Int Arch Otorhinolaryngol 2014; 18 - a2220
DOI: 10.1055/s-0034-1388719

Changes in Clinical Patient with Swallowing Harboyan Syndrome: A Case Report

Rafaela Soares Rech 1, Aline Gasparin Rabaioli 1, Carla Thamires Rodriguez Castelli 1, Sheila Tamanini de Almeida 1
  • 1Universidade Federal de Ciências da Saúde de Porto Alegre

Introduction: It is known that the Harboyan syndrome (HS), also called congenital hereditary endothelial dystrophy, with progressive sensorineural deafness is a degenerative disease of the cornea characterized by the association of congenital hereditary endothelial dystrophy with progressive and postlingual sensorineural hearing loss.

Objective: To analyze orofacial motricity and swallowing characteristics in a patient with SH treated in hospital in Santa Casa de Porto Alegre.

Case Report: Patient was referred by the neurology team to review and investigate for oropharyngeal dysphagia. The clinical diagnosis of HS is associated with the following diagnostic hypotheses: Extrapyramidal Syndrome A/E, inborn error of metabolism, mitochondrial disease, or leukodystrophy.

Results and Conclusion: In orofacial motor sensory evaluation, the orofacial motricity structures, mobility, strength, and adequate sensitivity were observed. In a direct test of swallowing, an episode of cough in fluid intake was observed, but not in other consistencies while clinical signs of aspiration and laryngotracheal penetration were observed. Neck auscultation remained negative. Swallowing fluoroscopy was performed and no changes were identified during the examination. After reviews it was concluded that the patient had mild oropharyngeal dysphagia due to uncoordinated movements presented in the oral phase of swallowing, which at times could cause incoordination of swallowing and breathing. The patient presented with HS need for attention speech in order to promote food safety and management. For this case, the complications of swallowing may be the first sign of some other underlying disease still under investigation, since there are no reports in the literature on HS in oropharyngeal dysphagia.

Keywords: Harboyan syndrome, dysphagia, speech language pathologist.