A rare case of complete second arch branchial fistula in a 7-year-old child.
Ontology highlight
ABSTRACT:
SUBMITTER: Shankar VG
PROVIDER: S-EPMC3700165 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Publications
A rare case of complete second arch branchial fistula in a 7-year-old child.
Shankar Venkateswara Gomathi VG Babu Thirunavukkarasu Arun TA Swami Hartimath Basavanand HB
National journal of maxillofacial surgery 20120701 2
Branchial fistulae are formed due to the abnormal persistence of the embryonic branchial clefts. Complete branchial fistula with internal and external opening is extremely rare. We report a rare case of complete second arch branchial fistulae in a 7-year-old boy, which was confirmed by a fistulogram. The tract was completely excised and the patient was successfully treated. ...[more]
Similar Datasets
Project description:IntroductionAnomalies of the first branchial cleft are rare and represent 10% of lateral cervical malformations. Very few cases have been described in literature. In our research, we didn't find cases of adults with first branchial cleft fistulas. First branchial cleft fistulas in adults are difficult to diagnosticate, and the surgery of the parotid gland to extract the fistula requires to be precautious.Case presentationThe aim of this work is to present an extremely rare case of a 65 years-old patient with first branchial cleft fistula. Fistula excision surgery completed with superficial parotidectomy were performed. No sign of recurrency were found after 6 months surveillance.DiscussionFirst branchial cleft fistula is hard to diagnosticate, especially with adults. Very few cases of adult male are described in the literature. It is often misdiagnosed with parotid tumours or as otitis with ear drainage.The treatment of First branchial cleft fistula is surgical. A complete resection of the tract is necessary to prevent recurrency. It usually requires a superficial parotidectomy and the fistula tract passes under the parotid gland.ConclusionFirst branchial cleft fistulas are rare, and forms with adults are extremely rare to encounter. Imagery can't always help to diagnosis. Surgery is indicated in the management of this pathology, with preservation of the facial nerve.
| S-EPMC8463818 | biostudies-literature
Project description:A five year girl had eczema and allergic rhinitis in the past, presented with a history of cough, shortness of breath for the last one month. Her chest -X-ray showed a left side pleural effusion, and a computed tomographic scan (CT) of the chest showed left side hydropneumothorax. Left side 21 Fr drain was inserted. Her clinical condition deteriorated despite antimicrobial therapy, and she required mechanical ventilatory support due to respiratory distress. She also developed a right-sided pneumothorax that was managed by inserting a 21 Fr chest drain. A video-assisted thoracoscopic VATS procedure was done to staple the lung bullae and drain the empyema. Her post-operative chest X-ray showed good lung expansion. Pleural fluid culture report was positive for candida. She was commenced on antifungal microbial therapy. Two days later, she developed again left side pneumothorax, which was again managed by left intercostal drain. We were unable to wean her off from mechanical ventilatory support due to a significant air leak due to bronchopleural fistula. A posterolateral thoracotomy was performed, and the bronchopleural fistula was closed. She was extubated the next day, and intercostal drains were removed on the 4th post-operative day.
| S-EPMC8193081 | biostudies-literature
Project description:First branchial arch syndrome is a congenital disorder characterized by a wide spectrum of anomalies in the first branchial arch, mainly affecting the lower jaw, ear, or mouth, during early embryonic development. We sought to confirm a suspected case of this syndrome by making differential diagnosis and taking an intensive clinical approach. A 12-year-6-month-old girl with a horizontally impacted left canine in the maxilla had the history of digital fusion in her hands and feet and has been suffering from hearing impairment of her left ear. To diagnose this case and make her careful treatment plan, we further carried out cephalometric analysis and mutation analysis. Her face looks like asymmetry and is not apparently symmetric by cephalometric analysis. Mutation analysis of the patient was conducted by direct DNA sequencing of the goosecoid gene, which is an excellent candidate for determination of hemifacial microsomia, but no changes in this gene were identified. We could not precisely diagnose this case as first branchial arch syndrome. However, certain observations in this case, including hearing impairment of the left ear, allow us to suspect this syndrome.
| S-EPMC3913285 | biostudies-literature
Project description:Introduction and importanceTriple A (Allgrove) syndrome is an autosomal recessive multi-organ disease, caused by a mutated gene on chromosome 12q13 in most cases, characterized by the classic triad of Alacrimia, Achalasia and Adrenal insufficiency; along with neurologic abnormalities and many other manifestations in some cases.While short stature is not a rare manifestation in the context of this syndrome, it remains without identifiable cause.Case presentationHere we described an 8-year-old female who had feeding difficulties, recurrent vomiting, hyperpigmentation and short stature. She was diagnosed with Allgrove syndrome after confirmation of adrenal insufficiency, Achalasia, and Alacrimia. Despite correcting these disorders, we did not notice an improvement in the patient's height, which promote us to further investigations, which eventually led to the diagnosis of growth hormone deficiency as a cause of short stature.The treatment consisted of Hydrocortisone, artificial tears, pneumatic balloon dilation, Nifedipine and Recombinant growth Hormone with a great improvement of her condition.ConclusionThis case found an unusual association between Allgrove syndrome and growth hormone deficiency, a treatable cause of short stature, which in turn is a frequent manifestation of unknown etiology in this syndrome.
| S-EPMC9486606 | biostudies-literature
Project description:A 6-year-old child with an episodic history of ulcerations over buccal mucosa was found to have severe inflammation on the palatal aspect of permanent first molars with grade 2 mobility bilaterally. Radiographical features were suggestive of bone loss around permanent molars extending to the distal aspect of the deciduous first molars. The clinical and radiographical findings were indicative of periodontal degeneration without any apparent cause visible intraorally. Further biopsy was done from the rashes present on the malar prominences, which showed nodular aggregates of atypical cells in superficial dermis. These large histiocytic cells with vesicular nuclei and nuclear grooves were immunopositive for CD1a and S100, concluding the diagnosis of Langerhans cell histiocytosis. For treatment, patient was referred to Department of Haemato-oncology and chemotherapy was suggested as per protocol.
| S-EPMC6663152 | biostudies-literature
Project description:In 1985, a frozen mummy was found in Cerro Aconcagua (Argentina). Archaeological studies identified the mummy as a seven-year-old Inca sacrifice victim who lived >500 years ago, at the time of the expansion of the Inca Empire towards the southern cone. The sequence of its entire mitogenome was obtained. After querying a large worldwide database of mitogenomes (>28,000) we found that the Inca haplotype belonged to a branch of haplogroup C1b (C1bi) that has not yet been identified in modern Native Americans. The expansion of C1b into the Americas, as estimated using 203 C1b mitogenomes, dates to the initial Paleoindian settlements (~18.3 thousand years ago [kya]); however, its internal variation differs between Mesoamerica and South America. By querying large databases of control region haplotypes (>150,000), we found only a few C1bi members in Peru and Bolivia (e.g. Aymaras), including one haplotype retrieved from ancient DNA of an individual belonging to the Wari Empire (Peruvian Andes). Overall, the results suggest that the profile of the mummy represents a very rare sub-clade that arose 14.3 (5-23.6) kya and could have been more frequent in the past. A Peruvian Inca origin for present-day C1bi haplotypes would satisfy both the genetic and paleo-anthropological findings.
| S-EPMC4642457 | biostudies-literature
Project description:Cranial neural crest cells (NCCs) require neuropilin signaling to reach and invade the branchial arches. Here, we use an in vivo chick model to investigate whether the neuropilin-1 knockdown phenotype is specific to the second branchial arch (ba2), changes in NCC behaviors and phenotypic consequences, and whether neuropilins work together to facilitate entry into and invasion of ba2. We find that cranial NCCs with reduced neuropilin-1 expression displayed shorter protrusions and decreased cell body and nuclear length-to-width ratios characteristic of a loss in polarity and motility, after specific interaction with ba2. Directed NCC migration was rescued by transplantation of transfected NCCs into rhombomere 4 of younger hosts. Lastly, reduction of neuropilin-2 expression by shRNA either solely or with reduction of neuropilin-1 expression did not lead to a stronger head phenotype. Thus, NCCs, independent of rhombomere origin, require neuropilin-1, but not neuropilin-2 to maintain polarity and directed migration into ba2.
| S-EPMC3077279 | biostudies-literature
Project description:Introductionand importance: Brucellosis is a common infection in Mediterranean region that manifests with various symptoms. Brucellosis should be considered as a possible cause of recurrent fever even if the symptoms are not suggestive of brucellosis.Case presentationWe report a case of 10-year-old child with no significant past medical history who presented with a 4-day period peripheral edema and ascites without fever, arthralgia or abdominal pain.Clinical discussionProper investigations showed normal cardiac and renal functions; ultrasonography showed no portal vein hypertension. Albumin and total protein were also within normal. Complete blood count revealed pancytopenia; bone marrow aspiration and biopsy revealed hypercellularity that could be attributed to hypersplenism as a possible cause. Liver biopsy revealed non-specific inflammatory findings and also did not lead to a definite diagnosis. While broadening the scope of deferential diagnosis in order to reach a final diagnosis, Wright serum agglutination was tested positive (1/640) and we diagnosed a brucellosis infection. A proper management with Antibiotics ensued; the patient had uneventful recovery on treatment until complete clinical and imaging resolution of signs and symptoms.ConclusionAlthough brucellosis is considered a multi-systemic disease with atypical presentations, early diagnosis of brucellosis with management causes rapid recovery and favorable prognosis. We report a case of ascites and edema in context of Brucella infection which was completely resolved after treatment. This condition is rare especially in previously healthy child and after excluding other possible causes. We aim to share our case to keep brucellosis in mind as a differential diagnosis when dealing with infectious diseases with non-specific symptoms.
| S-EPMC8718825 | biostudies-literature
Project description:Chromatin immunoprecipitation of Hoxa2 in second branchial arch cells from E11.5 mouse embryos detected by SOLiD sequencing
2012-01-17 | E-MTAB-711 | biostudies-arrayexpress
Project description:IntroductionShoulder dislocation is the most common type of all joints dislocations. It occurs when there is separation in the glenohumeral joint. Posterior dislocation accounts for less than 4% of all shoulder dislocations. In fact, it is misdiagnosed in 60-79% of the patients in the initial presentation. In children a posterior shoulder dislocation is usually caused by a congenital anomaly or in those who have ligamentous laxity. Traumatic posterior shoulder dislocation without fracture of the proximal humeral epiphysis in children is very rare, and only few cases have been reported.Case presentationThis report presents a rare case of a 10-year-old child with a traumatic posterior shoulder dislocation without fracture.Discussionthis patient present with a rare posterior dislocation, which is direct and without fracture. It does not present with a marked deformity and it is hard to detect without a complete physical examination and radiographic series.ConclusionPosterior shoulder dislocations are rare, and even more rare in children without fractures. It is easily missed and needs careful history taking, physical exam and correct x-ray view to reach the diagnosis.
| S-EPMC6108073 | biostudies-literature