt detailed prenatal assessment of the fetus, with particular regard to cardiovascular system.
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Feto , Ultrassonografia Pré-Natal , Feminino , Idade Gestacional , Humanos , Lactente , Gravidez , Estudos Retrospectivos , Veias Umbilicais/diagnóstico por imagemRESUMO
The objective of our study is to describe the sonographic findings of an extremely rare pathology. We therefore present two case reports of prenatal diagnosis of fetus-in-fetu (FIF) with a review of the literature. FIF is a benign disorder, unlike the teratoma with which often enter into the differential diagnosis, localized in most cases in the retroperitoneal space. Prenatal diagnosis is based mainly on ultrasound and radiological characteristics. The treatment of choice is surgical excision. The importance of prenatal diagnosis of fetus-in-fetu and the effect on subsequent management are described.
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Gêmeos Unidos , Aborto Eugênico , Adulto , Cesárea , Feminino , Doenças Fetais/diagnóstico por imagem , Humanos , Gravidez , Gravidez de Gêmeos , Gêmeos Unidos/cirurgia , Ultrassonografia Pré-NatalRESUMO
Fetal lymphangioma is a rare congenital malformation of lymphatic system that involve the skin and the subcutaneous tissue. The vast majority of the lymphangioma occurs in the neck. More rarely lymphangiomas may occur in the axillary region, including chest wall. Our consecutive case series study included three cases of fetal chest wall cystic lymphangiomas. In our cohort, fetal chest wall cystic lymphangiomas were the 18.8% of the all cases of lymphangiomas of axillary region. In all the three cases no other fetal abnormalities were evaluated, and the chest wall cystic lymphangiomas were unilateral, honeycombed in appearance, with multiple echo-free area of varying size in the mass, with no color flow on Doppler sonography, and with a trend to increase during the gestation. The incidence of chromosomal abnormalities was 33.3%, with one case out of the three being trisomy 21.The literature review revealed only seven cases of fetal chest wall cystic lymphangiomas. The cases were not associated with other abnormalities, nor with abnormal karyotype and only one case of fetal death was reported. Three women delivered vaginally. In summary, fetal chest wall cystic lymphangioma is a very rare malformations with only seven cases reported in the literature. This malformation is usually not associated with abnormal karyotype or other abnormalities and the neonatal outcome is favorable after surgical removal. Spontaneous vaginal delivery may be a safe approach for delivery women with fetal chest wall cystic lymphangioma. CONDENSATION: Fetal chest wall cystic lymphangioma is a very rare malformations with only seven cases reported in the literature. This malformation is usually not associated with abnormal karyotype or other abnormalities and the neonatal outcome is favorable after surgical removal. Spontaneous vaginal delivery may be a safe approach for delivery women with fetal chest wall cystic lymphangioma.
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Doenças Fetais/diagnóstico por imagem , Linfangioma Cístico/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Parede Torácica/diagnóstico por imagem , Adulto , Feminino , Humanos , Itália , Gravidez , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far. METHODS: We report on an additional family with two affected fetuses carrying a novel homozygous mutation in FLVCR2 gene, and describe the impact of known mutants on the protein structural and functional impairment. RESULTS: The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. The structural analysis of the present and previously published FLVCR2 mutations supports the hypothesis of a reduced heme import as the underlying disease's mechanism due to the stabilization of the occluded conformation or a protein misfolding. CONCLUSION: Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome.
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Hidranencefalia/genética , Proteínas de Membrana Transportadoras/genética , Receptores Virais/genética , Alelos , Sequência de Aminoácidos/genética , Feto/patologia , Heme/genética , Heme/metabolismo , Humanos , Hidranencefalia/fisiopatologia , Hidrocefalia/genética , Proteínas de Membrana Transportadoras/fisiologia , Mutação , Receptores Virais/fisiologia , Doenças Vasculares/genéticaRESUMO
OBJECTIVES: we aimed to report our experience about congenital high airway obstruction syndrome (CHAOS) that is a rare and fatal congenital anomaly; laryngeal atresia is the most frequent cause. Sonographic findings are enlarged echogenic lungs, dilated trachea, and ascites. METHODS: we performed a single-center case series analysis collecting antenatally through ultrasound examination, and some of them confirmed by autopsy. RESULTS: we report six cases of CHAOS diagnosed by antenatal ultrasonography between 2007 and 2013. CONCLUSION: to date literature provides very few individual case reports. This work describes typical sonographic findings of this syndrome and it underlines the importance of early prenatal diagnosis to improve prognosis thought an ex utero intrapartum treatment, that seems to be the only chance of survival for the affected fetus.