Prenatal diagnosis of fetal isolated right coronary artery to left ventricle fistula.

Coronary artery fistula (CAF) is a rare malformation and is seldom reported during pregnancy. Right coronary artery fistula commonly drains into the right ventricle, right atrium, or pulmonary artery. We describe here a rare case of fetal CAF draining into the left ventricle using cross-sectional and color Doppler echocardiography. We also summarized our experience in the diagnosis of this uncommon malformation, in which tracing the origin, course, and outlet of the abnormal intra-cardiac flow played a key role.

Pulmonary artery to left atrial fistula: haemodynamic changes traced from fetus to infancy until its interventional closure.

Communications between the pulmonary artery and left atrium cause cyanosis. The images document serial haemodynamic changes in such a fistula from fetal life to the postnatal period with a successful transcatheter intervention.

Congenital cervical cysts, sinuses, and fistulae in pediatric surgery.

Congenital cervical anomalies are essential to consider in the clinical assessment of head and neck masses in children and adults. These lesions can present as palpable cystic masses, infected masses, draining sinuses, or fistulae. Thyroglossal duct cysts are most common, followed by branchial cleft anomalies and dermoid cysts. Other lesions reviewed include median ectopic thyroid, cervical teratomas, and midline cervical clefts. Appropriate diagnosis and management of these lesions requires a thorough understanding of their embryology and anatomy. Correct diagnosis, resolution of infectious issues before definitive therapy, and complete surgical excision are imperative in the prevention of recurrence.

[Anomalies of the first branchial cleft - a review]. / Fehlbildungen der ersten Kiemenfurche - eine Übersicht.

BACKGROUND: Fistulas, sinus or cysts which trace back to anomalies of the first branchial cleft are seldom compared to lateral neck cysts and fistulas. For their accurate diagnosis and safe treatment special embryological and anatomical knowledge is necessary. MATERIAL AND METHODS: Embryology, anatomy, diagnosis and therapy are described and explained by 2 case studies in context to the current literature. RESULTS AND CONCLUSION: Sonography and contrast-enhanced radiological methods represent the fundamental pillar of the diagnosis. Therapeutically, the complete extirpation is the first choice. Surgeries on children, patients with extended fistulas and special cases of fistula routes require particular carefulness. In certain cases with pronounced findings and low levels of symptoms a "wait-and-see" strategy can be justified. Surgically, protection of the facial nerve and prevention of recurrences are the greatest challenge.

Establishment of a rescue program for anorectal malformations induced by retinoic acid in mice.

AIMS OF STUDY: Retinoid-mediated signal transduction plays a crucial role in the embryogenesis of various organs. We previously reported the successful induction of anorectal malformations in mice using retinoic acid (RA). Retinoic acid controls the expression of essential target genes for cell differentiation, morphogenesis, and apoptosis through a complicated interaction in which RA receptors form heterodimers with retinoid X receptors. In the present study, we investigated whether the retinoid antagonist, LE135, could prevent the induction of anorectal malformations (ARMs) in mice. METHODS: Retinoic acid was intraperitoneally administered as 100 mg/kg of all-trans RA on E9; and then the retinoid antagonist, LE135, was intraperitoneally administered to pregnant ICR strain mice on the eighth gestational day (E8), 1 day before administration of RA (group B) or on E9, simultaneously (group C) with RA administration. All of the embryos were obtained from the uteri on E18. Frozen sections were evaluated for concentric layers around the endodermal epithelium by hematoxylin and eosin staining. RESULTS: In group A, all of the embryos demonstrated ARM with rectoprostatic urethral fistula, or rectocloacal fistula, and all of the embryos showed the absence of a tail. In group B, 36% of the embryos could be rescued from ARM. However, all of the rescued embryos had a short tail that was shorter than their hind limb. The ARM rescue rates in group B were significantly improved compared to those in group A (P < .01). In group C, 45% of the embryos were rescued from ARM, but all of the rescued embryos had short tail. The ARM rescue rate in group C was significantly improved compared to that in group A (P < .01). However, there was no significant difference in the ARM rescue rate between group B and Group C. CONCLUSION: The present study provides evidence that in the hindgut region, RAR selective retinoid antagonist, LE135, could rescue embryos from ARM. However, the disturbance of all-trans RA acid was limited to the caudal region. Further study to establish an appropriate rescue program for ARM in a mouse model might suggest a step toward protection against human ARM in the future.

First branchial cleft fistula presenting with external opening on earlobe.

First branchial cleft fistula is a rare congenital malformation of the head and neck with an incidence of less than 10% of all branchial cleft defects. We herein report a 15-year-old girl who had a cystic mass in the postauricular region with an external opening on the posterior face of the earlobe. Surgical exploration revealed that a second sinus tract was passing through the conchal cartilage without going beyond the skin of the external acoustic meatus. The mass and the tract were excised along with the opening on the earlobe as well as the skin island surrounding the opening. The case was treated surgically with success . The significance of our case was the location of external opening on the earlobe.

Fourth branchial arch fistula.

A case is presented of a rare congenital anomaly of the fourth branchial arch, which presented as an abscess in the anterior triangle, related to a fistula communicating with the pyriform fossa. Histopathological examination showed the fistula to be associated with thyroid tissue supporting the hypothesis that the ventral wing of the fourth pouch contributes to the thyroid gland.

[Congenital neck masses. Embryonic origin and diagnosis. Report of the CIREOL]. / Pathologie cervicale congénitale. Origine embryologique et diagnostic. Rapport du CIREOL.

Various congenital cervical anomalies are found in the neck region including defects of the branchial apparatus (branchial, thymic and parathyroid anomalies) and vascular anomalies. They manifest as cystic masses, sinuses, fistulas and as ectopic glands. This multicentric retrospective imaging study done in 5 different radiological centers (4 adult radiological departments and 1 pediatric radiological department) shows the result in understanding the congenital cervical anomalies and include 63 patients. The age of the patients varied between 24 days-81 years with a mean age of 23 years. This study included 27 patients having congenital branchial pouch anomalies (4 cases of anomalies of obliteration of the 4 th arch), 14 cases of cervical cystic hygromas, 11 thyroglossal tract cyst cases, 1 congenital laryngocele case, 1 case of jugular ectasia, 3 cases of capillary haemangioma. The embryologic basis of these different malformations were reviewed. Their characteristic findings and sites were illustrated together with their typical et atypical appearances. The frequency of occurrence of each branchial anomaly were plotted, the second branchial cleft cyst being by far the most common congenital cystic neck mass (70%). The study revealed the role of different imaging modalities in the diagnosis of various congenital cervical anomalies, especially in some particular complicated cases of congenital neck masses presenting in adult. Imaging study helps the clinician to anticipate any difficulties in unforeseen circumstances that may arise including infection haemorrhage, or parapharyngeal extension. Understanding the various radiologic appearances of these anomalies is greatly aided by familiarity with their embryologic origin. Moreover, considering the anatomic location and radiologic appearance, the precise embryologic origin can be accurately predicted.

Congenital fistula of the apex of the pyriform sinus: an overlooked phenomenon of debatable origin.

Fistula of the pyriform sinus apex is an often overlooked entity which generally manifests itself as acute suppurative thyroiditis or recurrent deep neck abscesses in children or young adults. Two cases are reported. Arguments in favor of a fourth pharyngeal pouch origin are stressed and the surgical management is described.

Piriform sinus fistula and the ultimobranchial body.

Piriform sinus fistulae are an underlying abnormality common in patients with acute suppurative thyroiditis. The fistulae arise from the hypopharynx, and end in or adjacent to the thyroid lobe. These congenital fistulae seem to be remnants of one of the pharyngeal pouches in embryonic development, but their exact origin is still controversial. Resected specimens of the thyroid glands and fistulae from 15 patients were examined immunohistochemically with rabbit antisera to human calcitonin and thyroglobulin. The fistulae were lined by squamous, columnar or ciliated epithelium, and sometimes formed branches in the thyroid lobe. Near the branches solid cell nests existed. Mucous glands, follicular structures and thymic tissue were found in the fistula. The follicular structures stained for thyroglobulin. Immunostaining for calcitonin revealed aggregates of many C cells in the thyroid near the fistula. A few calcitonin-positive cells were also found in the fistula. These findings, along with the anatomical relation of the fistulae to major structures of the neck, strongly suggest that the fistulae are remnants related to the ultimobranchial body, and that the fistulae trace the migration route of the ultimobranchial body to the thyroid gland.

[Recurrent pseudothyroiditis and cervical abscess. The fourth branchial pouch's role. Apropos of 16 cases]. / Pseudothyroïdites et abcès cervicaux récidivants. Rôle de la 4e poche branchiale. A propos de 16 observations.

Among the causes of inflammatory swelling of the neck in children, the "cysts" and ducts joining in the hypopharynx deserve being individualized. This unrecognized pathology is indeed responsible for suppurative pseudothyroiditis or cervical abscesses relapsing in spite of adequate antibiotic treatment and incision-drainage. X-ray films may help as they often show the fistula. Diagnosis relies on hypopharyngoscopy. This investigation only may assess the origin of this "internal fistula" by showing the mucous opening of the bottom of the pyriform sinus, from which sometimes springs some pus when pressing the neck. The clear left predominance of this canal and its junction between the superior and inferior laryngeal nerves suggest that its origin could be the 4th branchial pouch. Its treatment consists of complete surgical excision, which avoids relapses.

Pharyngeal cleft sinuses and cysts, and other benign neck lesions.

Few pediatricians can expect to acquire great personal experience in dealing with many of the aforementioned lesions. Nevertheless, an appreciation of the usual presentation and natural history of most of the entities will usually permit an accurate diagnosis and guide to management in all but the most obscure conditions.

Quistes y fístulas branquiales / Cysts and branchial fistulas

Se estudia la historia clínica de una paciente con fístula branquial completa, bilateral, derivada del segundo surco branquial; y la de dos paciente con quiste branquial. El trayecto fistuloso externo drenaba a la piel de la parte alta del cuello, en ambos lados, y fueron extirpados diez años antes; el trayecto fistuloso interno en el lado derecho quedó residual, y drenaba a la fosa amigdalina; formó con los años un seno o "quiste" con la correspondiente tumoración en el cuello, que fue por lo que la paciente nos consultó. El quiste en cada uno de los otros dos paciente no tuvo trayecto fistuloso, y fueron clasificados de tipo II y III de Bailey, respectivamente. Se describen los hallazgos quirúrgicos encontrados a la luz del conocimiento embriológico

Ontogenetic study of the hepatogastroesophageal anastomotic omental veins.

The ontogenetic study of connections between the foregut venous plexus and the intrahepatic venous system through the omentum minus was studied. This study was performed in 20 embryos (6-30 mm crown-rump (CR) length) and 10 human fetuses (31-71 mm CR length). One or two anastomotic veins were observed in each of the 6-19 mm CR length embryos. These veins run through the cranial area of the omentum minus. Their enteric extremity is located at the level of the gastroesophageal junction while the hepatic extremity runs into the ductus venosus (9 cases), sinusoids of the left liver lobe (1 case), left branch of the portal vein (1 case) or into the subdiaphragmatic intervitelline anastomosis (1 case). The transient feature of anastomotic omental veins was enhanced, and its chronological relationship with the vena gastrica sinistra was analyzed in order to obtain an ontogenetic explanation to the uncommon adult cases which have been published.

[2 modalities in the embryogenic process of frontonasal cysts and fistulae]. / Deux modalités dans le processus embryogénique des kystes et fistules fronto-nasaux.

The two principal embryogenic theories, persistence of residual structures remaining after closure of the anterior neuropore and inclusion of epiblastic derivatives in the prenasal space, may be combined, with resulting two embryonic varieties of these malformations. Glabellar cysts, with or without fistulae extending them downwards, and which remaining at superficial level may perforate the true nasal bones. Other fistulae can develop which extend deeply and present variable dilatations with a more or less oblique path upwards depending on the level of their opening into the nose.