Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss.

OBJECTIVES: To evaluate temporal bone CT findings in GJB2-related deafness (DFNB1) hearing loss and non-DFNB1 hearing loss children. STUDY DESIGN: Case-control series. SUBJECTS AND METHODS: Children with nonsyndromic hearing loss diagnosed as DFNB1 or non-DFNB1 after screening GJB2 allele variants and the large GJB6 deletion. Temporal bone CT images compared in a cohort of nine DFNB1 children with 10 non-DFNB1 children. Visual criteria and absolute measurements were compared against established normative values. RESULTS: Visual inspection failed to identify two patients with abnormalities identified by using absolute measurements. Only one of nine DFNB1 children had an ear anomaly versus seven of 10 non-DFNB1 (odds ratio 16.33; 95% CI, 1.35, 197.78; P = 0.050). The non-DFNB1 group had a mean vestibule width that was significantly larger, and a mean lateral semicircular canal island width and vestibular aqueduct that were significantly smaller than the DFNB1 group. CONCLUSIONS: Visual inspection of temporal bone CT images alone may not identify all anomalies and should be used with absolute CT measurements. Abnormal temporal bone CT findings are significantly less likely in children with DFNB1 compared with non-DFNB1 children despite similar age and degree of hearing loss.

Facial cutaneous mucormycosis in a full-term infant.

Mucormycosis is a rare and potentially fatal fungal infection that most commonly affects the immunocompromised population. Although originally described by Paltauf in 1885 (D. G. Finn as cited by Vessely et al(1)((p573)) and A. M. Marchevsky as cited by Oh and Notrica(2)((p1607))), it was not until 1955 that Harris (as cited by Vessely et al(1)((p573))) reported the first case of a mucormycosis survivor. In recent years, the number of immunosuppressed patients has increased partly owing to the widespread implementation of organ transplantation and the increasing prevalence of human immunodeficiency virus infection. Consequently, the incidence of mucormycosis has also increased, especially in pediatric patients. In the setting of immunocompromise, a high index of suspicion is required to accurately diagnose and treat this potentially lethal infection in a timely fashion. To our knowledge, we report the first case of facial cutaneous mucormycosis in an infant, who also represents the first reported neonate or infant to survive a cutaneous mucormycosis infection of the head and neck.

Management of advanced laryngeal and hypopharyngeal plexiform neurofibroma in adults.

Laryngeal neurofibromas are rare. The plexiform subtype is less common and often presents during childhood in association with neurofibromatosis type I. Because it is unencapsulated and more aggressive, plexiform neurofibroma presents a management dilemma. Imaging, particularly magnetic resonance imaging, can aid in diagnosing neurofibroma, differentiating the nonplexiform and plexiform subtypes, and planning the subsequent operative approach. The importance of conservative surgery to relieve symptoms, but preserve laryngopharyngeal function, and close follow-up are stressed. We report 2 adult cases of plexiform neurofibroma involving the larynx and hypopharynx and discuss the controversies in management.

The benign lymphoepithelial cyst and a classification system for lymphocytic parotid gland enlargement in the pediatric HIV population.

OBJECTIVES/HYPOTHESIS: The objectives of this study are to present a series of parotid gland benign lymphoepithelial cysts (BLEC) in HIV-positive children and to propose a three-tiered classification system for HIV-associated lymphocytic parotid gland enlargement. STUDY DESIGN: The authors conducted a retrospective case series and literature review. METHODS: The authors conducted a retrospective chart review of four pediatric patients with HIV-associated parotid gland BLEC who presented to a tertiary care university medical center. RESULTS: Four pediatric HIV-positive patients (four girls; age range, 7-17 years [mean age, 12.8 years]) were diagnosed with parotid gland BLEC. Two patients presented with acute parotitis and the others presented with asymptomatic enlargement of the parotid glands. Three patients had bilateral parotid gland BLEC. The other patient demonstrated persistent generalized lymphadenopathy (PGL) of the intraparotid and cervical lymph nodes and early BLEC limited to the left parotid gland. One patient also displayed parotid gland microcalcifications and cystic changes in the adenoids, neither of which have been described previously in the setting of HIV-associated BLEC. Computed tomography was performed on all patients, and one patient underwent fine needle aspiration to confirm the diagnosis. All patients opted for observation and antiretroviral medication therapy as long-term treatment. Based on these findings and a review of the literature, we propose a three-tiered classification system for lymphocytic parotid gland enlargement in the HIV population: 1) PGL, 2) benign lymphoepithelial lesions (BLEL), and 3) BLEC. CONCLUSIONS: This series equals the largest pediatric series of HIV-associated parotid gland BLEC in the English literature. One patient in our series also demonstrated PGL; there were no cases of BLEL. A classification system based on morphology is proposed to help resolve the confusion in terminology used to describe this entity. Most pediatric HIV-infected patients with parotid gland BLEC can be treated with observation and antiretroviral medication therapy. For others, who are symptomatic or more concerned about their cosmetic appearance, sclerotherapy may offer a reasonable option. Radiation therapy and surgery should be reserved for select cases.

Surgical outcomes and safety of transnasal endoscopic resection for anterior skull tumors.

OBJECTIVE: To report the surgical outcomes and safety of transnasal endoscopic resection (TER) for anterior skull base (ASB) tumors. STUDY DESIGN AND SETTING: A retrospective chart review to identify patients undergoing TER for ASB tumors at a tertiary care medical center between September 1997 and June 2006. RESULTS: Nineteen patients underwent TER for ASB tumors without open craniotomy. There were 17 malignant and two benign lesions. Olfactory neuroblastoma was the most common pathology, occurring in 53 percent of patients. One patient recurred locally, resulting in an overall local control rate of 94.7 percent for all neoplasms and 94.1 percent for malignant disease. It should be noted that the tumor control rate may be premature given the small sample size and limited follow-up. Overall, there were 16 complications, but only two of these, an orbital hematoma and a frontal lobe abscess, were considered major complications directly attributable to surgery. CONCLUSIONS: TER for ASB tumors appears to be safe in properly selected patients. In light of the small sample size and limited follow-up, the major complication rate directly attributable to surgery was 11 percent, and the overall local control rate was 95 percent. A larger multi-institutional series with longer follow-up is warranted.

Mucoepidermoid carcinoma of the external auditory canal (EAC).

We present the third case of mucoepidermoid carcinoma of the external auditory canal (EAC) in the English literature, and discuss the management of this lesion. The patient underwent a wide local resection, superficial parotidectomy, and selective neck dissection. Although intraoperative frozen section margins were negative, permanent histopathologic examination demonstrated tumor in the medial margin, and the tumor was upgraded to a high-grade mucoepidermoid carcinoma. The patient returned to the operating room for a wider local resection, and EAC reconstruction with a temporoparietal pedicled flap and split thickness skin graft. All margins were negative on final histopathologic examination. Radiotherapy was deferred in the event of a recurrence. The patient is currently disease-free 29 months after the final excision. Most authors advocate an aggressive surgical approach, which includes a form of a temporal bone resection, for the treatment of EAC carcinoma. Although this may be warranted in cases of squamous cell carcinoma, mucoepidermoid carcinoma of the EAC may be amenable to a conservative step-by-step approach for local control with less postoperative morbidity. Given the difficulty in detecting mucoepidermoid carcinoma in surgical margins by frozen section analysis, patients should be informed of the possibility of further surgery (re-resection) when a conservative approach is used.

Microdebriders used in functional endoscopic sinus surgery: secondary analysis and validation of a new tissue model.

OBJECTIVES/HYPOTHESIS: To validate a previously reported in vitro tissue model for microdebrider comparison and determine which microdebrider, tissue type, blade type, and suction strength is most efficient. Specifically, the goal of the secondary analysis is to expand on the results of the preliminary analysis by increasing the sample size, and introduce an aspiration efficiency score (AES) to facilitate microdebrider comparison. STUDY DESIGN: Prospective randomized comparison. METHODS: A prospective randomized comparison of the Diego Powered Dissector and XPS 3000 Powered ENT System was conducted using a soft tissue and a firm tissue model. In addition to evaluating tissue aspiration with straight and angled blades, clogging rates and clearance times were measured. Both standard wall suction and liposuction were used. Basic statistical analysis, a one-way analysis of variance, and a post hoc Student's t test were performed to compare outcomes. RESULTS: With standard wall suction, the microdebriders were equivalent for the overall microdebrider comparison. For the ''head to head'' comparison with standard wall suction, the devices were also equivalent when using the straight blades, but the XPS 3000 aspirated more tissue when using the angled blades. With liposuction, the XPS 3000 and liposuction independently aspirated more tissue but clogged more often compared with the Diego PD and regular suction. The aspiration efficiency of soft tissue (oysters) and straight blades was superior compared with firm tissue (scallops) and angled blades. For the ''head to head'' comparison with liposuction, the XPS 3000 aspirated more tissue regardless of tissue type, but the Diego PD clogged less with firm tissue (scallops). Overall, the AES favored the XPS 3000, soft tissue (oysters), straight blades, and liposuction. CONCLUSION: Our tissue model represents a reliable and reproducible means of microdebrider comparison. Statistically significant differences between the Diego PD and XPS 3000, as well as between tissue types, blade types, and suction strengths, are reported. Using these results, microdebrider manufacturers can adopt similar tissue models, expand on the current AES, and include other commercially available microdebrider devices to test and report product performance to the consumer. Perhaps an optimal open to closed ratio or liposuction pressure can be determined that yields the greatest tissue aspiration with the fewest number of clogs.

Tissue model and preliminary analysis of microdebriders used in functional endoscopic sinus surgery.

OBJECTIVE: To develop a standardized in vitro tissue model for microdebrider comparison, and determine which microdebrider, tissue type, blade type, and suction strength is most efficient. STUDY DESIGN AND SETTING: A prospective randomized comparison of the Diego Powered Dissector and XPS 3000 Powered ENT System was conducted using a soft-tissue and a firm-tissue model. In addition to evaluating tissue aspiration with straight and angled blades, clogging rates and clearance times were measured. Both standard wall suction and liposuction were used. Basic statistical analysis and a one-way analysis of variance using confidence intervals were performed to compare outcomes. RESULTS: The aspiration of soft tissue was statistically superior to and demonstrated less clogging compared to the aspiration of firm tissue. For the "head-to-head" comparison, the XPS 3000 was statistically superior for aspirating soft tissue. When liposuction was excluded, the devices were essentially equivalent. Several notable trends that were not statistically significant were also observed. The aspiration efficiency of straight blades appeared to be superior compared to angled blades. The XPS 3000 and liposuction independently seemed to aspirate more tissue than the Diego Powered Dissector and regular suction, but at the expense of increased clogging. Finally, the Diego Powered Dissector showed a trend toward aspirating more firm tissue. CONCLUSION: Our tissue model represents a reliable and reproducible means of microdebrider comparison. A secondary analysis with a larger sample size is warranted to further validate the tissue model, to improve the power of the statistically significant results, and to better delineate the trends that were observed in the current study.

Giant cell tumor of the larynx: a case of malignant sarcomatous transformation.

We report what is to the best of our knowledge the first case of malignant transformation of a giant cell tumor of the larynx. The patient, a 34-year-old man, presented to our tertiary care university teaching hospital where he underwent hemilaryngopharyngectomy with radial forearm free flap reconstruction and 11 of 15 cycles of chemotherapy. He remained disease-free at approximately 6 years and 4 months of follow-up. The patient is decannulated and continues to have a good voice with excellent quality of life to this day. We discuss the patient's clinical course and subsequent treatment within the context of a review of the current literature regarding this disease entity. Our experience demonstrates that giant cell tumor of the larynx may present as a malignant neoplasm without adversely affecting the patient's prognosis when treated aggressively with surgical resection and adjunct chemotherapy.

Periorbital emphysema as a complication of functional endoscopic sinus surgery.

Clinically significant periorbital emphysema is an unusual complication of functional endoscopic sinus surgery (FESS). In most instances, it resolves spontaneously without any serious sequelae. Rarely, it can progress rapidly and become severe enough to cause irreversible blindness. We present and discuss the management of 2 cases of periorbital emphysema after FESS.

Undifferentiated pleomorphic sarcoma of the parotid gland: a rare pediatric case.

BACKGROUND: Undifferentiated pleomorphic sarcoma, or malignant fibrous histiocytoma (MFH) of the head and neck is an uncommon malignancy that is exceedingly rare in the pediatric population. Although MFH was once considered the most common soft tissue sarcoma in adults, recently authors have questioned its existence as a distinct pathologic entity. METHODS: In light of this debate, we present a case of MFH with giant cells involving the parotid gland, and we review its pathology. RESULTS: We describe a 6-year-old male with parotid gland MFH. Diagnosis was fraught with difficulty, typical of this disease. He was treated with a combination of chemotherapy and radiation therapy with a good initial response. CONCLUSION: The classification of MFH has been recently debated. Nevertheless, our case is the second report of pediatric MFH involving the parotid gland. Surgical resection is the preferred treatment, but combined chemoradiation may be necessary in the head and neck region.

Cutaneous zygomycosis associated with urate panniculitis.

Cutaneous zygomycosis is being increasingly recognized as a serious and life-threatening infection in debilitated and immunosuppressed patients, including transplant patients. The organisms are morphologically distinct but difficult to grow in cultures from clinical samples. We report a case of cutaneous zygomycosis in a neonatal multi-visceral organ transplant patient, with subcutaneous panniculitis accompanied by extensive local acicular uric acid crystal deposition. Although the patient's serum uric acid was subsequently found to be in the normal range, transient hyperuricemia could not be excluded. Because we use a microwave-based processing system avoiding aqueous solutions, the crystals were maintained in the tissue sections and were shown by various methods to consist of monosodium urate. Early diagnosis combined with extensive debridement and prompt antifungal therapy resulted in a successful outcome. We have coined the term "urate panniculitis" to describe this phenomenon.

Bleeding diathesis in amyloidosis with renal insufficiency associated with Crohn's disease: response to desmopressin.

A 53-yr-old man with a 33-yr history of Crohn's ileocolitis, complicated by arthritis and cologastric fistulization, was diagnosed with GI amyloidosis at the time of proctocolectomy. He had marked proteinuria (4.2 g/24 h) and moderate renal insufficiency (BUN of 35 mg/dl and serum creatinine of 2.5 mg/dl). During the operation, he had severe bleeding that required 11 U of blood. Postoperatively, desmopressin was administered, which resulted in a prompt cessation of bleeding. This case demonstrates the efficacy of desmopressin in reversing the bleeding diathesis in surgical patients with amyloidosis complicated by renal insufficiency.