Otolaryngologic Manifestations Research Articles

Otolaryngologic manifestations of mitochondrial cytopathies

Introduction Primary mitochondrial cytopathies include more than 40 different identified diseases that have varied genetic features. The common factor among these diseases is that the mitochondria are unable to effectively complete oxidative phosphorylation to generate energy. One in 5000 children per year in the United Sates are born with mitochondrial disease. The term primary mitochondrial disease refers specifically to mitochondrial dysfunction caused by genetic mutations directly impacting the composition and function of the respiratory chain. These defects impair mitochondrial oxidative phosphorylation, the process by which oxidation of the end products of metabolism in the electron transport chain is coupled to phosphorylation of adenosine diphosphate to produce energy in the form of adenosine triphosphate. The effects of mitochondrial disease can be quite varied, and the severity of the defect may be great or small. We sought to find the common otolaryngologic manifestations of this disease, to enable better treatment of the patients. We report on 41 pediatric cases of mitochondrial cytopathy diagnosed from 2001 to 2006 at our Center for Child Neurology (Cleveland, OH). We performed a retrospective review after obtaining institutional review board approval. Patients who had otologic manifestations including recurrent otitis media and hearing loss comprise 14.6%. Patients who were noted to have obstructive sleep apnea requiring adenotonsillectomy comprise 9.8%. Patients who had dysphagia comprise 22%; however, all of these patients were noted to have some developmental delay and seizures. It was also noted that there was a 17% incidence of gastroesophageal reflux, and 36.6% incidence of seizures in our patient population. In conclusion, mitochondrial cytopathies exhibit extreme clinical variability. This variability greatly increases the burden for affected families and impairs our ability to understand the pathogenesis of these disorders. In otolaryngologic examination, children appear to have recurrent otitis, dysphagia, and sleep apnea, at a much higher incidence than the general pediatric population. A comprehensive management approach to these patients including pediatric neurology, genetics, speech pathology, otolaryngology, and audiology is essential to their care.

Langerhans' cell histiocytosis of the temporal bone: successful treatment of sensorineural hearing loss with low-dose radiotherapy

To present the successful treatment of sensorineural hearing loss secondary to Langerhans' cell histiocytosis with low-dose radiotherapy, and also the disparity between radiological resolution of Langerhans' cell histiocytosis lesions and lack of sensorineural hearing loss improvement, accompanied by a review of the literature on otolaryngological manifestations and management of Langerhans' cell histiocytosis. Langerhans' cell histiocytosis is a multisystem disease which frequently causes osseous lesions in the temporal bones. Hearing loss is usually conductive but may be sensorineural with lesions of the petrous temporal bone. We present a case of sensorineural hearing loss secondary to Langerhans' cell histiocytosis affecting the labyrinth and internal auditory meatus, which resolved following radiotherapy. Contralateral sensorineural hearing loss in the same patient, previously treated with chemotherapy, did not resolve despite radiological resolution of the temporal bone lesions. We suggest that timely radiotherapy for treatment of sensorineural hearing loss secondary to Langerhans' cell histiocytosis is an appropriate treatment option.

A 32‐year‐old nursing student with hoarseness and dysphagia to solids

A 32‐year‐old nursing student with hoarseness and dysphagia to solids

The Role of Esophageal pH-metri Test on Gastro-Esophageal Reflux Disease Diagnosis

Gastro-esophageal reflux disease is a pathological condition of esophagus which is caused by gastric content reflux into esophagus. There is an increased prevalence of gastro-esophageal reflux disease. The roles of esophageal pH-metry in clinical application include looking for abnormal acid exposure on esophagus with no abnormality found in endoscopy; evaluating patients following the anti-reflux surgery who are being suspected for abnormal esophageal reflux; evaluating patients with normal endoscopic result but still having refractory reflux symptoms against proton pump inhibitor medication; detecting refractory reflux in patients chest pain following the heart evaluation; evaluating patients with otolaryngologic manifestations (laryngitis, pharyngitis, chronic cough) of the esophageal reflux disease after therapeutic failure of 4-weeks proton pump inhibitor treatment; and looking for correlation between adult onset gastro-esophageal reflux disease and non-allergic asthma. Keywords : gastro-esophageal reflux disease, esophagus pH-metry, symptoms-reflux correlation

Review article: the laryngological manifestations of reflux disease; why the scepticism?

Despite increasing clinical and experimental evidence of its existence, otolaryngological manifestations of reflux disease remain controversial, concerning diagnosis as well as treatment. Proper understanding of laryngopharyngeal reflux disease (LPRD). Review of literature. Scepticism concerning LPRD is based upon differences between gastro-oesophageal reflux disease and LPRD; lack of specificity and sensitivity of diagnostic tests to confirm LPRD; non-specificity of laryngological symptoms, which are difficult to distinguish from other causes of upper respiratory tract inflammation; non-specificity of laryngological signs in laryngoscopy, with high intra- and inter-observer variability in evaluation; diagnosis of LPRD is essentially only based on a combination of diagnostic signs and symptoms, which cannot be attributed to other pathology; slow, or sometimes lack of, response of LPRD symptoms to proton pump inhibitor (PPI) medication and lack of evidence concerning efficacy of PPIs in placebo-controlled trials. LPRD remains a diagnosis by exclusion and resolution of symptoms following 4-month trial of 40 mg PPI twice daily is, for all practical purposes, considered proof of the initial diagnosis. However, non-response does not exclude LPRD as PPIs have no influence on noxious non-acid components of the refluxate.

Otolaryngologic Manifestations of Achondroplasia

To describe the common otolaryngologic manifestations in patients with achondroplasia. Retrospective review. Tertiary care children's hospital. Twenty-two patients with achondroplasia, who were treated from 1994 to 2005, with a focus on otolaryngologic diagnoses. Descriptive statistics of common otolaryngologic diagnoses in patients with achondroplasia. Of the 22 patients, 15 (68%) received an otologic diagnosis, including 6 with recurrent otitis media and 5 with otitis media with effusion, and 11 patients (50%) underwent an otologic procedure, with 10 undergoing tympanostomy tube insertion. Nine patients (41%) had adenotonsillar hypertrophy, 6 of whom had polysomnogram-documented obstructive sleep apnea. Seven patients underwent adenotonsillectomy (TA). Two patients had significant residual postoperative obstructive sleep apnea, and 1 patient died from acute respiratory distress syndrome following TA. All patients had preoperative neurosurgical evaluation for foramen magnum stenosis, with 11 (50%) requiring decompression. No other airway or laryngeal diagnoses were seen. Patients with achondroplasia often present with common diagnoses such as otitis media and adenotonsillar hypertrophy, and familiarity with the condition and its common otolaryngologic manifestations improves the likelihood of successful patient care.

Otolaryngological manifestations of HIV/Aids: A review

Otolaryngological manifestations of HIV/Aids: A review

Down syndrome: Common otolaryngologic manifestations

Otolaryngologic or ear, nose, and throat (ENT) problems are common in children with Down Syndrome (DS). This includes problems with chronic ear infections and chronic middle ear effusions with associated hearing loss, airway obstruction, and sleep apnea, as well as problems with chronic rhinitis and sinusitis. In addition, many of these ENT problems require surgical interventions, and there are special anesthesia considerations that need to be addressed in children with DS. These include subglottic stenosis, post-operative airway obstruction, and cervical spine concerns. As the care of children with DS has become more consistent and proactive, outcomes from the treatment of these ENT manifestations have improved. Aggressive interventions, both medical and surgical, have led to a decreased incidence of hearing loss, good control of the chronic rhinitis, and a better awareness of the incidence of sleep apnea and sleep-disordered breathing in individuals with DS. These common otolaryngologic manifestations of DS are reviewed with recommendations for ongoing care and monitoring.

Mycosis Fungoides

Systemic diseases often have varied otolaryngologic manifestations. Mycosis fungoides is a T-cell lymphoma that is often limited to cutaneous involvement but has occasional systemic spread. Careful physical examination and appropriate laboratory studies are keys to establish the diagnosis. We present a case of this unusual entity involving the oropharynx.

HIV manifestations in otolaryngology

Purpose AIDS is a fatal illness, which breaks down the body's immunity and leaves the victim vulnerable to life-threatening opportunistic infections, neurological disorders, or unusual malignancies. About 80% of patients with HIV infections present with otolaryngological symptoms. Often, the otolaryngologist is the primary physician who diagnoses the HIV infection. He should be aware and vigilant for its symptoms and unusual presentations. The aim of our study was to determine the incidence of otolaryngological manifestations, the clinical presentations, relevant diagnostic tools, management, and survival rates. Materials and methods We studied 968 patients who were diagnosed to have HIV infection at Kasturba Medical College, Mangalore, India, from January 1996 to December 2004. The incidence of otolaryngological manifestations was noted. Patients with opportunistic infections were treated by specific and symptomatic measures. Of 968 patients studied, 419 were followed up for a 5-year period. Results In our study, otolaryngological findings were noted in 79% of individuals. Oropharyngeal findings, which were the commonest, were seen in 59%, followed by cervical lymphadenopathy in 42% of patients. Oral candidiasis was the commonest oropharyngeal finding, seen in 39% of patients. Among nasal complaints, rhinosinusitis was the commonest, found in 17% of patients. Otological manifestations were seen in 20%, of which chronic suppurative otitis media was the commonest, seen in 13% of patients. Routine investigations were found to suffice for diagnosis. Of 419 patients who were followed up, the 5-year survival rate was 73%. Conclusion With the increase in the number of AIDS cases, it is important for otolaryngologists to be aware of otolaryngological manifestations. Early diagnosis and timely intervention along with appropriate antiretroviral therapy improve survival rates.

Cogan Syndrome: A Retrospective Review of 60 Patients Throughout a Half Century

To evaluate the disease manifestations and clinical course of patients affected by Cogan syndrome (a syndrome of nonsyphilitic interstitial keratitis and vestibuloauditory symptoms) at a single institution during roughly a half century. Medical records of all patients diagnosed as having Cogan syndrome at the Mayo Clinic in Rochester, Minn, and who were followed up from 1940 to 2002 were comprehensively reviewed. Otolaryngologic, ophthalmologic, and systemic manifestations of disease were analyzed. Analysis included patient demographics, presenting manifestations, delayed manifestations, laboratory testing, physical examination features, therapeutic interventions, disease course, and hearing and vision outcomes. Sixty patients were identified as having Cogan syndrome, with follow-up from 1940 to 2002. Most patients presented initially with vestibuloauditory symptoms, most commonly sudden hearing loss (50%). The most common inflammatory ophthalmologic condition noted was bilateral interstitial keratitis. Headache (40%), fever (27%), and arthralgia (35%) were the most frequently encountered systemic manifestations. Evidence of aortitis was found in 12% of patients. Complete hearing loss was eventually noted in 52% of affected patients, whereas permanent loss of any degree of vision was uncommon. Cochlear implantation outcomes were uniformly good. Death directly or indirectly attributed to the effects of Cogan syndrome was noted in 4 patients. The major disease-related morbidities were due to vestibuloauditory disease and only infrequently due to systemic manifestations such as vasculitis, with or without aortitis. Cochlear implantation has been of major benefit in modern hearing rehabilitation for this patient population. We advise caution before institution of protracted courses of high-dose corticosteroids and/or chemotherapy for patients without pronounced systemic disease or severe eye disease unmanageable by topical or periocular corticosteroids alone.

Otolaryngologic manifestations of gastro-oesophageal reflux disease in Lagos

Gastro-oesophageal reflux disease(GERD) is not an uncommon disease in Nigeria. The otolaryngologic (ORL) symptoms associated with GERD are varied. In the management of patients with ORL symptoms and disease, GERD is often not considered as a differential diagnosis The aim of this study is to identify patients with ORL complications of GERD from patients with ORL disease who have symptoms that mimic GERD using defined criteria in the light of limited diagnostic facilities. A prospective study was conducted over a two year period at Lagos University Teaching Hospital Lagos and two private Otolaryngology clinics,within Lagos, among patients who presented primarily with laryngeal and pharyngeal symptoms . They were evaluated using structured questionnaire for duration of regurgitation, heartburn ,symptoms of peptic ulcer disease, clinical examination, esophagogastro - duodenoscopy findings and outcome of laryngopharyngeal symptoms following anti-reflux therapy. A total of 92 patients were evaluated over a two year period .ORL diseases and symptoms at presentation were chronic laryngitis, chronic pharyngitis, globus pharyngeus, globus and chronic laryngitis, laryngeal carcinoma, cricopharyngeal spasm and throat hawking. History of symptoms of peptic ulcer disease and regurgitation was obtained in 47.8% and 65.2% respectively. Endoscopic findings revealed oesophageal reflux with gastroduodenits in 4.3%, Non specific gastritis in 17.4%, duodenal ulcer in 56.4%, and normal findings in 21.7%. Patients were treated medically with antacids, H2 antagonists, proton pump inhibitors and were followed up for 9-12 months. GERD was diagnosed in 4 (4.34%), 68 (73.9%) were diagnosed as non erosive reflux disease (NERD) and 20 (21.74%) with probable acid related problem that will need further evaluation . Following anti-reflux therapy 68 (73.9%) had disappearance of their laryngopharygeal symptoms for up to a year. ORL complications of GERD/NERD was seen in 72 (78.3%). GERD should be a differential diagnosis in patient with pharyngeal and laryngeal symptoms not associated with sinus disease in the presence or absence of positive peptic ulcer disease or regurgitation and the management should be multidisciplinary.

Dysautonomia rhinitis: associated otolaryngologic manifestations and characterization based on autonomic function tests

Conclusions. Dysautonomia is a multisystem disorder. Beside the nasal symptoms, some otolaryngological disorders may be explained on the basis of autonomic dysfunction. Testing of the autonomic nervous system (ANS) complements the clinical findings and provides objective measurements to substantiate the presence of ANS dysfunction. The term dysautonomia rhinitis may be used to specify this autonomic-related rhinitis.Objectives. Nonallergic, noninfectious perennial rhinitis is a heterogeneous disorder comprising several pathophysiological entities. This study was designed to objectively investigate the relation of idiopathic perennial rhinitis to ANS dysfunction.Patients and methods. This was a prospective controlled clinical study; 78 patients, carefully diagnosed as having idiopathic perennial rhinitis, were enrolled. Workshop protocol included diagnostic measures for exclusion of other causes of rhinitis and autonomic function assessment at a clinical cardiology laboratory. Results were compared with those of 20 age- and sex-matched normal control subjects.Results. In addition to their nasal symptoms, all patients reported more than one regional and multisystem complaint. Each patient had at least one autonomic function test that displayed a hypervagal response and the overall response score was as follows: 46 (59%) had hypervagal response, 32 (41%) had mixed response and none had a normal or hyperadrenergic response.

Otolaryngological manifestations of posttransplant lymphoproliferative disorder in pediatric thoracic transplant patients

To identify the otolaryngological manifestations of posttransplant lymphoproliferative disorder (PTLD) in pediatric heart and lung transplant recipients. A 14-year retrospective case series review (1990-2003) of children less than 18 years of age presenting with PTLD after receiving orthotopic heart and lung transplants at St. Louis Children's hospital (St. Louis, MO, USA). One hundred ninety seven cardiac and 246 pulmonary transplant patients were included in this review. Thirteen heart transplant patients developed PTLD with 39% (5/13) presenting in the head and neck. Thirty-two lung transplant patients developed PTLD with 25% (8/32) presenting in the head and neck. PTLD in cardiac transplants most often presented as adenotonsillar hypertrophy or cervical lymphadenopathy. The sinonasal cavity was the most common site of head and neck PTLD in pulmonary transplants patients. This study suggests that head and neck involvement is more common than currently reported in the literature. As thoracic organ transplants become more frequent in children, otolaryngologists caring for this population should maintain a high index of suspicion for any suggestive findings. Evaluation must include tissue biopsy, as histopathologic examination is required for diagnosis.

Cat-scratch disease: Otolaryngologic manifestations and management

The bacteria Bartonella henselae has been known as the principal causative agent of cat-scratch disease (CSD) since 1992. It is an important cause of infectious lymphadenopathies in the head and neck. Nevertheless, CSD often remains unrecognized in cases of cervicofacial lymph node enlargement. Between January 1997 and May 2003, we conducted a prospective clinical study including 721 patients with primarily unclear masses in the head and neck. CSD was diagnosed by serology and molecular investigations in 99 patients (13.7%; median age 33 years). Cervicofacial lymphadenopathy was the most common manifestation. Atypical manifestation of CSD including Parinaud's oculoglandular syndrome, swelling of the parotid gland and erythema nodosum were diagnosed in 8.1%, 8.1%, and 2.0% of cases, respectively. Our results demonstrate that CSD is a major cause of enlarged cervicofacial lymph nodes and should therefore be included in the differential diagnosis of lymphadenopathy in the head and neck region.

Otolaryngological manifestations of GERD: Diagnosis and management

Otolaryngological manifestations of GERD: Diagnosis and management

Ear, Nose, and Throat Manifestations of Sjögren's Syndrome: Retrospective Review of a Multidisciplinary Clinic

To assess the otolaryngologic manifestations of Sögren's syndrome (SS). A retrospective case study. The Toronto Hospital. Case note review of 196 patients evaluated in a multidisciplinary clinic for this disease. Patients were retrospectively classified according to the revised international classification. The prevalence of subjective and objective audiologic and otorhinolaryngologic abnormalities. One hundred eleven patients were diagnosed with primary and 26 with secondary SS, leaving 60 with unclassified sicca syndrome. There was minimal otologic pathology. There was a mildly increased prevalence of sensorineural deafness in secondary SS (41-60 years, 36%; 61-80 years, 70%). Approximately 50% of patients in each group complained of nasal symptoms, but only 20% had abnormal findings on rhinoscopy. Similarly, 60 to 70% in each group complained of throat symptoms, but only 20% had abnormal findings on indirect laryngoscopy. Thirty-eight percent of primary patients had parotid gland symptoms, and 25% had abnormally swollen glands, with eight subsequently diagnosed with lymphoma. No patients in the other two groups had abnormal parotid glands. SS does not appear to be associated with increased otologic or audiologic disease, except perhaps in conjunction with systemic autoimmunity. Nose and throat symptoms are common in SS, but the complications of mucosal dryness on examination are unusual (approximately 20%). Primary SS can cause serious parotid morbidity secondary to inflammation and infection. There is also a significant risk of lymphomas that often present as parotid masses, necessitating long-term follow-up.

West nile virus: A primer for the otolaryngologist

Objectives: Since recognition in the United States with a 1999 New York City epidemic, West Nile virus has enduringly migrated westward, leaving few states unaffected. Infection rates are rising at an alarming rate, doubling every year since introduction, with over 8000 cases in 2003 alone and nearly 200 deaths. Patients may present with myriad symptoms; though common to the presenting signs is a maculopapular rash that affects the face and trunk and diffuse lymphadenopathy, both of which may result in the initial consultation of the otolaryngologist. We review the clinical history of West Nile virus, its epidemiology, laboratory findings, and variable clinical presentation, with an emphasis on otolaryngologic manifestations. Methods: We did a comprehensive review of the literature over the past 50 years with an emphasis on what the present day otolaryngologist needs to know concerning West Nile virus. Clinical manifestations of the head and neck such as encephalitis, meningitis, maculopapular rash, lymphadenopathy, and dysphagia are discussed. Results: There are no articles in the otolaryngology literature discussing West Nile virus. These patients may present initially to multiple providers with diverse specialties due to multifarious initial signs and symptoms. The otolaryngologist must be educated on this quickly growing affliction and practice with a high index of suspicion. Conclusions: In this paper we describe the clinical manifestations of West Nile virus with an emphasis on the otolaryngologic manifestations. The otolaryngologist must become educated about this entity in order to facilitate preventative measures, adequately treat, and assist other providers in hopeful control and potential eradication of this infectious threat.

Otolaryngologic manifestations of scurvy

Objectives: The purpose of this case report is to describe the presentation, otolaryngologic manifestations, diagnosis, and management of scurvy, a disease process rarely seen in modern industrialized nations. Methods: Case report Results: A 77-year-old Greek woman with a 4-month history of recurrent epistaxis, ecchymosis, and chronic hyperpigmentation, presented to the Otolaryngology Department for biopsy of numerous tender intermittently bleeding gingival lesions. At presentation, she was undergoing an evaluation for anemia and rectal bleeding. Her medical history was remarkable for Graves’ disease treated with thyroidectomy, osteoporosis, chronic anemia, and multiple food sensitivities associated with pruritis, hives, and petechiae. Her diet for 2 years consisted of only red meat, bread, and olive oil. Examination revealed diffuse hyperpigmentation, purpura of the extremities, hypertrophic gingiva with multiple firm, tender, exophytic lesions. Significant results of her comprehensive work-up yielded an undetectable level of serum vitamin C, a skin biopsy with evidence of hemorrhage and hemosiderosis, and an alveolar biopsy revealing an inflamed angiomatous lesion consistent with pyogenic granuloma. Treatment with 100 mg of oral vitamin C 3 times daily resulted in complete resolution of her hyperpigmentation and gingival lesions after 6 days and improved blood vitamin C levels. Conclusion: The otolaryngologic manifestations of scurvy have not been reported in the otolaryngology literature and have been infrequently reported over the last 20–30 years. Through discussion of the complex presentation, disease manifestations, and treatment, this case report revisits a rare disease and emphasizes the need to include scurvy in the differential diagnosis of gingival and oral cavity lesions.

Otolaryngologic manifestations of PHACE syndrome

Two case reports of PHACE syndrome (posterior fossa malformations (P), hemangiomas (H), arterial anomalies (A), coarctation of the aorta and cardiac defects (C), and eye abnormalities (E)) are presented. Clinical characteristics consisted of cutaneous and airway hemangiomas, aortic coarctation, and left superior vena cava in one child and cutaneous and airway hemangiomas, sternal clefting, and supraumbilical raphe in the other child. Treatment modalities included systemic and intralesional steroids for cutaneous and airway hemangiomas, submucosal resection and laryngotracheal reconstruction for airway hemangiomas, repair of aortic coarctation, and laser treatment of cutaneous hemangiomas. PHACE syndrome poses a significant potential for airway compromise from hemangiomas, which may require multimodality treatment.