RESUMO
OBJECTIVES: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome. REPORT: This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and clinical phenotype in a case series of patients with familial Alström syndrome. Therefore, we describe 4 cases presenting a complete audiometric profile of two pairs of unrelated siblings, to provide a better understanding of this very rare disease. Additionally, the present study identified two heterozygous mutations in the ALMS1 gene. CONCLUSION: This Clinical Capsule Report highlights the importance of audiological monitoring throughout the development of patients with Alström syndrome. The two variants found were not previously reported in the literature, which expands the spectrum of ALMS1 variants in Alström syndrome.
Assuntos
Síndrome de Alstrom , Proteínas de Ciclo Celular , Mutação , Fenótipo , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome de Alstrom/genética , Proteínas de Ciclo Celular/genética , Lactente , AdultoRESUMO
Inverted papilloma is a rare sinonasal neoplasm. It can be locally invasive and potentially degenerate to a malignant tumor. We present a case report of a 36-year-old woman who was treated for nasal inverted papilloma for over 10 years and presented bilateral temporal bone, and pulmonary involvement. Several procedures were performed to completely remove the tumor. Even without evidence of malignant degeneration, the patient continued battling tumor recurrences. To the best of our knowledge, this report presents the first case of a multicentric inverted papilloma with nasal, bilateral temporal bone, and pulmonary metachronous localization. Laryngoscope, 131:E2640-E2642, 2021.
