New variants of ALMS1 gene and familial Alström syndrome case series.

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.

New variants of ALMS1 gene and familial Alström syndrome case series

Abstract 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.

Middle Ear Cholesteatoma and Vestibular Schwannoma Resection Followed by Cochlear Implant: Surgical Challenges and Audiological Outcomes.

(1) Background: The occurrence of vestibular schwannoma (VS) associated with cholesteatoma is rare. A hearing impairment is one of the most significant issues in such cases. Moreover, the presence of middle and inner ear pathologies combined may represent a surgical challenge. No studies have described a combined surgical approach for these coexisting conditions (VS and cholesteatoma), nor the hearing rehabilitation outcomes of using cochlear implants for these patients. (2) Case Report: This paper is on a female patient who underwent simultaneous surgical treatments for VS and middle ear cholesteatoma in the right ear followed by a cochlear implant, describing the technique and the audiological results. (3) Conclusions: The surgical approach was successful and enabled the resection of lesions with the auditory nerve and cochlea preservation. Cochlear implantation in the right ear showed positive postoperative results, with an improvement in the results with the CI in silent and noisy environments.