Congenital malformations of the branchial arches are not infrequent. Among them first branchial cleft anomalies are common and they are to remain asymptomatic. The case reported is one of symptomatic fistula auris, which at the beginning led us to the initial diagnosis of an orbital cellulitis, secondary to ethmoidal sinusitis. We have made a review of the literature dealing with these anomalies and we expose in the paper an update perusal of the clinical features and the management of this rare complication.
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Cureus
October 2024
Internal Medicine, Dr. Kiran C. Patel College of Osteopathic Medicine, Nova Southeastern University, Fort Lauderdale, USA.
Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia or hemifacial microsomia, is a rare congenital anomaly involving the first and second branchial arches. In this case report, we present a distinctive instance of a 43-year-old male with Goldenhar syndrome who presented with nausea and recurrent bilious vomiting. Initial diagnostic imaging raised concerns about pancreatitis, leading to a comprehensive evaluation that revealed gallstone pancreatitis as the cause of his symptoms.
View Article and Find Full Text PDFAnn Otol Rhinol Laryngol
November 2024
Surgical Outcomes Center for Kids (SOCKs), Vanderbilt University Medical Center, Nashville, TN, USA.
Background: Branchial cleft cysts are pediatric congenital anomalies that can present as sinus tracts to the neck. Intraoperative methylene blue dye with fibrin glue has been suggested as an effective tool for tracking the tract's depth to help definitively excise. In this large retrospective study of 118 patients spanning a decade, we aim to elucidate outcomes of branchial cleft anomaly excision without methylene blue dye.
View Article and Find Full Text PDFAm J Case Rep
November 2024
Department of Otorhinolaryngology-Head and Neck Surgery, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Radiol Case Rep
January 2025
Department of Internal Medicine, NAIHS, Kathmandu, Nepal.
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare congenital disorder affecting craniofacial development. It is caused by an autosomal dominant mutation, primarily in the TCOF1 gene, which impacts the development of the first and second branchial arches. We present the case of a 12-year-old male with bilateral conductive hearing loss and deformed ears, whose clinical and imaging findings were consistent with Treacher Collins syndrome.
View Article and Find Full Text PDFCureus
November 2024
Emergency Department, Salisbury NHS District Hospital, Salisbury, GBR.
This report presents a case of a six-year-old male patient with recurrent left-sided neck abscesses who presented four times over a span of two years. At each presentation, the child had developed left-sided neck swelling, pain, and fevers that required hospital admission. In the patient's most recent admission in 2020, a fourth branchial cleft anomaly was confirmed on CT, and the patient was taken to the operation theatre for ultrasound-guided aspiration and cauterisation of the sinus fistula tract under direct pharyngoscopy.
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