Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report.
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ABSTRACT:
SUBMITTER: Xu YQ
PROVIDER: S-EPMC5526091 | biostudies-other | 2017 Aug
REPOSITORIES: biostudies-other
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Project description:Congenital cystic adenomatoid malformation is a rare pulmonary malformation, but is the most common lung malformation observed in children. In developing countries, such as Morocco, prenatal diagnosis is missing. Congenital cystic adenomatoid malformation may occur after birth in the presence of complications and needs a computed tomography scan for confirmation. However, our lack of awareness of this malformation has been responsible for a late and wrong diagnosis along with therapeutic errors. We report the first case in Morocco where diagnosis is confirmed by histology after death.A 10-month-old Arab boy was prescribed various antibiotics (including anti-staphylococcal) and endured repeated chest drainages, leading to his death just after radiological diagnosis and instant surgery.The goal of this case report is to firmly express the need for both pediatricians and radiologists to enlarge diagnosis investigations, especially of congenital or constitutional entities in children, as soon as recurrence of respiratory distress and pulmonary infections are manifested. We also emphasize this important entity because of its frequency, to avoid the eventual therapeutic errors.
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Project description:Sonographic findings of cerebral arteriovenous malformations in the fetus are uncommon and usually regard aneurysm of the Galen vein. Outcome of arteriovenous malformations is usually severe. We report a case of a fetus at 21 weeks' gestation with a rarer arteriovenous malformation, referred to us for echocardiography on account of a suspicious cardiomegaly at obstetrical scan. Upon examination, we found cardiomegaly, together with an associated moderate tricuspid regurgitation, however, there were no clear features of tricuspid dysplasia. Considering an unusually dilated superior vena cava, we found via color Doppler imaging a systodiastolic flow at Color Doppler progressing. Subsequent MRI of the central nervous system determined the localization in the sinus dura mater. Due to an already evident hemodynamic impact, the parents opted for the termination of the pregnancy. Autopsy confirmed a voluminous arteriovenous malformation of the transverse sinus of the dura mater, severe cardiomegaly, mainly of the ventricles, and hypoplasia of the lungs.
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Project description:RationaleChromosomal 3q deletion is a recurrent genomic alternation, which is rarely reported in clinic.Patient concernsA 27-year-old woman underwent amniocentesis for cytogenetic analysis and single nucleotide polymorphism (SNP) array analysis at 27?weeks of gestation, due to ventricular septum defect in prenatal ultrasound findings.DiagnosesG-banding analysis showed the karyotype of the fetus was normal and the couple also had normal karyotypes. However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205)?×?1. There are 12 genes located in this locus.InterventionsThe couple refused SNP array to testify the 3q29 microdeletion was inherited or de novo and they chose termination of pregnancy.OutcomesThe deleted region in the fetus overlapped with part 3q29 microdeletion syndrome, which was characterized by learning disability, speech delay, mental deficiency, ocular abnormalities and craniofacial features. In addition, no similar/overlapping 3q29 microdeletion cases were reported according to the published literature and database.LessonsFor the chromosomal microscopic imbalances partially overlapping with the defined pathogenic syndrome, deleted/duplicated size, genetic materials and phenotypic diversity should be taken into consideration when genetic counseling is offered by the clinicians.
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Project description:IntroductionUrorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. We report a prenatally sonographic diagnosed case of the partial URSMS, and review the literature to summarize the prenatal features.Case report and reviewA 37-year old woman was referred at 24 weeks of gestation for fetal abdominal cyst. Detailed sonographic examination was done and revealed the vesicocolic fistula, distended colon, absence of perianal hypoechoic ring, pyelectasis, and small stomach bubble. The URSMS was suspected.Amniocentesis was done and karyotyping revealed 46,XY. Furthermore, chromosomal microarray analysis (CMA) was performed for the first time in URSMS and an alteration of 111.8Kb deletion was detected in 16p13.3 which was located inside the RBFOX1 gene. Parental studies showed that the deletion was inherited from the father who has nomal clinical phenotype.The woman elected to terminate the pregnancy at 25 weeks gestation and postmortem examination confirmed the diagnosis of partial URSMS.The published studies were reviewed and 28 cases of URSMS with conducted prenatal ultrasonography were collected in this report. The most common sonographic description, as suspicious signs of URSMS, were severe oligohydramnios or anhydramnios, urinary tract anomalies, fetal intra-abdominal cysts, and dilated bowel. Also, enterolithiasis and vesicocolic fistula were relatively infrequent but highly specific feature of URSMS.ConclusionsURSMS is difficult to be diagnosed prenatally. However, it has characteristic features that can be detected by fetal ultrasonography, and a precise prenatal sonographic examination is crucial for diagnosing URSMS. Besides, more genomic profiling studies are needed to elucidate the causality.
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Project description:Arteriovenous malformations of the brain (bAVMs) are plexuses of pathological arteries and veins that lack a normal capillary system between them. Intracranial hemorrhage (hemorrhagic stroke) is the most frequent clinical manifestation of AVM, leading to lethal outcomes that are especially high among children and young people. Recently, high-throughput genome sequencing methods have made a notable contribution to the research progress in this subject. In particular, whole-exome sequencing (WES) methods allow the identification of novel mutations. However, the genetic mechanism causing AVM is still unclear. Therefore, the aim of this study was to investigate the potential genetic mechanism underlying AVM. We analyzed the WES data of blood and tissue samples of a 30-year-old Central Asian male diagnosed with AVM. We identified 54 polymorphisms in 43 genes. After in-silica overrepresentation enrichment analysis of the polymorphisms, the SIRT1 gene variant (g.67884831C>T) indicated a possible molecular mechanism of bAVM. Further studies are required to evaluate the functional impact of SIRT1 g.67884831C>T, which may warrant further replication and biological investigations related to sporadic bAVM.
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Project description:Background: Patients with deletions involving the long arm of chromosome 1 are rare, and the main aim of this study was to refine the genotype-phenotype correlation. Case Report: In this report, a 28-year-old pregnant woman, gravida 2 para 1, at 25+4 weeks of gestation underwent ultrasound examination in our institute. The ultrasonographic findings of the fetus were as follows: (1) fetal growth restriction; (2) cleft lip and palate; (3) bilateral renal hypoplasia; (4) lateral ventriculomegaly; (5) single umbilical artery; (6) absent stomach; (7) coronary sinus dilatation with persistent left superior vena cava, ventricular septal defect and unroofed coronary sinus syndrome. Chromosomal microarray analysis of amniotic fluid from the fetus revealed a 28.025 Mb deletion in 1q23.3q31.2, spanning from position 164,559,675 to 192,584,768 (hg19). Conclusion: Genotype-phenotype correlation might improve prenatal diagnosis of fetuses with chromosome 1q deletion. PBX1 could be a candidate gene for fetal growth restriction, renal hypoplasia and congenital heart disease. Fetal growth restriction was accompanied by decreased renal volume in the fetus. Combined with ultrasonic examination, the application of chromosomal microarray analysis will provide accurate prenatal diagnosis.
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Project description:Pyriform sinus fistula is uncommon and easily misdiagnosed. Most reported cases occur in children and are associated with either acute suppurative thyroiditis or deep neck infection. Asymptomatic pyriform sinus fistula is difficult to diagnose because it can manifest as an incidental thyroid nodule with highly suspicious malignant features on ultrasonography. The patient was a 41-year-old man with asymptomatic thyroid nodules incidentally detected on ultrasonography. Surgery was performed under the suspicion of thyroid cancer. Pathology findings revealed multiple cystic walls lined by ciliated columnar cells with stratified squamous epithelial cysts in a background of inflammatory and lymphoid cells. Barium swallow examination performed 2 weeks later revealed a sinus tract measuring 1.8 cm that arose from the apex of the left pyriform sinus. The diagnosis and management of pyriform sinus anomalies are challenging. The majority of physicians, including some otolaryngologists, lack an understanding of the disease, which should be considered one of the important differential diagnoses of neck masses. Barium swallow examination, ultrasonography, computed tomography, and laryngoscopy are useful to diagnose this condition.
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Project description:RationalePersistent urogenital sinus (PUG) with uterus didelphys and double vagina is a rare urogenital anomaly. The diagnosis is based on magnetic resonance examination and cystoscopy. To the best of our knowledge, there is no literature report of PUG diagnosed by ultrasound alone.Patient concernA 23-year-old woman presented with atypical menstruation and recurrent hematuria for 13 years and recurrent lower abdominal pain for 12 years.DiagnosisPUG was diagnosed through multiple ultrasound modalities, including transabdominal 2-dimensional ultrasound, transrectal bi-plane high-frequency ultrasound, and contrast-enhanced ultrasound. We diagnosed this malformation preoperatively by accurately measuring the length of urethra and common channel through multimodal ultrasound imaging.InterventionsUrethra separation and reconstruction, vaginal pull-through and artificial vaginoplasty, and bilateral hysterosalpingectomy were performed.OutcomesThe postoperative course was uneventful. She was urinating normally after half a year and used continuous vaginal dilatation to avoid stenosis.LessonsPUG associated with uterus didelphys and double vagina is an extremely rare malformation of the reproductive system. Multimodal ultrasound imaging can be used to diagnose this malformation preoperatively clearly and to accurately measure the length of urethra and common channel, providing an imaging basis for preparing an operative plan.
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