Kazue Kobari

Rendu-Osler-Weber Syndrome: case report and literature review

Hereditary Hemorrhagic Telangiectasia or Rendu-Osler-Weber Disease is a rare fibrovascular dysplasia that makes vascular walls vulnerable to trauma and rupture, causing skin and mucosa bleeding. It is of dominant autosomal inheritance, characterized by recurrent epistaxis and telangiectasia on the face, hands and oral cavity; visceral arteriovenous malformations and positive family history. Epistaxis is often the first and foremost manifestation. Its associated to arteriovenous malformations in several organs. There are possible hematologic, neurologic, pulmonary, dermatologic and gastrointestinal complications. Treatment is supportive and helps prevent complications. This study is a case report of a patient with this syndrome who came to the ENT Outpatient Ward of the Faculdade de Medicina de Marília; and we have done a bibliographic review of the diseases etiopathogenesis, clinical manifestations and clinical-surgical treatment options.

Síndrome de Rendu-Osler-Weber: relato de caso e revisão de literatura

Hereditary Hemorrhagic Telangiectasia or Rendu-Osler-Weber Disease is a rare fibrovascular dysplasia that makes vascular walls vulnerable to trauma and rupture, causing skin and mucosa bleeding. It is of dominant autosomal inheritance, characterized by recurrent epistaxis and telangiectasia on the face, hands and oral cavity; visceral arteriovenous malformations and positive family history. Epistaxis is often the first and foremost manifestation. Its associated to arteriovenous malformations in several organs. There are possible hematologic, neurologic, pulmonary, dermatologic and gastrointestinal complications. Treatment is supportive and helps prevent complications. This study is a case report of a patient with this syndrome who came to the ENT Outpatient Ward of the Faculdade de Medicina de Marilia; and we have done a bibliographic review of the diseases etiopathogenesis, clinical manifestations and clinical-surgical treatment options.

Spontaneus tonsillar hemorrhage

Spontaneous tonsillar hemorrhage is a rare event; most of these cases have been the result of infectious tonsillitis.1 There are reported cases of spontaneous tonsillar hemorrhage in medical literature associated with bacterial infection, measles virus infection, infectious mononucleosis, peritonsillar, parapharyngeal and retropharyngeal abscesses and, less frequently, vascular malformation, aneurisms or pseudoaneurisms of the carotid and superficial temporal arteries, von Willebrand’s disease and local or regional cancer. In a review of literature, Lourenço et al. found 21 cases of spontaneous tonsillar hemorrhage resulting from acute tonsillitis. Cases of spontaneous hemorrhage have been reported in peritonsillar abscesses, mostly when spontaneous drainage occurred during the pre-antibiotic era. The prevalence of hemorrhage associated with infectious mononucleosis is 3 to 6.9%; of these, 2.2% presented oropharyngeal hemorrhage. Thrombocytopenia is associated with this condition, but hemorrhage may result only due to local inflammation, necrosis and erosion of superficial tonsillar blood vessels. In measles, hemorrhagic complications are uncommon. However, there is a rare variant known as hemorrhagic measles that affects mostly immunocompromised patients. Tonsillar hemorrhage is a rare finding in von Willebrand’s disease. There are 2 cases reported in literature where tonsillar hemorrhage was the first manifestation of this disease. An explanation of the pathophysiology of this type of hemorrhage is that acute inflammation results in increased blood flow to the tonsils, secondary edema, and vascular congestion; during the local inflammatory process, superficial dilated blood vessels undergo necrosis and bleed. In the pre-antibiotic era these hemorrhages were fatal; they were commonly due to erosion of major vessels, secondary do deep abscesses. Currently, most tonsillar hemorrhages are mild and result from the bleeding of superficial peripheral blood vessels. We report the following case to discuss the etiology and clinical strategies in spontaneous tonsillar hemorrhage.

Internal auditory meatus stenosis: case report

Internal auditory meatus stenosis is defined as a loss of 3mm or more in the vertical diameter of the internal acoustic meatus, or even as a meatus smaller than 2mm. Inner ear abnormalities may occur in about 20% of the cases of patients who have sensorineural hearing loss (Figure 1). This loss may happen because of alterations in the VIII cranial nerve (vestibulococlear). In most cases, it happens as an isolated congenital manifestation, and other systemic abnormalities are rarely found. The major alteration happens due to a constriction caused by impaired bone growth, resulting in an abnormal internal acoustic meatus. The stenosis etiology may be explained as being secondary to an aplasia or hypoplasia of the vestibulocochlear nerve. The embryologic events involved in fetal growth between the 4th and the 8th weeks are crucial for bone growth, and may cause such disease. The labyrinth may be also involved, being aplastic or with a deformed or incomplete cavity. It is not uncommon to have a completely normal labyrinth, though. An acquired bone disease may also result in stenosis of the internal acoustic meatus (osteomas, osteopetrosis, Paget’s disease, and others). Clinical manifestations involve especially hypoacusis, there may also be tinnitus and vertigo in the side affected. When there is facial nerve involvement, there may be paresthesia and even paralysis. The physician should investigate the patient’s obstetric, natal and post-natal history in order to rule out malformations during this period. Otorhinolaryngological exam involves otoscopy, which is usually normal, and also tests that investigate the patency of the VIII cranial nerve’s vestibular branch (Romberg, Untemberg, heat tests, nystagmus and others). Among complementary tests, Audiometry may show a sensorineural hearing loss that varies as to the degree of hearing loss (from mild to profound), depending on the level of nerve involvement. Diagnosis of certainty is made by CT scan, which shows a narrow acoustic meatus, thus pointing to the disorder. MRI can be used in order to see the structures that involve the VIII cranial nerve, which may be aplastic. As treatment modalities, the cochlear implant offers very promising results, as well as hearing aids, which help patients recover their hearing.

Estenose do meato acústico interno: relato de caso

A estenose do meato acústico interno define-se como a perda igual ou maior que 3mm no diâmetro vertical do meato acústico interno ou ainda como um conduto com dimensões menores que 2mm. As anormalidades da orelha interna podem ocorrer em cerca de 20% dos casos de pacientes que apresentam perda auditiva sensório-neural (Figura 1). Essa perda pode apresentar-se em decorrência de alterações no VIII par craniano (vestíbulo-coclear). Na maioria dos casos ocorre como manifestação congênita isolada, sendo que outras anormalidades sistêmicas raramente são encontradas. A alteração principal decorre de uma constricção provocada pelo crescimento ósseo defeituoso, resultando em um meato acústico interno anormal. A etiologia da estenose pode ser explicada como sendo secundária a uma aplasia ou hipoplasia do nervo vestíbulo-coclear. Os eventos embriológicos envolvidos no crescimento fetal entre a 4a e 8a semanas são cruciais no aparecimento de alterações ósseas, que podem determinar a ocorrência dessa doença. O labirinto pode estar envolvido, apresentando-se aplásico ou como uma cavidade deformada ou incompleta. Não são raras, porém, as situações em que o labirinto encontra-se normal. Uma doença óssea adquirida pode também resultar em um quadro de estenose do meato acústico interno (osteomas, osteopetrose, doença de Paget, entre outras). As manifestações clínicas envolvem principalmente hipoacusia, podendo aparecer zumbido e vertigem no lado afetado. Quando há envolvimento do nervo facial, podem ocorrer manifestações parestésicas e até paralisia. Uma história com antecedentes obstétricos, natais e pós-natais deve ser realizada a fim de se descartarem malformações decorrentes desse período. O exame otorrinolaringológico envolve a otoscopia, que geralmente apresenta-se normal, além de exames que avaliam a patenticidade do ramo vestibular do VIII par (Romberg, Untemberg, provas calóricas, nistagmo entre outras). Entre os exames complementares, a Audiometria pode revelar uma perda auditiva sensório-neural que varia quanto ao grau de perda (de leve a profunda), dependendo do grau de acometimento do nervo. O diagnóstico de certeza é evidenciado pela tomografia computadorizada, que mostra o meato acústico de calibre reduzido, evidenciando assim a doença. A ressonância magnética pode ser utilizada buscando a melhor visualização das estruturas que envolvem o VIII par, o qual pode apresentar-se aplásico.

Usher's syndrome.

Usher’s syndrome is an autossomal recessive disease characterized by pigmentary retinopathy (PR) and bilateral sensorineural hypoacusis. Von Graefe and Liebreich were the first to publish a paper describing the association between PR and deafness. The incidence is 3 to 4.4 per 100,000 people. The prevalence is 3% to 6% among auditory impaired people.4 It may be subdivided into four types of which the type II is the mildest form. Patients present with slowly progressive moderate bilateral sensorineural dysacusis that predominantly affects high frequencies; there is preservation of vestibular function. PR begins in adolescents or in young adults.1 The aim of this study was to describe and analyze the clinical presentation of Usher’s syndrome and to compare these findings with the current literature. We described a clinical case of a 33-year-old patient that presented with the type II of Usher’s syndrome. The patient signed a free informed consent form before participating in the study, according to the Resolution 196/96 CNS/MS.