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1.
Cureus ; 15(6): e40402, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37456423

RESUMO

The lingual frenulum (LF) is a fold of tissue that connects the tongue to the oral cavity's floor. Abnormal frenula are associated with speech alterations. The absence of the LF is associated with Ehler's Danlos syndrome (EDS). In this case report, we present a premature infant incidentally found to have an absent lingual frenulum, with recurrent desaturations during feeding. The desaturations were believed to be due to the absent lingual frenulum, but they resolved after one month without treatment and were then attributed to apnea of prematurity. Whole exome sequence showed no genetic disorders. The infant is now doing well with no interventions. An absent lingual frenulum warrants molecular genetic testing for EDS. However, it does not warrant any treatment; special considerations are only required during intubation.

2.
Cureus ; 15(3): e36312, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37077589

RESUMO

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.

3.
Ear Nose Throat J ; : 1455613221128111, 2022 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-36112766

RESUMO

OBJECTIVE: Perioperative risk stratification of pediatric patients undergoing airway intervention remains crucial in identifying those at a higher risk of requiring postoperative intensive care unit (ICU) care. Here we determined the likelihood of and possible risk factors for developing perioperative adverse respiratory events (PAREs) requiring ICU care after various pediatric endoscopic airway surgeries (EASs). METHODS: We conducted a retrospective chart review of pediatric patients who were aged <18 years and underwent EAS between 2015 and 2021. Early postoperative adverse events within 24 h of surgery were recorded and analyzed. RESULTS: Overall, 99 patients who underwent EAS were included. The age at the time of the intervention ranged from 8 months to 18 years. Fifty-eight patients, median age was 4.83 years, underwent papilloma debulking with no high likelihood of PARE in this patient subgroup (OR = 0.48; 0.16-1.44). Twenty-five patients, median age was 9.72 years, underwent balloon dilation of laryngotracheal stenosis with no increase in the likelihood of PARE in this patient population (OR = 2.02; 0.65-6.28). Early postoperative respiratory events occurred in 16 patients (16.2%). Most of these events (75%) manifested within 4 h after surgery. In a univariate analysis, intervention at the level of the subglottis or 2 or more laryngeal subsites increased the risk of PARE (OR = 6.57; 1.11-12.52 and OR = 3.73; 1.93-22.34, respectively). In a multivariate analysis, only intervention in the subglottic area maintained its effect (OR = 6.84; 1.82-25.65). CONCLUSION: Respiratory adverse events following pediatric EAS are not uncommon, and the majority are encountered shortly after surgery. Intervention in the subglottic area was an independent predictor of PARE.

4.
Case Rep Otolaryngol ; 2020: 8885870, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32908758

RESUMO

INTRODUCTION: Frontal sinus surgery remains challenging to manage because of its complex anatomy and narrow outflow tract. A number of studies suggest the success of frontal sinus stenting to reduce postoperative complications in endoscopic frontal sinus surgery. However, failure and complications of frontal sinus stenting may occur. METHOD: We present a case of frontal sinus stenting with migration of the stent and erosion of the lamina papyracea together with a granulomatous reaction around the stent. PubMed and Medline search was also conducted to study the current evidence on frontal sinus stenting benefits and complications. RESULTS: Still there are no guidelines or universally accepted indications for the use of frontal sinus stenting in the literature. A limited number of studies suggest the success of frontal sinus stenting to reduce postoperative stenosis in endoscopic frontal sinus surgery. However, failure and complications of frontal sinus stenting may occur. Infection, pain, edema, and stent obstruction may also occur. Our case report also highlights the potential of orbital complications as well as the consequences of inducing a granulomatous reaction. CONCLUSION: The value of frontal sinus stenting is still a subject of debate. Complications of frontal sinus stenting are not uncommon and thus necessitate regular follow-up.

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