scholarly journals Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with cystic fibrosis and meconium peritonitis in a female neonate 4 days of age – case report and review of the literature

2020 ◽  
Author(s):  
Adrian Surd ◽  
Dan Gheban ◽  
Aurel Mironescu ◽  
Cornel Aldea ◽  
Horațiu Gocan
Keyword(s):  
Congenital Anomaly ◽  
Abdominal Distension ◽  
Colonic Perforation ◽  
Prune Belly Syndrome ◽  
Feeding Intolerance ◽  
Meconium Peritonitis ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
Distended Abdomen ◽  
Hypoperistalsis Syndrome

 We present a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a four days old female infant who presented with abdominal distension, bilious vomiting, massive hematuria and feeding intolerance which was first interpreted as Prune Belly Syndrome (PBS), referred to our department after iatrogenic gastric and colonic perforation. Berdon syndrome or MMIHS is a rare congenital anomaly characterized by a massive enlarged bladder, distended abdomen, microcolon, functional obstruction of the gastrointestinal tract, and malrotation.

scholarly journals Gallbladder Agenesis and Cystic Duct Absence in an Adult Patient Diagnosed by Magnetic Resonance Cholangiography: Report of a Case and Review of the Literature

2009 ◽  
Vol 2009 ◽  
pp. 1-4 ◽  
Author(s):  
Valeria Fiaschetti ◽  
Giovanna Calabrese ◽  
Silvia Viarani ◽  
Gabriele Bazzocchi ◽  
Giovanni Simonetti
Keyword(s):  
Congenital Anomaly ◽  
Magnetic Resonance ◽  
Adult Patient ◽  
Biliary Tract ◽  
Cystic Duct ◽  
Congenital Abnormalities ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
Biliary Tract Abnormality ◽  
Gallbladder Agenesis

Gallbladder agenesis (GA) is a rare congenital anomaly of the biliary system often associated with other congenital abnormalities. Patients become symptomatic in 23% of cases. GA is often misinterpreted as other diseases, therefore, leading to unnecessary surgery. We report a case of congenital GA associated to cystic duct absence and a biliary tract abnormality diagnosed by Magnetic Resonance with Cholangiopancreatography.

Aplasia of the Epiglottis: A Rare Congenital Anomaly

1998 ◽  
Vol 77 (1) ◽  
pp. 51-55 ◽  
Author(s):  
Jose A. Bonilla ◽  
Michael P. Pizzuto ◽  
Linda S. Brodsky
Keyword(s):  
Heart Failure ◽  
Computed Tomography ◽  
Congenital Anomaly ◽  
Obstructive Sleep Apnea ◽  
Case Report ◽  
Clinical Course ◽  
Embryological Development ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
Obstructive Sleep

Aplasia of the epiglottis is a rare laryngeal anomaly. We present a case of absence of the epiglottis in a child whose clinical course has been followed for nine years. She required a tracheostomy at two years of age for obstructive sleep apnea which resulted in heart failure; she was eventually decannulated at age seven. This case report highlights the clinical challenges faced in the identification and treatment of the sequelae of this defect. Both endoscopic and computed tomography (CT) documentation are provided. Embryological development and a review of the literature are also discussed.

scholarly journals Unusual Variant of Coronal Bladder Duplication Associated with Glans Diphallia: A Case Report and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Reza Khorramirouz ◽  
Amin Bagheri ◽  
Abdol-Mohammad Kajbafzadeh
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Coronal Plane ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
Bladder Duplication ◽  
Unusual Variant ◽  
Complete Duplication

Bladder duplication is a rare congenital anomaly which occurs in the sagittal or coronal plane and it can be associated with other anomalies. It has been previously classified as complete duplication of the bladder and urethra or incomplete duplication with two bladders and common urethra. However, complete duplication of bladder with a single urethra has been rarely reported. Herein, we present a patient with a different variation of bladder duplication in the coronal plane with two urethras originating from the main bladder and associated glans diphallia.

scholarly journals Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence in a Female Newborn with Absent Perineal Openings

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Azhar Farooqui ◽  
Alaa AlAqeel ◽  
Zakaria Habib
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Abdominal Wall ◽  
Ambiguous Genitalia ◽  
Prune Belly Syndrome ◽  
Rare Congenital Anomaly ◽  
Prune Belly ◽  
Bilateral Cryptorchidism ◽  
Original Case ◽  
Classical Triad

Prune belly syndrome (PBS) is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM) is a lethal condition characterized by presence of ambiguous genitalia, absent perineal openings (urogenital and anal), and lumbosacral abnormalities. In this original case report, the authors discuss the presentation and management of what would be analogous to a Woodhouse category 1 PBS in a female newborn associated with an overlapping presentation of URSM.

scholarly journals Liver Transplantation Using a Graft from a Donor with Situs Inversus Totalis: A Case Report and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Xu-Yong Sun ◽  
Ke Qin ◽  
Jian-Hui Dong ◽  
Hai-Bin Li ◽  
Liu-Gen Lan ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Liver Transplantation ◽  
Situs Inversus ◽  
Vascular Anatomy ◽  
Situs Inversus Totalis ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
Successful Case ◽  
Graft Positioning ◽  
Opening Up

It is critical to effectively use every available organ to meet the increasing demands for liver transplantation. Situs inversus is a rare congenital anomaly caused by obstruction of viscus rotation during embryonic development. Situs inversus was once regarded as a contraindication to liver transplantation because of the technical difficulties associated with the unique vascular anatomy and concern about achieving accurate graft positioning. Here, we present a successful case of liver transplantation using a graft from a donor with situs inversus totalis. The related experience will contribute to opening up new realms for the use of such rare organ resources.

Surgical Treatment of a Rare Congenital Anomaly of the Vertebral Artery: Case Report and Review of the Literature

Neurosurgery ◽  
1991 ◽  
Vol 28 (3) ◽  
pp. 416-420 ◽  
Author(s):  
François Vincentelli ◽  
Giuseppe Caruso ◽  
Pierre B. Rabehanta ◽  
Marc Rey
Keyword(s):  
Congenital Anomaly ◽  
Surgical Treatment ◽  
Vertebral Artery ◽  
Embryological Development ◽  
Review Of The Literature ◽  
Present Patient ◽  
Rare Congenital Anomaly ◽  
Clinical Symptomatology ◽  
Anatomical Anomaly ◽  
Vertebrobasilar System

Abstract A case of an abnormal loop of the vertebral artery compressing both the cervicomedullary junction and the accessory nerve is reported. The embryological development of the vertebrobasilar system may explain this anatomical anomaly. The possibility of an abnormal location of the vertebral artery may complicate the lateral C1-C2 puncture for myelography. Only five similar cases have been reported previously, but none of them presented any clinical symptomatology, and surgical treatment was never required. The present patient was cured by microvascular decompression. The pathogenetic and surgical implications are discussed in light of the literature.

scholarly journals A Case of Double Gallbladder with Adenocarcinoma Arising from the Left Hepatic Duct: A Case Report and Review of the Literature

2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Masahiro Kawanishi ◽  
Yukio Kuwada ◽  
Yutaka Mitsuoka ◽  
Shogo Sasao ◽  
Teruo Mouri ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Hepatic Duct ◽  
Review Of The Literature ◽  
Endoscopic Retrograde ◽  
Left Hepatic Duct ◽  
Rare Congenital Anomaly ◽  
Open Laparotomy ◽  
Double Gallbladder ◽  
Biliary Anomaly

Double gallbladder is a rare congenital biliary anomaly, but an accessory gallbladder arising from the left hepatic duct is a more remarkably rare congenital anomaly. We report a case of double gallbladder with adenocarcinoma and gallstones, which was preoperatively diagnosed by endoscopic retrograde cholangiopancreatography (ERCP) and then confirmed by open laparotomy. A review of the literature is presented.

Ectrodactyly-ectodermal dysplasia-clefting syndrome

2000 ◽  
Vol 90 (9) ◽  
pp. 460-464 ◽  
Author(s):  
GJ Kelman ◽  
RC Aronoff
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Female Patient ◽  
Surgical Management ◽  
Ectodermal Dysplasia ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
Rare Syndrome ◽  
Clinical Triad ◽  
Musculoskeletal Involvement

Ectrodactyly-ectodermal dysplasia-clefting syndrome is a rare congenital anomaly that affects tissues of mesodermal and ectodermal origin. Musculoskeletal involvement frequently requires orthopedic intervention. The authors present a review of the literature pertaining to this rare syndrome as well as a case report of a female patient who exhibited the complete clinical triad. A description of the surgical management of her condition is also presented.

scholarly journals Rare Presentation of Gerbode Defect in a 4-Month-Old Nigerian and a Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Barbara E. Otaigbe ◽  
Douye Orubide
Keyword(s):  
Congenital Anomaly ◽  
Left Ventricle ◽  
Failure To Thrive ◽  
Right Atrial ◽  
Review Of The Literature ◽  
Rare Presentation ◽  
Rare Congenital Anomaly ◽  
Nigerian Child ◽  
Gerbode Defect ◽  
Atrial Shunt

A Gerbode defect is a very rare congenital anomaly which presents as a direct or an indirect type. We report a 4 month old Nigerian child who presented with poor feeding and failure to thrive and whose echocardiography confirmed an indirect Gerbode with a direct left ventricle to right atrial shunt due to adherent leaflets of the tricuspid valve. This was confirmed by surgery done outside the country.

scholarly journals Prune Belly syndrome: a case report

2020 ◽  
pp. 51-56
Author(s):  
O.L. Tsymbalista ◽  
◽  
B.M. Ziniak ◽  
O.O. Kurtash ◽  
V.P. Valchyshyn ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Conflict Of Interest ◽  
Congenital Malformations ◽  
Clinical Course ◽  
Prune Belly Syndrome ◽  
Non Profit ◽  
Rare Congenital Anomaly ◽  
Regional Council ◽  
Clinical Hospital ◽  
Prune Belly

Objective: to acquaint doctors of various specialties with clinical course, early diagnostics, and treatment strategy for a rare congenital anomaly — Prune Belly syndrome in children. Materials and methods. Inpatient medical records of municipal non-profit enterprise «Ivano-Frankivsk Regional Children's Clinical Hospital» of Ivano-Frankivsk Regional Council. Results. The paper presents the clinical course of a rare congenital anomaly — Prune Belly syndrome in two children. The disease occurs chiefly among boys manifesting itself as multiple congenital malformations including deficiency or aplasia of abdominal muscles, congenital anomalies of the kidneys and urinary tract (hydronephrosis, megaureter, hydroureter, megacystis, vesicoureteral reflux), bilateral cryptorchidism. In addition, Prune Belly syndrome can coexist with urethral pathology, as well as skeletal, cardiovascular, respiratory, gastrointestinal malformations. Conclusion. Modern views on the development, clinical course, and diagnosis of a rare congenital disease with multiple organ malformations — Prune Belly syndrome have been presented for doctors of various specialties. Prenatal diagnosis, detection of potential congenital malformations after birth allows selecting the correct algorithm for monitoring vital organ functions, syndromic treatment and making timely decision on internal organ transplantation. The study was carried out in accordance with the ethical principles of the Declaration of Helsinki. The study protocol was approved by the Local Ethics Committee of municipal non+profit enterprise «Ivano-Frankivsk Regional Children's Clinical Hospital» of Ivano-Frankivsk Regional Council. The informed consent to participate in the research study was obtained from all the children's parents. Conflict of Interest. The authors declare they have no conflict of interest. Key words: children, Prune Belly syndrome, diagnosis, therapy.

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