Rare Congenital Anomaly (rare + congenital_anomaly)

Distribution by Scientific Domains


Selected Abstracts


A case of cholecystohepatic duct with atrophic common hepatic duct

HPB, Issue 4 2003
A Schofield
Background Cholecystohepatic ducts are rare congenital variants of the biliary tree. Case outline An 81-year-old woman presented with biliary colic and elevated liver function tests. An ERCP demonstrated a common bile duct stone and stricture of the common hepatic duct. An operative cholangiogram demonstrated an atrophic common hepatic duct and retrograde filling of the gallbladder through a large cholecystoheptic duct. The patient had a cholecystectomy and reconstructive cholecystohepatic duct jejunostomy. Discussion This case demonstrates a rare congenital anomaly where the gallbladder fills retrograde during an intraoperative cholangiogram despite clipping of the cystic duct. The major path of biliary drainage was through a large cholecystoheptic duct similar to a gallbladder interposition; however, the common hepatic duct was still present but atrophic. This anomaly has not been described previously. [source]


A medieval example of a sagittal cleft or ,butterfly' vertebra

INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 6 2003
T. Anderson
Abstract A mature adult medieval male with a rare congenital anomaly, a sagittal-cleft or butterfly vertebra, is presented. Clinical cases are frequently associated with axial as well as soft-tissue defects. The present case, based only on skeletal evidence, appears to be an isolated finding. The aetiology of the clefting is outlined and palaeopathological evidence for the condition is included. Copyright © 2003 John Wiley & Sons, Ltd. [source]


Anomalous unilateral single pulmonary vein: Two cases mimicking arteriovenous malformations and a review of the literature

JOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 3 2005
JM Hanson
Summary Total anomalous pulmonary venous drainage is a rare congenital anomaly. It usually involves a pulmonary to systemic venous shunt and most cases have a septal defect in order to survive. Anomalous pulmonary venous drainage with pulmonary venous shunting is an extremely rare and entirely benign entity. We present two such cases, in which there was atresia of the left superior pulmonary vein and drainage via a tortuous collateral vein to the left inferior pulmonary vein. This collateral was mistaken on plain film and CT for a pulmonary arteriovenous malformation. Awareness of this anomalous unilateral single pulmonary vein and its radiological appearances may help in avoiding unnecessary pulmonary angiography. [source]


Cleft sternum: Case report and literature review

PEDIATRIC PULMONOLOGY, Issue 4 2004
FRCS Eng (Paeds), R.M. Abel BSc
Abstract The isolated sternal cleft is a rare congenital anomaly that presents from birth to adulthood. We describe the late presentation and management in a child with this condition. The modern investigative and operative options are reviewed. Pediatr Pulmonol. 2004; 37:375,377. © 2004 Wiely-Liss, Inc. [source]


Orthotopic, but Reversed Implantation of the Liver Allograft in Situs Inversus Totalis,A Simple New Approach to a Difficult Problem

AMERICAN JOURNAL OF TRANSPLANTATION, Issue 7 2009
S. C. Rayhill
Situs inversus totalis is a rare congenital anomaly in which the heart and abdominal organs are oriented in a mirror image of normal. It provides a unique challenge as there is no established technique for liver transplantation in these patients. Employing two major alterations from our standard technique, a liver was transplanted in the left subphrenic space of a patient with situs inversus totalis. First, the liver was flipped 180° from right to left (facing backward). Second, a reversed cavaplasty (anterior, not posterior, donor suprahepatic caval incision) was performed. Otherwise, it was standard, with end-to-end anastomoses of the portal vein, hepatic artery and bile duct. Three years after the entirely uneventful transplant, the recipient continues to enjoy the benefits of a normally functioning liver. The described technique prevented torsion, kinking and tension on the anastomosed structures by allowing the liver to sit naturally in an anatomical position in the left hepatic fossa. As it required no special measurements or maneuvers, the technique was easy to execute and required no donor liver size restrictions. This novel technique, with a reversed cavaplasty and a 180° right-to-left flip of the liver into a left-sided hepatic fossa, may be ideal for situs inversus totalis. [source]


Polyorchidism: a three-case report and review of the literature

ANDROLOGIA, Issue 1 2010
M. Savas
Summary The presence of more than two testes confirmed by histology is called polyorchidism. Polyorchidism is an extremely rare congenital anomaly with a few more than 100 cases reported in the literature. The majority of reported cases are asymptomatic patients, others present with cryptorchidism, hydrocele, varicocele, epididymitis, infertility, testicular malignancy and testicular torsion. Over a 2-year period, we encountered three patients who were found to have polyorchidism; two men presented with cryptorchidism and one with chronic scrotal pain. Physical examination of the first and the third patient revealed normal testes in the scrotal sac, the other scrotal sac was empty and small solid mass (atrophic left testes) was palpated in the inguinal canal. Ultrasonographic examination of the scrotum and inguinal region confirmed the findings of the physical examination. Ultrasonographic examination of the second patient revealed supernumerary testes within the scrotum. Orchiectomy was made on the first and third patients' supernumerary testes and ipsilateral inguinal high ligation was applied for herniorrhaphy. A conservative approach was preferred for the second patient, maybe preserving a potentially functional supernumerary testis to improve the capacity for spermatogenesis. The risk of malignancy justifies the removal of an atrophic and ectopic testis in polyorchidism. However, it would appear safe to preserve a viable intrascrotal supernumerary testis found incidentally at surgery, provided that the patient is followed-up in the long term. [source]


Communicating oesophageal duplication cyst with heterotopic pancreatic tissue , an unusual cause of recurrent pneumonia in an infant

ACTA PAEDIATRICA, Issue 9 2010
Preena Uppal
Abstract Communicating oesophageal duplication cyst with heterotopic pancreatic tissue is rare congenital anomaly and unusual cause of recurrent pneumonia in children. We report a 10-month-old boy who presented with history, examination and investigations suggestive of aspiration pneumonia since birth. The imaging studies revealed a thin walled cavity communicating with the oesophageal lumen that was excised by surgery. Histopathology showed squamous epithelial lining of cyst with heterotopic pancreatic tissue. Conclusion:, Communicating oesophageal cyst causing persistent signs and symptoms can be an unusual cause of recurrent pneumonia in an infant that can be diagnosed by further imaging studies. [source]