Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the carotid body (CB), a chemoreceptive organ that senses oxygen levels in the blood. Analysis of families carrying the PGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23. SDHD encodes a mitochondrial respiratory chain protein-the small subunit of cytochrome b in succinate-ubiquinone oxidoreductase (cybS). In contrast to expectations based on the inheritance pattern of PGL, the SDHD gene showed no evidence of imprinting. These findings indicate that mitochondria play an important role in the pathogenesis of certain tumors and that cybS plays a role in normal CB physiology.

111Indium pentetreotide scan detection of familial paragangliomas.

Approximately 10% of head and neck paragangliomas are familial. Magnetic resonance imaging (MRI) is reported to be the best method for screening these families. 111Indium pentetreotide (Octreoscan) scintigraphy has been shown to be a sensitive indicator of neural crest tumors such as paragangliomas. Early diagnosis and treatment of familial paragangliomas (FP) would decrease the morbidity of tumor excision. Patients from two kindred with FP were scanned 24 hours after intravenous injection with approximately 6 millicuries of 111Indium pentetreotide. The entire body was imaged. Areas of increased uptake were further imaged with MRI. Altogether, five patients had positive 111Indium pentetreotide scans. Two unsuspected glomus tympanicums and bilateral carotid body tumors were identified. Three people tested had no abnormal uptake. There were no untoward reactions to the nuclide. 111Indium pentetreotide scanning is a safe, noninvasive method for early diagnosis of FP and is useful in detecting multicentric lesions. Patients suspect for FP are undergoing 111Indium pentetreotide imaging and followed up with MRI of the involved site if positive.

Fluoroscopically placed percutaneous gastrostomies in the head and neck patient.

OBJECTIVE: At our institution, percutaneous gastrostomy tubes have been inserted under fluoroscopic guidance (fluoroscopic cutaneous gastrostomy [FPG]), thereby avoiding the need to traverse the pharynx and esophagus with a large-bore esophagoscope. For this reason, placement in the postoperative patient does not jeopardize the surgical reconstruction. METHODS: Thirty-five patients underwent percutaneous gastrostomy placement under fluoroscopic guidance. These included 12 patients whose cervical esophagus could not be entered safely because of a lesion in the head neck, 11 patients who had recently undergone resection of a head and neck cancer with pharyngeal reconstruction where traditional percutaneous enteral gastrostomy (PEG) placement was contraindicated, and two patients with postoperative fistulae. RESULTS: Thirty-four of 35 patients underwent successful gastrostomy or gastrojejunostomy placement. One patient had an intrathoracic position of the stomach, and one patient required repeat placement because the tube dislodged 5 days after insertion. No tube occluded. CONCLUSIONS: Percutaneous gastrostomy under fluoroscopic guidance (FPG) is an effective, safe method for access for prolonged enteral feeding of the patient whose cervical esophagus cannot be accessed for a variety of reasons. It also allows the safe placement of a gastrostomy catheter when the patient's postoperative course becomes complicated and prolonged enteral nutrition is required.

Carcinoma in situ of the glottic larynx.

Carcinoma in situ (CIS) is part of the histopathologic spectrum of laryngeal disorders where invasive squamous cell carcinoma is the endpoint of cellular disarray. Few reports consider prognostic indicators that predict which lesions become invasive. Forty-one patients with CIS of the glottic larynx were analyzed for risk factors that would predict invasive cancer. Anterior commissure involvement by CIS resulted in 92% conversion to invasive squamous cell cancer compared to 17% of lesions limited to the mobile fold. Epidermal growth factor receptors were also analyzed and were found not to be helpful in predicting invasion. Lesions of the mobile fold should be removed endoscopically and the patient should be observed closely for recurrence. Anterior commissure involvement that is inaccessible to complete laser ablation should be radiated, and the patient should be observed carefully.

Traumatic retropharyngeal hematoma.

The development of a retropharyngeal hematoma following a whiplash injury is a rare occurrence. The potential for airway compression necessitates rapid assessment and treatment. An 80-year-old man who had been receiving long-term aspirin therapy sustained a retropharyngeal hematoma following a motor vehicle accident. Management consisted of tracheostomy, neck exploration, and evacuation and drainage of the hematoma. To the best of our knowledge, there are less than 20 citations of traumatic retropharyngeal hematoma in the English literature. Retropharyngeal hematoma has been associated with cervical extension/flexion injuries, anticoagulation therapy, great-vessel trauma, and foreign body ingestion.

Unusual presentations of lymphangioma.

L ymphangioma is a rare but potentially life-threatening disease, particularly in children. Three unusual cases of lymphangioma located in the infratemporal fossa, submaxillary gland, and cervicomediastinal regions are presented. These unusual sites illustrate that lymphangiomas may be found at sites distant from the locations of the embryological lymph sacs. The importance of radiological examination is emphasized. Although there are many modes of therapy for this disease, complete surgical excision when possible is advocated. The literature regarding the embryology, presentation, clinical workup, and current modes of therapy for lymphangioma is reviewed.

Unifocal Langerhans' cell histiocytosis (eosinophilic granuloma) of the petrous apex.

Eosinophilic granuloma is a localized form of histiocytosis X, or Langerhans' cell histiocytosis, a benign lesion of proliferating Langerhans' cells. It is the least severe of the histiocytosis syndromes, and is characterized by lytic lesions of one or more bones. Temporal bone lesions usually occur in association with multifocal disease; however, isolated lesions may occur in either the mastoid bone alone, or in the entire temporal bone, without disease elsewhere in the body. We present the first case (to our knowledge) of eosinophilic granuloma, or unifocal Langerhans' cell histiocytosis, limited to the petrous apex. The patient, an 8-year-old girl, presented with facial nerve paralysis. Because of delay in definitive diagnosis, the disease extended beyond its original boundaries and resulted in complete destruction of the temporal bone. We will also review Langerhans' cell histiocytosis, with attention to its involvement of the temporal bone.

Atypical presentation of stroke in a diabetic hemodialysis patient.

Cerebrovascular disease is a major cause of death in patients with end-stage renal disease, particularly in those with diabetes mellitus. Cardiac disease frequently presents itself atypically in diabetic patients. This awareness has led to earlier detection and treatment of cardiac disease in diabetic patients. Whether cerebrovascular disease may also present itself in a highly atypical fashion in the diabetic patient with end-stage renal disease has never been addressed. We report the case of a diabetic hemodialysis patient who had an extremely unusual manifestation of stroke. A 67-year-old diabetic hemodialysis patient had marked distress secondary to the sudden onset of a foreign body sensation in the oropharynx. Results of a laryngoscopy were negative; x-rays of the neck and computerized tomography of the head and neck showed no abnormalities. Neurologic evaluation revealed an inability to detect oropharyngeal stimuli and an absent gag reflex but no other deficits. Magnetic resonance imaging of the brain revealed an infarction in the left corona radiata that extended to the thalamocapsular region and external capsule, and a lacunar infarct in the right pons. Cerebrovascular disease in the diabetic patient with end-stage renal disease may present itself atypically, and we suggest that cerebrovascular disease in these patients merits the same level of suspicion as cardiac disease.

Laser endoscopic treatment of laryngoceles and laryngeal cysts.

The laryngocele and saccular cyst are uncommon anomalies of the larynx. Two patients, one with an internal laryngocele and one with a saccular cyst, were successfully treated by endoscopic laser marsupialization of their lesions. Since neither patient was found to be a suitable candidate for prolonged general anesthesia, the patients did not require a tracheotomy and were discharged the day after surgery. Both patients are doing well, with remarkable improvement in their voices persisting in their three year follow-up. The signs, symptoms, diagnosis, treatment, and indications for endoscopic laser treatment of internal laryngoceles and saccular cysts are discussed. Laser marsupialization of internal laryngoceles appears to be an acceptable mode of treatment.

Repair of nasal septal perforations with tragal cartilage and perichondrium grafts.

Indications for repair of nasal septum perforations include excessive crusting, recurrent bleeding, whistling, and pain. Large subtotal perforations usually are less symptomatic, but smaller defects (less than 1 cm) may need repair. Tragal cartilage with perichondrium autograft was used to repair these perforations. After the septal defect was debrided, this free graft was harvested and used to fill the defect. This technique was attempted in ten patients with septal perforations, none secondary to systemic illnesses. Nine of these patients had successful closure of their perforations.

A comparison of radiation-induced and presbylaryngeal dysphonia.

OBJECTIVE: The goal of this study was to assess voice after radiotherapy compared with patients with presbylaryngeal dysphonia. STUDY DESIGN AND SETTING: Prospective assessment of 20 patients aged 60+ years who remained free of disease longer than 1 year after radiotherapy for T1 squamous cell carcinoma and retrospective review of 46 patients aged 60+ with presbylaryngeal dysphonia, conducted at a tertiary care, academic hospital. Assessment data included videostroboscopy, spectrography, voice range profile, and Voice Handicap Index. RESULTS: Eighty percent of the radiotherapy patients reported a voice disorder. Acoustic data and functional measures reflected similar limitations and abnormalities for both groups. A high incidence of glottal gap in all patients may have been associated with increased mucosal stiffness in the radiotherapy group and vocal fold atrophy in the presbylaryngeal group. CONCLUSION: Patient perception and functional outcome of voice were similar for both groups, despite differences in etiology of abnormal vocal fold vibratory behavior. SIGNIFICANCE: Radiotherapy in older individuals may yield dysphonia that is no greater than that caused by normal aging.

The external approach for submucosal lesions of the larynx.

OBJECTIVE: The surgical excision of benign submucosal lesions of the larynx can be performed using a variety of techniques including direct laryngoscopy and external approaches. We propose that small submucosal lesions of the larynx can be removed via the external approach without a tracheotomy. STUDY DESIGN: Retrospective chart review. SETTING: Six patients at The Long Island Jewish Medical Center and at the New York University School of Medicine underwent an external approach for the removal of benign submucosal laryngeal lesions without tracheotomies. Lesions included a mixed laryngopyocele, an internal laryngopyocele, a mixed laryngocele, a paraganglioma, a neurilemmoma and a lymphoma. Follow-up ranged from 1 to 9 years. RESULTS: All patients were female with an average age of 72. No patient required a tracheotomy. One patient remained intubated for 24 hours postoperatively to ensure an adequate airway. Mild dysphagia was noted in all patients, but it was short-lived and did not require alternate methods of alimentation. There have been no recurrences of disease. CONCLUSION: The external approach without tracheotomy allows for good exposure with minimal functional disability for the removal of benign submucosal lesions of the larynx.

Head and neck squamous cell carcinomas associated with human papillomaviruses and an increased incidence of cervical pathology.

Human papillomaviruses (HPVs) have been identified in benign and cancerous epithelial lesions of the female genital tract. They have also been identified in papillomata and cancers of the upper aerodigestive tract. This study investigates the hypothesis that lesions of the cervicovaginal area are more common in women with cancers of the head and neck region. The presence of HPV in lesions of both regions is examined. Seven female patients with cancer of the upper aerodigestive tract had DNA analysis of their carcinoma specimens. HPV type 16 was found in two of the seven (28%). Fourteen female patients with upper aerodigestive tract cancers had Papanicolaou smears to search for cytologic evidence of HPV infection, and cervicovaginal lavages to analyze DNA from exfoliated cervical cells. Five of thirteen (38%) Papanicolaou smears revealed koilocytotic atypia and three of these patients had HPV DNA types 16 or 18 identified in the cervical lavage. The incidence of cervical atypia noted is 13-fold greater than average. One patient had HPV type 16 in both her supraglottic cancer and in her cervicovaginal lavage. Evidence of HPV infection at two separate anatomic sites suggests a systemic susceptibility to HPV infection.

Hemangioma of the zygomatic bone.

Bony hemangiomas of the zygomatic bone are rare. This report represents the tenth citing in the literature. The most common signs and symptoms include swelling and pain or tenderness. Diagnosis can be made by plain radiographic studies followed by CT scanning or MRI. The treatment of choice is surgical excision with a rim of normal bone around the tumor. Malignant degeneration has not been reported unless radiotherapy had been used.

Primary salivary gland amyloidosis causing sicca syndrome.

Sicca syndrome (SS), consisting of xerostomia and xerophthalmia, may be caused by various disease processes. We present a unique case of SS secondary to primary amyloidosis. Amyloidosis is a rare but definite cause of SS and should be included in the differential diagnosis of any patient who presents with sicca symptoms. A literature review comparing amyloidotic patients with SS and patients with amyloidosis only demonstrates that both of these groups of patients present similarly with regard to symptoms. However, the majority of patients with SS present with sicca symptoms initially in addition to symptoms of amyloidosis. These SS patients also present with proteinuria and negative serology test results. Therefore, patients presenting with sicca symptoms, proteinuria, and negative serologic findings should be suspect for amyloidosis. The importance of distinguishing the diagnosis of Sjögren's syndrome from SS in these patients cannot be overemphasized. There is a significantly higher incidence of developing a lymphoma in Sjögren's syndrome patients. This has important implications for the head and neck surgeon treating these patients.

Osteosarcoma of the larynx.

About 11,600 cases of laryngeal cancer were reported in the United States in 1995, accounting for 1% of all reported cancers. Fewer than 1% of laryngeal cancers are sarcomas, osteosarcoma being the rarest type. Twelve cases of laryngeal osteosarcoma have been cited in the literature. A 47-year-old man presented with hoarseness following a benign vocal polypectomy. The entire larynx appeared swollen, although both vocal folds moved well. Biopsies did not reveal pathologic tissue. Computed tomographic imaging revealed a destructive, expansile lesion of the thyroid cartilage. A computed tomography-guided biopsy of this cartilage revealed a high-grade sarcoma. Laryngeal osteosarcoma was diagnosed following total laryngectomy. Laryngeal osteosarcoma is a highly malignant neoplasm with early hematogenous spread. Survival statistics for peripheral osteosarcoma are poor. Limited experience reveals that a combination of surgery and radiotherapy with adjuvant chemotherapy can offer some palliation. The literature and published cases of laryngeal osteosarcoma are reviewed.

Head and neck paragangliomas: an overview.

Paragangliomas of the head and neck are unique tumors. Their pathology, tissue of origin, location, genetics, potential for bio-chemical activity, multicentricity, and growth pattern are unusual compared with more common head and neck tumors. Because these tumors are widespread and can appear in the ear, neck, larynx, nose, orbit, and chest, they cross subspecialties of otolaryngology.

Laryngeal and sinonasal paragangliomas.

Laryngeal paragangliomas are classified as supraglottic and infraglottic. This article defines each type of paraganglioma, discusses the clinical features and diagnoses, and covers the surgical management. This article also addresses sinonasal paragangliomas, including their clinical features, diagnosis, and treatment.

Head and neck paragangliomas: physiology and biochemistry.

Paragangliomas of the head and neck are derivatives of neural crest cells, comprising part of the diffuse neuroendocrine system. Indeed, paragangliomas encompass a unique subset of tumors of the head and neck. Their biochemistry and physiology are similar to other neuroendocrine tumors unlike tumors based on location. This article discusses their distinct biologic attributes.

Post-tonsillectomy hemorrhage: an assessment of risk factors.

Hemorrhage is the most frequent complication of tonsillectomy and is responsible for the majority of post-tonsillectomy fatalities. The incidence of this hemorrhage has been reported to be as high as 20% [6]. Despite continued efforts to reduce this problem, it remains a persistent risk. The charts of 1138 patients who underwent tonsillectomy with or without adenoidectomy from 7-1-89 to 6-30-93 were reviewed. Post-tonsillectomy hemorrhage occurred in 36 patients (3%). Preoperative, intraoperative and postoperative risk factors were assessed. Postoperative bleeding occurred more often in older patients (69% over age 11 years). Seventy-five per cent of these patients were operated on for chronic tonsillitis as compared to 11% operated on for upper airway obstruction. The majority of these patients presented after postoperative day 1 (83%). Four patients required blood transfusions. Postoperative hemorrhage occurred in 14% of patients with elevated postoperative mean arterial pressures. Intraoperative blood loss that exceeded 50 cm3 was also a significant risk factor for post-tonsillectomy hemorrhage. It is concluded that older age, a history of chronic tonsillitis, excessive intraoperative blood loss and elevated postoperative mean arterial pressure are significant risk factors for post-tonsillectomy hemorrhage. An awareness of these risk factors can help identify patients with potential to bleed postoperatively.