Intrathyroidal Branchial Cleft-like Cyst with Heterotopic Salivary Gland-type Tissue

A rare case is described of intrathyroidal branchial cleft-like cyst associated with unusual heterotopic tissues including the salivary gland type tissue, fat, and cartilage. This coexistence in the thyroid gland has not been described previously, to our knowledge. The patient was a 7-year-old girl with a growing mass in the left lateral neck. The ultrasonography revealed a cystic lesion in the left thyroid. Histologically, the cyst was lined by squamous or respiratory-type epithelium resting on the fibrous tissue containing lymphoid tissues with follicle formation and solid cell nests (SCNs). This cyst was intimately associated with heterotopic tissues including lobules of well-differentiated seromucinous salivary glands, mature fat tissue, and islands of the cartilage. This association of branchial cleft-like cyst with SCNs and unusual heterotopic tissues in the normal thyroid suggests a possible origin from the SCN as ultimobranchial vestigial structures.     

An Isolated Left Common Carotid Artery from the Main Pulmonary Artery: Possible Malseptation of the Truncoaortic Sac

An isolated left common carotid artery (LCA) is an extremely rare condition with only four reported cases. In each case, the isolated carotid artery connects to the right or left pulmonary artery via the ductus arteriosus and the embryologic basis for the abnormalities is believed to reflect an error in the development of the branchial arches. We present a case of an isolated LCA connecting to the main pulmonary artery in association with a right aortic arch and an anomalous origin of the left subclavian artery from the descending aorta. The left ligamentus arteriosus was identified separately. This may represent a disturbance in the septation of the truncoaortic sac secondary to abnormal migration of neural crest cells rather than a pure developmental anomaly of the branchial arches.     

Cervical infection secondary to pyriform sinus fistula of branchial origin

Complete third branchial arch anomalies are rare and have been described only in case reports, affecting mainly children and typically presenting as a cervical inflammatory process. Anomalies of the third and fourth branchial apparatus, though rare, usually present as sinuses/incomplete fistulas of pyriform sinus or recurrent suppurative thyroiditis. A 6‐year‐old girl presented with a small opening on the left side of her anterior neck, which had been present since birth and was associated with recurrent infection. She had no history of incision and drainage of swelling. Computed tomography with contrast injection into the cervical opening revealed a fistulous tract extending from the cervical neck skin to the pyriform fossa. Complete excision of the fistulous tract and left hemithyroidectomy were performed. There was no recurrence at 22 months of follow‐up.     

Abnormal growth of the thyroid cartilage in the DiGeorge syndrome

Larynges from 17 patients with DiGeorge syndrome (DGS) and from 14 patients with tetralogy of Fallot (TOF) (11 non-DGS and 3 possible but unproven DGS) were dissected, measured, and compared to a control population of comparable body length. The patients with DGS and the 3 patients with TOF suspected of having DGS showed the following: small thyroid cartilages with increased anterior angle, abnormally short superior cornua, low ratio of mean superior cornual length to distance between superior cornual tips, and delayed time of maximal rate of increase in superior cornual length relative to increase in body length. The hypoplasia, delayed maximal growth rate and persistent fetal shape of the thyroid cartilage (predominantly a derivative of the fourth branchial arch) in DGS, indicates that the causative process in the syndrome affects not only the third and fourth branchial pouches, but also, by a contiguous field defect, other derivatives than great vessels of the fourth-sixth branchial arches.     

Goldenhar syndrome with rare associations

Goldenhar syndrome is a malformation complex involving the structures arising from first and second branchial arches, the first pharyngeal pouch, first branchial cleft and primordia of the temporal bone. Though the syndrome itself is not very rare, the presence of polydactyly and hydrocephalus, which are rare associations, prompted us to report this case.     

An Unusual Lateral Neck Cyst with the combined features of a Bronchogenic, Thyroglossal, and Branchial Cleft Origin

Soft tissue cystic masses arising in the neck in children are commonly of embryologic origin and often surgically excised. Depending on location and histology, they can be classified as thyroglossal duct, branchial cleft, or rarely bronchogenic in origin. We present an unusual case of an infant with a lateral neck mass that communicates with the midtrachea. The histologic appearance is that of a combination of the features seen in cysts of branchial cleft and thyroglossal duct origin. The possible embryologic development of such a lesion is discussed.     

Second branchial cleft anomalies in children: a literature review

Branchial cleft anomalies are the second most common head and neck congenital lesions in children. It may sometimes be a part of branchio-oto-renal (BOR) syndrome, so in patients with branchial cleft anomalies associated with a complaint of auricular deformity or a similar history and findings in other family members, we should take an additional examination to find the possibility of BOR syndrome. Complete excision is essential for good prognosis. For the management of branchial cleft anomalies, various methods have been reported. Endoscopically assisted dissection technique and transoral robot-assisted surgery were used in the management of fistula and allowed excellent visualization of the pharyngeal component of the lesion and a minimally invasive approach. It is essential for the surgeon to fully comprehend the congenital lesions to attain the correct preoperative diagnosis and plan for an appropriate surgical approach to prevent the most common complication and recurrence in these lesions. The following sections discuss the anatomy, common presentation, auxiliary examination, differential diagnosis, the current principles of surgical treatment and prognosis for second branchial cleft anomalies in children, and discussed the branchio-oto-renal syndrome.     

Vascular pathogenesis of unilateral craniofacial defects

The term hemifacial microsomia refers to unilateral defects in development of structures derived from the first and second branchial arches. Recently we evaluated three unrelated children who had a similar pattern of unilateral craniofacial defects that was associated with other structural abnormalities having a disruptive vascular pathogenesis. The clinical findings in these patients suggest that one cause of hemifacial microsomia is in utero interruption of blood flow.     

Acute thyroiditis caused by Eikenella corrodens and abnormality of the left pyriform sinus

A case of suppurative thyroiditis is reported. The initial course was insidious and mimicked De Quervain subacute thyroiditis. The abscess was surgically drained. It contained numerous Eikenella corrodens bacilli. Fibroscopy of pharyngo-laryngeal region showed that the left pyriform sinus was abnormal. Surgical removal of a fistula of the fourth branchial pouch was performed in order to prevent recurrence of the thyroiditis.     

Salivary fistulae

 Three cases of unusual cervical fistulae are presented with a review of the literature to caution against labelling all lateral cervical fistulae as simple branchial fistulae or midline ones as dermoid cysts. Accepted: 25 April 1999     

Cervical thymic cysts: CT appearance of two cases including a persistent thymopharyngeal duct cyst

The differential diagnosis of cervical cysts in children includes common entities such as branchial cleft cysts, thyroglossal duct cysts, and cystic hygromas. Congenital thymic cysts are uncommon and often misdiagnosed as either branchial cleft cysts or cystic hygromas. However, they may have an appearance on CT that can be characteristic. The course of the descent of embryologic thymic tissue in the neck to the mediastinum indicates the potential site of deposition of an ectopic cervical thymic cyst. In a child, a cystic lesion that has an intimate relationship to the carotid sheath is likely to be a thymic cyst. Of the approximately 100 cases of vestigial cervical thymus or thymic cysts that have been reported in children, only 5 cases of a persistent thymopharyngeal duct cyst have been described [1–5]. In two of these five, the persistent thymopharyngeal duct cyst was demonstrated by CT [1, 2]. We report one additional case of a cervical thymic cyst and one case of a persistent thymopharyngeal duct cyst both depicted by CT.     

Agnathia (severe microghathia), aglossia and choanal atresia in an infant

A neonate is reported here, who was born with severe mandibular hypoplasia, complete absence of the tongue, unilateral choanal atresia, contralateral choanal stenosis and developed severe airway obstruction at birth. Arrested development of the ventral first branchial arch most likely underlies the clinical deficits. Most reported cases of agnathia have been lethal but the infant reported here has survived into infancy with a tracheostomy and feeding gastrostomy. Her clinical features, assessment and management are discussed.     

Truncus arteriosus and facial dysmorphism

Abstract Facial features of infants with truncus arteriosus were photographed and reviewed. Anomalies included hypertelorism, low set ears, micrognathia, down-slanting palpebral fissures, short philtrum and small mouths. Associated cardiovascular defects were interrupted aortic arch, double aortic arch, right aortic arch and aberrant brachiocephalic vessels. Potential teratogenic factors included maternal diabetes, syphilis, alcohol ingestion, carbimazole therapy and infant chromosomal anomalies.
The facial features, together with the rare cardiac abnormalities of truncus arteriosus and aortic arch defects are similar to those described in Di George syndrome (defect of fourth branchial arch and derivatives of third and fourth pharyngeal pouches). However none of these patients had symptomatic hypocalcaemia or absence of the thymus.
It is concluded that this association of truncus arteriosus, aortic arch abnormalities and facial anomalies involves first and fourth branchial arch maldevelopment, and indicates embryological insult between the fourth and seventh weeks of gestation.     

Truncus arteriosus and facial dysmorphism

Facial features of infants with truncus arteriosus were photographed and reviewed. Anomalies included hypertelorism, low set ears, micrognathia, down-slanting palpebral fissures, short philtrum and small mouths. Associated cardiovascular defects were interrupted aortic arch, double aortic arch, right aortic arch and aberrant brachiocephalic vessels. Potential teratogenic factors included maternal diabetes, syphilis, alcohol ingestion, carbimazole therapy and infant chromosomal anomalies. The facial features, together with the rare cardiac abnormalities of truncus arteriosus and aortic arch defects are similar to those described in Di George syndrome (defect of fourth branchial arch and derivatives of third and fourth pharyngeal pouches). However none of these patients had symptomatic hypocalcaemia or absence of the thymus. It is concluded that this association of truncus arteriosus, aortic arch abnormalities and facial anomalies involves first and fourth branchial arch maldevelopment, and indicates embryological insult between the fourth and seventh weeks of gestation.     

Cutaneous Bronchogenic Cyst of the Back: A Case Report and Review of the Literature

Cutaneous and subcutaneous cysts with ciliated pseudostratified columnar (respiratory) epithelium present a diagnostic dilemma. We report a case of a bronchogenic cyst occurring on the back. The differential diagnosis includes branchial cleft cyst, thyroglossal duct cyst, cutaneous ciliated cyst, and mature cystic teratoma. We review reports of extrapulmonary bronchogenic cysts and discuss their possible embryology.     

Efficacy of OK-432 local injection for the treatment of a neonatal branchial cleft cyst: a case report

We herein present a case of a neonatal cervical cyst, which was diagnosed prenatally, and markedly decreased in size and disappeared after a local injection therapy of OK-432. A 0-day-old boy had an abnormal prenatal ultrasonography scan suggestive of rt. cervical cyst, measuring about 25 mm in diameter at 29 weeks’ gestation. At birth, an elastic soft mass, measuring about 30 mm in diameter, was found on the right side of his neck. Computed tomography (CT) scans showed a giant cyst, which extended from the upper level of epipharynx to the upper mediastinum, and the contents were air and fluid. At 20 days of age, ultrasonography (US)-guided needle aspiration was performed. The aspirated fluid contained no epithelial cells, but many lymphocytes and neutrophils based on a cytological analysis. After the local injection of OK-432 had been performed four times, the right neck cyst had almost completely disappeared on US scans. During the local injection therapy, we analyzed the other sample of the second aspiration fluid of the neck cyst. Several clusters of epithelial cells, columnar epithelium, squamous cells, and ciliated epithelium were thus cytologically observed. Therefore, a final diagnosis of a branchial cleft cyst was made. The local injection of OK-432 was thus found to be an effective treatment for branchial cleft cysts.     

Setleis Bitemporal "Forceps Marks" Syndrome and Its Pathogenesis: A Case Report

Setleis bitemporal "forceps marks" syndrome is characterized by "forceps marks" and a peculiar facies. The syndrome has previously been reported mainly in the Puerto Rican population. We describe here a Japanese boy with the syndrome. In addition, the hypothesis is presented that the Setleis syndrome may result from an insufficient migration of neural crest cells into the frontonasal process and the first branchial arch.     

Recurrent suppurative thyroiditis due to pyriform sinus fistula: a case report

Acute suppurative thyroiditis is a rare disease, particularly in childhood. We present a case with recurrent acute suppurative thyroiditis due to a pyriform sinus fistula originating from the fourth branchial pouch. The typical symptoms of a piriform sinus fistula are recurrent left-sided pain and swelling of the neck with signs of acute bacterial inflammation. Diagnosis should be made by high resolution ultrasound, barium meal studies and endoscopic examination. During acute exacerbations treatment with antibiotics is indicated, but permanent cure can only be attained by complete fistulectomy.     

Congenital imperforate submandibular duct in a newborn

Varried conditions such as ranula, epidermal/dermal inclusion cyst, lymphatic cyst, thyroglossal cyst, sialolithiasis, branchial cleft cyst are known to produce swelling in the floor of mouth. Rarely imperforate or duplication anomaly of submandiblar duct may produce cystic lesion in the floor of mouth. We present a case of congenital imperforate submandibular duct with cyst formation in a newborn. We also review the literature regarding management.     

Aplasia of the First and Second Branchial Arches

Woon, K. Y. and Tan, K. L. (1979). Aust. Paediatr. J., 15, 275–277. Aplasia of the first and second branchial arches. A case with the very rare syndrome of otocephaly is reported. It is possible to diagnose this condition in-utero by radiography. Since this is a lethal condition, remedial action can be taken in early pregnancy.