Anomaly

Lipoid proteinosis (Urbach-Wiethe disease): A case report from India

August 31, 2008     Kadambari Batra, DLO, DNB, Anil Safaya, MS, and Kiran Aggarwal, MS
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Abstract

Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal-recessive anomaly that primarily affects the skin and the mucosa of the upper aerodigestive tract in children. It is caused by hyaline deposits in tissues. Hoarseness secondary to laryngeal involvement is frequently the first presenting feature. It is important to consider this disease in the differential diagnosis of hoarseness because it might lead to life-threatening airway compromise. We report a case of lipoid proteinosis in a 12-year-old girl who presented with hoarseness and skin lesions.

Intratracheal ectopic thyroid tissue presenting with protracted airway obstruction: A case report

July 31, 2008     Mo Khan, MD, Peter G. Michaelson, MD, Major, USAF, MC, FS, and Michael L. Hinni, MD
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Abstract

Intratracheal ectopic thyroid tissue is a rare finding, with few cases reported in the literature. Ectopic thyroid tissue results when the thyroid gland fails to descend to its final position during early development. These lesions present in various locations, and the clinician should be aware of their existence and presenting signs and symptoms.

Transcervical resection of the styloid process in Eagle syndrome

June 30, 2008     Timothy J. Martin, MD, David R. Friedland, MD, PhD, and Albert L. Merati, MD
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Abstract

We conducted a retrospective study to determine the treatment outcomes of 6 patients who had either unilateral or bilateral elongated styloid processes and symptoms consistent with Eagle syndrome. Five of these patients had undergone transcervical resection of the styloid process, with relief of symptoms over the follow-up period (mean: 8 mo). Two of the 5 patients experienced a transient weakness in the marginal mandibular nerve, and both recovered completely. The transcervical surgical approach to resection in patients with elongated styloid processes and Eagle syndrome appears to be safe and effective, although the risk for transient marginal mandibular nerve weakness is notable.

Near-complete tracheal ring deformity: A case report

June 30, 2008     Melissa L. Somers, MD and Dana L. Suskind, MD
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Abstract

Long-segment near-complete tracheal ring deformity is a rare condition with few documented cases. We present the case of a 7-week-old male with total anomalous pulmonary venous return and long-segment near-complete tracheal rings. We discuss the presentation, evaluation, and management of near-complete and complete tracheal rings.

An unusual case of adult airway obstruction from a lymphovenous malformation

June 30, 2008     Maj. Wayne J. Harsha, MD, Maj. James V. Crawford, MD, Lt. Col., and Douglas M. Sorensen, MD, FACS
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Abstract

Lymphatic, venous, and mixed lymphovenous malformations are low-flow lesions that are present at birth and grow proportionately with the patient. We describe an unusual presentation of a lymphovenous malformation in an adult. A 19-year-old man presented to the emergency department with complaints of recent upper respiratory tract symptoms, increasing left-sided sore throat, voice change, odynophagia, dysphagia, and occasional subjective fevers and blood-tinged sputum. Examination revealed the presence of a left peritonsillar bulge consistent with a peritonsillar abscess; however, findings on needle aspiration were negative. The patient was admitted for intravenous steroid and antibiotic therapy. Within 24 hours, his airway became compromised, and he underwent an awake tracheotomy and biopsy, which showed a lymphovenous malformation. Magnetic resonance imaging the following day revealed a large, poorly circumscribed, heterogeneous left parapharyngeal mass consistent with a vascu-lar malformation. With continuation of the steroids and antibiotics, the lesion regressed, and the patient was subsequently decannulated. At the 1-year follow-up, he exhibited no clinical symptoms, and he was in good health off steroids.

Transmastoid labyrinthotomy approach for cochlear implantation in a common cavity malformation: A case report

May 31, 2008     Masoud Motasaddi Zarandy, MD
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Abstract

The standard transmastoid facial recess approach has become the popular technique for cochlear implantation. Although this approach has been used for implantation in patients with common cavity malformations, in patients with this anomaly and severe abnormalities of the middle ear, this approach may be technically difficult and makes the facial nerve vulnerable to injury. Using a direct approach to the common cavity through the mastoid cavity, we have successfully performed cochlear implantation in 1 patient with a common cavity malformation. This transmastoid labyrinthotomy approach to the common cavity is an effective and simple technique for placing the electrode array. It minimizes the risk to the facial nerve and may decrease postoperative cerebrospinal fluid leaks.

Aberrant ectatic internal carotid artery in the middle ear

March 31, 2008     Adnan Safdar, FRCS, Joseph P. Hughes, FRCS, and Rory McConn Walsh, FRCS
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Abstract

We report the case of a 34-year-old man with pulsatile tinnitus and a reddish mass in the anteroinferior quadrant of the middle ear. Physical examination and imaging were unable to establish a diagnosis, so an exploratory tympanotomy was performed. Exploration revealed the presence of an ectatic aberrant internal carotid artery in the middle ear. Aberrations of the internal carotid artery in the middle ear are rare. Even so, our case is unusual in that all initial investigations had failed to establish the diagnosis. This case highlights the limitations of modern imaging techniques in certain situations.

Congenital midline cervical cleft: A report of two cases

March 1, 2008     Christine Franzese, MD, James D. Hayes, MD, and Kristie Nichols, MD
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Abstract

Congenital midline cervical cleft is an uncommon malformation of the anterior neck. We report the cases of two patients with such an anomaly who had been born within 10 days of each other at a regional hospital in upstate New York. Fewer than 100 cases of congenital midline cervical cleft have been reported in the literature, and to the best of our knowledge, none of the other reported cases occurred so close to each other in terms of time and location. Diagnoses in both cases were established by clinical observation soon after birth. No likely epidemiologic commonalities between the two patients were found. Head and neck surgeons should be familiar with these malformations because early surgical excision is critical. Both of our patients were surgically treated at an early age, one with a Z-plasty and one with a straight closure. In both cases, the patients exhibited good functional and cosmetic results at 5 years of age.

Unilateral inferior turbinate agenesis: A case report

January 1, 2008     Fatma Çaylakli, MD, Ismail Yilmaz, MD, Cem Hürcan, MD, Cem Özer, MD, and Levent Özlüoĝlu, MD
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Abstract

Many common anatomic variations in the nasal cavity have been observed, including paradoxical turbinates and pneumatization of the inferior, middle, and superior turbinates. We describe a case of a rare anomaly—unilateral inferior turbinate agenesis—in a 65-year-old man who had presented with epistaxis. During evaluation, anterior rhinoscopic examination revealed the absence of the right inferior turbinate; this finding was confirmed on computed tomography. The patient had never undergone nasal or sinus surgery, and he denied ever having expelled anything of significance from his nasal cavity. This case merits attention because of the rarity of reports on turbinate agenesis.

Congenital familial bilateral branchial tracts: A rare case

January 1, 2008     Julia Vent, MD, PhD, Candace G. Grier, MD, Donald A. Leopold, MD, and Barbara B. Heywood, MD
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Abstract

The embryologic development of the head and neck is directed by an ensemble of numerous genes. Embryologic malformations of the head and neck are rare. When they do occur, the most common are thyroglossal duct cysts and branchial anomalies. Most malformations are apparent at birth. Complete excision at an early stage is recommended to prevent complications such as infection. We describe an extremely rare case of bilateral branchial tracts in which there was evidence of a genetic etiology. To the best of our knowledge, this is the first case of familial bilateral branchial tracts to be described in the literature.

Bifid epiglottis

October 31, 2007     Stefanie K. Horne, MD, Peter G. Michaelson, MD, and Erik Weitzel, MD
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An evaluation of auditory exostoses in 621 prehistoric human skulls from coastal Brazil

July 31, 2007     Maria Mercedes M. Okumura, PhD; Célia Helena C. Boyadjian, BA; Sabine Eggers, PhD
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Abstract
Auditory exostoses are bone anomalies located on the floor of the external auditory canal. They frequently develop in individuals who participate in water sports and other aquatic activities. Their etiology is probably multifactorial; development seems to be triggered by regular exposure to cold water, as well as to low air temperatures and/or cold winds. The presence of auditory exostoses has been recorded in human skull fossils that date back approximately 250,000 years. We conducted a study of auditory exostoses in 621 skulls of adult humans who had been part of a marine-dependent population that lived on the Brazilian coast between 5,400 and 800 years ago. The overall frequency of exostoses was 22%, but there was a great variance among different subgroups (0 to 56%). In this article, we propose some possible explanations for this variance. We also hope that our study will stimulate multidisciplinary research aimed at deciphering the intricate bony messages contained in cryptic archaeologic remains.
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