Practical insights for paediatric otolaryngology surgical cases and performing microlaryngobronchoscopy during the COVID-19 pandemic.

Paediatric otolaryngology practice involves examining and operating in anatomical locations with high levels of aerosol generation and transmission of COVID-19 to treating clinicians, especially from the asymptomatic patient populations including children. During the COVID-19 pandemic all emergent otolaryngological conditions affecting the airway, oral, and nasal cavities should be managed medically where possible and any operating deferred. We present guidelines for operating on paediatric otolaryngological patients when necessary during the COVID-19 pandemic, and incorporate experience gathered during microlaryngobronchoscopy on a COVID-19 positive infant at our institution.

Surgical aspects of cochlear implantation in syndromic children.

OBJECTIVE: The objective of this study was to report surgical results and outcomes of cochlear implantation in a large series of children with syndromes from one centre. PATIENTS AND METHODS: All syndromic children who underwent cochlear implantation at Great Ormond Street Hospital, from January 2000 to December 2010 were included in this study. The surgical technique was analysed and audiological outcomes were collected. RESULTS: Over the 10-year period of this study, a total of 88 cochleas in 67 children with syndromes were implanted. The common syndromes implanted in this study were Ushers syndrome (23 patients, 33 cochleas), Wardenburgs syndrome (8 patients, 9 cochleas), Pendreds syndrome (4 patients, 4 cochleas), Jervell-Lange-Neilsen syndrome (3 patients, 4 cochleas), Enlarged vestibular aqueduct syndrome (4 patients, 7 cochleas), Cogans syndrome (3 patients, 4 cochleas), CHARGE (5 patients, 6 cochleas), and Branchio Oto Renal syndrome (3 patients, 4 cochleas). Pre-operative radiological inner ear anatomy was found to be abnormal in 28.4% (25/88) cochleas in this study group. Full insertion of the electrode was achieved in 93.1% (82/88) of cochleas, partial insertion in three cochleas, and insertion was abandoned in three cochleas. Early complications were seen in 6.8% (6/88) of implantations. All the 64/67 children who were implanted are still using the implant. CONCLUSION: Cochlear implantation in syndromic children is challenging in both its audiological and surgical aspects. Good surgical results and good audiological and speech outcomes were achieved in this study, and subjective improvement in quality of life was achieved in these patients.

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

OBJECTIVE: The congenital myasthenic syndromes (CMS) are a group of genetic disorders of neuromuscular transmission causing fatigable weakness. Symptoms may be present from birth, but diagnosis is often delayed for several years, notably in post-synaptic CMS due to mutations in the DOK7 gene. Recently, we noted a subgroup of children with CMS in whom congenital stridor and bilateral vocal cord palsy predated other symptoms. All had mutations in the DOK7 gene. The purpose of this study was to review our population of DOK7 CMS patients with congenital stridor and assess whether there were other phenotypic features which might raise suspicion of a diagnosis of CMS in the neonatal period, in the absence of limb weakness and ptosis and prompt earlier referral for neurophysiological investigation, genetic diagnosis and appropriate treatment. METHODS: A retrospective case review of 11 DOK7 CMS patients at a tertiary referral centre. RESULTS: Six patients were identified with DOK7 mutations and congenital stridor, four requiring intubation soon after birth. Four patients had a diagnosis of bilateral vocal cord palsy and three required tracheostomy, successfully decannulated in one after 3 years. All six patients had difficulty with feeding, with weak suck and swallow necessitating nasogastric feeding in five, two of whom required gastrostomy. Despite all six children having had neonatal symptoms, the mean age at CMS diagnosis was 5 years and 9 months. CONCLUSION: CMS, particularly caused by mutations in the DOK7 gene, is a rare but treatable cause of congenital stridor in the neonate. A combination of congenital stridor, especially with an apparently idiopathic bilateral vocal cord palsy and weak suck and swallow should alert the clinician to the possibility of CMS and prompt early referral for neurophysiology and genetic investigations. Confirmation of a CMS diagnosis enables treatment to be initiated, informed management of the VCP and anticipation of myasthenic symptoms, particularly life-threatening respiratory decompensation. Treatment may allow early decannulation or possible avoidance of tracheostomy. At least 12 genes are known to cause CMS; the presence of congenital stridor may help target genetic diagnosis.

Successful treatment of isolated subglottic haemangioma with propranolol alone.

Subglottic haemangioma is a rare but potentially life threatening condition which requires intervention. Many different treatments have been described with varying degrees of success and complications. Recently, successful treatment with propranolol has been reported in 11 cases of cutaneous haemangiomas and then in two cases of subglottic haemangiomas with extensive cutaneous lesions in conjunction with other treatment modalities. We describe the successful treatment with propranolol, of a stridulous four-month-old child with a 95% obstructing subglottic haemangioma. This was achieved without the need for tracheostomy or any other surgical intervention, and with no reported side effects. We now believe the new discovery of a dramatic response to propranolol allows treatment in the acute setting and following further study may render surgical treatment of subglottic haemangioma obsolete.