RESUMEN
Riboflavin transporter deficiency (RTD) is a rare genetic disorder that can have detrimental effects on the nervous system, causing progressive neurodegeneration. Here, we report the second case of RTD in Saudi Arabia. An 18-month-old boy presented to the otolaryngology clinic with six weeks history of progressive noisy breathing associated with drooling, choking, and difficulty in swallowing. Progressive regression of the child's motor and communicative abilities was reported as well. Upon examination, the child had biphasic stridor, chest retractions, bilateral facial palsy, and hypotonia. The presence of an aerodigestive foreign body or congenital anomalies was excluded using bronchoscopy and esophagoscopy. Empirical high-dose riboflavin replacement therapy was initiated upon anticipation of diagnosis. Whole exome sequencing revealed a SLC52A3 gene mutation, which confirmed the diagnosis of RTD. After a period of intensive care unit (ICU) admission with endotracheal intubation, the child's general condition improved, and he was weaned off of respiratory support. Tracheostomy was avoided in this patient, as he responded to riboflavin replacement therapy. During the disease course, an audiological assessment revealed severe bilateral sensorineural hearing loss. He was discharged home on gastrostomy feeding owing to the risk of frequent aspiration, and he was regularly followed up by the swallowing team. The early initiation of high-dose riboflavin replacement appears to be of great value. The benefits of cochlear implants in RTD have been reported, but not fully established. This case report will increase awareness in the otolaryngology community about patients with this rare disease who might initially present to the clinic with an otolaryngology-related complaint.
RESUMEN
Objectives This study aimed to translate the Dyspnea Index (DI) questionnaire into the Arabic language and determine whether this version is valid and reliable for Arabic-speaking patients with upper airway-related dyspnea. Methods A cross-sectional study was conducted at the King Saud University Medical City otolaryngology clinics in Riyadh, Saudi Arabia. The DI questionnaire was translated into Arabic and then back-translated into the English language. Inclusion criteria were preoperative patients presenting to the otolaryngology clinic with upper airway-related dyspnea between November and December 2020. The results of internal consistency and factor analysis among the items were compared to the original DI development results to assess the reliability of the questionnaire. Results Among a total of 57 recruited patients, 50 questionnaires were completed with an 88% response rate. The mean age of the included patients was 38 ±14 years. Women constituted 58% of the patients. The most common diagnosis was subglottic stenosis (72%). Principle component extraction in factor analysis revealed a single underlying factor for all the questions. Factor loading ranged from 0.69 to 0.85. Reliability statistics showed a high value of internal consistency among the items. The mean inter-item correlation was 0.58. Conclusion Based on our findings, the Arabic version of the DI questionnaire is a reliable instrument for evaluating upper airway dyspnea.
