Pediatric Cochlear Implants in the Chudley-McCullough Syndrome: A Report of Two Cases.

Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss and cerebral abnormalities, including ventriculomegaly and partial dysgenesis of the corpus callosum. CMS is caused by two inactivating mutations of the G protein signaling modulator 2 (GPSM2), which maintains inner hair cell polarity and spindle orientation. Since its initial description, CMS has been reported approximately 30 times in the medical literature with several individuals undergoing cochlear implantation to restore their hearing. Interestingly, within the past two years, we encountered two cases of CMS in our hospital, which primarily serves patients within a 30-mile radius. To our knowledge, the literature has yet to evaluate two unrelated cases of CMS occurring in such close succession. This case report describes two successful cases of bilateral cochlear implantation in two children with CMS. Notably, these individuals have no family history of consanguinity or prior hearing loss.

Cochlear Implantation and Facial Nerve Synkinesis in an Infant with Hypoplastic Internal Auditory Canals - A Case Report.

Sensorineural hearing loss (SNHL) is a common finding in cases of the congenital internal acoustic canal (IAC) stenosis. Previous reports reveal a relationship between IAC stenosis and facial palsy as well as vestibular dysfunction. This case identifies a patient with bilateral profound SNHL, bilateral IAC stenosis, and temporary unilateral facial palsy who went on to receive bilateral cochlear implants (CI). The facial nerve synkinesis that was found in this patient with hypoplastic IACs occurred after a cochlear implant activation. The synkinesis was ipsilateral to prior transient facial palsy after salmonella infection. Patients with IAC stenosis and cochlear nerve hypoplasia may respond well to cochlear implantation, but caution should be used when considering CI with an emphasis on counseling for possible facial nerve complications.

Injection laryngoplasty in neonates and young children with unilateral vocal fold immobility.

INTRODUCTION: Although injection laryngoplasty (IL) is a well-accepted treatment strategy in older children and adults with unilateral vocal fold immobility (UVFI), its efficacy and safety have not been well studied in neonates and young children. OBJECTIVES: The main objective of this study was to evaluate the clinical and radiographic effects of IL on aspiration & dysphagia in neonates and young children with UVFI. METHODS: This was a retrospective chart review of infants and children who underwent IL at a tertiary children's hospital. The primary endpoints were improved aspiration and avoidance of gastrostomy tube placement. Additional endpoints included adverse airway and swallowing effects of IL. RESULTS: Eight patients were included in this case series. A total of 10 injection laryngoplasties were performed. Average corrected age of patients undergoing IL was 1.22 years(range 0.5-3.6 y). Seven out of 8 patients had preoperative modified barium swallow (MBS). Five out of seven showed improvement in aspiration. Three out of six (50%) patients who did not have gastrostomy tube preoperatively, were able to avoid gastrostomy tube. No adverse effects were noted following IL. One patient with severe tracheomalacia ultimately required tracheostomy 5 months after IL. CONCLUSION: Injection laryngoplasty appears to be a safe and effective therapeutic option in neonates and young children with unilateral vocal cord immobility and associated aspiration. It may be an effective treatment to improve aspiration and avoid gastrostomy tube placement. Further investigation is warranted. LEVEL OF EVIDENCE: 4.

Gene expression in the oropharynx of children exposed to secondhand smoke.

OBJECTIVES/HYPOTHESIS: To compare gene expression in oropharyngeal mucosa of children with (ex+) and without (ex-) secondhand smoke exposure. STUDY DESIGN: Prospective case-control. METHODS: Forty-one age- and gender-matched children (2-6 years old) undergoing tonsillectomy for sleep disordered breathing at a tertiary care children's hospital were assessed for secondhand smoke exposure. Parental response to a validated questionnaire relating to secondhand smoke exposure governed inclusion. Sixteen samples were selected for microarray analysis (7 ex+, 9 ex-). Following tonsillectomy, ex vivo brushing of the mucosa isolated total RNA. Genome-wide expression profiles were generated by comparing sample RNA to a reference of all samples, assessing 27,323 cDNA clones. Microarray clones were ranked according to their ability to distinguish between the two groups using a Student t test. RESULTS: A total of 318 cDNA clones distinguished the two groups (P < .01); 180 genes were overexpressed and 138 underexpressed in ex+ samples relative to the ex- group. Independent analysis of these two groups sorted genes into disease processes and molecular functional groups, including cancer (34 genes in the overexpressed group, 29 underexpressed, P < .05), cell cycle (14 and 10), and cell growth and proliferation (7 and 11). Two of the upregulated genes, LCN2 and IQGAP1, have been previously linked to inflammation in smokers and response/repair to cellular injury in bronchial epithelium. CONCLUSIONS: Findings in this pilot study support the hypothesis that secondhand smoke exposure seems to induce gene expression changes in the oropharyngeal mucosa of exposed children, which may have significant implications for current and future disease processes.

Case report: Treatment failure using propanolol for treatment of focal subglottic hemangioma.

Subglottic hemangioma is a rare, potentially life threatening tumor of infancy which poses serious treatment challenges. A number of medical and surgical therapies over the years have met with variable success, and are associated with numerous potential morbidities. A potential windfall in the management of infantile hemangiomas has arisen with the recent identification of propanolol as a highly efficacious and relatively safe new treatment modality. At least five reports in the literature have described the rapid, successful treatment of airway hemangiomas with oral propanolol. We describe the first reported treatment failure with propanolol for subglottic hemangioma in an infant who initially responded dramatically to the medication.

Laryngotracheobronchitis complicated by spontaneous pneumomediastinum.

Spontaneous pneumomediastinum (SPM) is an unusual clinical entity that most frequently follows episodes of increased intrathoracic pressures. While typically a benign condition, potentially fatal complications of SPM must be considered and ruled out with each case. We aim to present the first case of croup-associated SPM in the otolaryngology literature and to discuss clinical, diagnostic and management principles. Days following the diagnosis of viral croup, a 7-year-old asthmatic girl presented with unstable vital signs and severe SPM. The patient was urgently taken to the operating room for an endoscopic airway evaluation, which revealed only a mild bacterial croup superinfection. Conservative treatment with inpatient monitoring and antibiotic therapy successfully resolved the episode. SPM should be immediately considered in the differential diagnosis of any patient presenting with cervical emphysema, especially in association with asthma, cough or strenuous activity. Following exclusion of other causes of SPM, conservative and supportive therapies are the mainstays of SPM management.

Tonsillectomy techniques and pain: a review of randomized controlled trials and call for standardization.

OBJECTIVES: To review the literature comparing operative techniques in tonsillectomy and postoperative pain. METHODS: Randomized controlled trials comparing operative techniques and pain outcomes over a 10-year period were reviewed. RESULTS: 44 trials met inclusion criteria for analysis. A total of nine different techniques for complete or partial tonsillectomy were compared. There were several studies with contradictory results. Many of the studies were performed under different parameters. CONCLUSIONS: Future studies comparing tonsillectomy technique and pain outcomes should be conducted using a standard protocol to allow for accurate comparisons between numerous techniques.

Persistently elevated parathyroid hormone levels after parathyroid surgery.

BACKGROUND: Persistent elevation of serum parathyroid hormone (PTH), despite normocalcemia, occurs in 8% to 40% of patients after parathyroidectomy. Explanations have included hypocalcemia owing to vitamin D deficiency or bone remineralization, and persistent hyperparathyroidism. METHODS: A retrospective chart review of 816 consecutive patients who underwent surgery for primary hyperparathyroidism was conducted. RESULTS: One hundred fourteen patients (15%) had persistently elevated PTH levels (PPTH). Patients with PPTH had higher preoperative PTH levels than those with normal PTH levels postoperatively. They also had lower postoperative Ca(++) and vitamin D levels. Multiple gland enlargement was identified in fewer patients with PPTH than in those with normal postoperative PTH levels. In patients with PPTH and a postoperative Ca(++) less than 9.6 mg/dL (group I), there was a greater decrease in IOPTH, a higher initial postoperative PTH level, and a lower postoperative vitamin D level than in PPTH patients whose postoperative Ca(++) was > or =9.6 mg/dL (group II). Postoperative Ca(++) and vitamin D levels were also lower in patients whose PPTH did not ultimately resolve. Three patients in group II had recurrent disease. CONCLUSIONS: Persistent elevation of postoperative serum PTH levels in normocalcemic patients is associated with mild hypocalcemia, probably owing to vitamin D deficiency. In some patients it may also be indicative of mild persistent hyperparathyroidism.