MPS VII - Extending the classical phenotype.

Mucopolysaccharidosis VII (or Sly syndrome) is an autosomal recessive disorder characterised by a deficiency in the enzyme Beta-glucuronidase (GUSB). Partial degradation of glycosaminoglycans (GAGs); chondroitin sulfate (CS), dermatan sulfate (DS) and heparan sulfate (HS) results in the accumulation of these fragments in the lysosomes of many tissues, eventually leading to multisystem damage. In some cases, early diagnosis on clinical grounds alone can be difficult due to the extreme variability of the clinical presentation and disease progression. We present a case report of a 31-year-old male patient diagnosed with MPS VII at the age of 28, who multiple specialists saw without suspecting the diagnosis due to the unusual presentation. The patient presented with a history of developmental delay, scoliosis, kyphosis, corneal clouding, abnormal gait, short stature, hearing impairment, slightly coarse facial features and progressive deterioration of fine motor skills since childhood. The patient had inguinal hernia repair at around 12 months, bilateral hearing impairment with a left bone-anchored hearing aid, and spinal surgery. During spinal surveillance MPS VII was suspected by a spinal surgeon with interest in MPS, and the diagnosis confirmed with a deficiency in beta-glucuronidase in leucocytes and marginally elevated urinary GAGs. Next-generation sequencing identified two mutations in the GUSB gene (OMIM 611499), c.526C > T p.(Leu176Phe) and c.1820G > C p.(Gly607Ala). Although the patient exhibited features of the severe form of non-classical manifestations, his metabolic condition has remained reasonably stable, surviving into adulthood with only symptomatic treatment. We present the ever-expanding phenotypic spectrum of this ultra-rare disease.

Customising the length of the Montgomery T-tube whilst retaining a bevelled edge.

BACKGROUND: The Montgomery T-tube is used in a number of conditions that require safe tracheal stenting. Specific lengths of T-tube limbs are occasionally needed in patients with complex airway anatomy or differing neck proportions; this requires customisation of the T-tube limbs. This is done either by pre-ordering customised T-tubes from the manufacturer (which needs to be planned ahead of time) or using a tube cutter in the operating theatre. However, the latter does not provide a 'factory like' bevelled edge when shortened, which increases the risk of mucosal trauma and granulation formation. OBJECTIVE: This paper reports a novel technique for customising the length of existing Montgomery T-tubes, with preservation of the bevelled edges. This technique can be easily performed with basic equipment available in operating theatres.

Case series: Endoscopic management of fourth branchial arch anomalies.

INTRODUCTION: Fourth branchial arch anomalies represent <1% of all branchial anomalies and present as recurrent neck infections or suppurative thyroiditis. Traditionally, management has consisted of treatment of the acute infection followed by hemithyroidectomy, surgical excision of the tract and obliteration of the opening in the pyriform fossa. Recently, it has been suggested that endoscopic obliteration of the sinus tract alone using laser, chemo or electrocautery is a viable alternative to open surgery. OBJECTIVES: To determine the results of endoscopic obliteration of fourth branchial arch fistulae in children in our institute. METHODS: Retrospective case note review of all children undergoing endoscopic treatment of fourth branchial arch anomalies in the last 7 years at the Royal Manchester Children's Hospital. Patient demographics, presenting symptoms, investigations and surgical technique were analysed. The primary and secondary outcome measures were resolution of recurrent infections and incidence of surgical complications, respectively. RESULTS: In total 5 cases were identified (4 females and 1 male) aged between 3 and 12 years. All presented with recurrent left sided neck abscesses. All children underwent a diagnostic laryngo-tracheo-bronchoscopy which identified a sinus in the apex of the left pyriform fossa. This was obliterated using electrocautery in 1 patient, CO2 laser/Silver Nitrate chemocautery in 2 patients and Silver Nitrate chemocautery in a further 2 patients. There were no complications and no recurrences over a mean follow-up period of 25 months (range 11-41 months). CONCLUSION: Endoscopic obliteration of pyriform fossa sinus is a safe method for treating fourth branchial arch anomalies with no recurrence.

Radiofrequency ablation in the treatment of paediatric microcystic lymphatic malformations.

OBJECTIVE: Congenital lymphatic malformations are a challenging clinical problem. There is currently no universally accepted treatment for the management of microcystic disease. We describe the novel use of an existing technology (radiofrequency ablation, also termed Coblation) for the debulking of paediatric microcystic lymphatic malformations involving the upper aerodigestive tract. METHODS: Five children with microcystic or mixed-type lymphatic malformations were included in this retrospective case series. RESULTS: Each child had a satisfactory outcome following radiofrequency debulking, with improved oral intake and airway symptoms. No serious complications were reported. These findings constitute level IV evidence. CONCLUSION: We recommend radiofrequency ablation as a safe, viable alternative to existing techniques for the treatment of paediatric microcystic lymphatic malformations of the upper aerodigestive tract. Radiofrequency ablation achieves effective debulking of microcysts whilst avoiding excessive bleeding and thermal damage to surrounding tissues. This paper constitutes the first report of successful treatment of airway obstruction due to paediatric laryngopharyngeal microcystic disease, using radiofrequency ablation.

Rhabdomyosarcoma of the trachea: first reported case treated with proton beam therapy.

OBJECTIVE: We report a case of rhabdomyosarcoma of the trachea in a 14-month-old child, and we present the first reported use of proton beam therapy for this tumour. CASE REPORT: A 14-month-old girl presented acutely with a seven-day history of biphasic stridor. Emergency endoscopic debulking of a posterior tracheal mass was undertaken. Histological examination revealed an embryonal rhabdomyosarcoma with anaplasia. Multimodality therapy with surgery and chemotherapy was administered in the UK, and proton beam therapy in the USA. CONCLUSION: Only three cases of rhabdomyosarcoma of the trachea have previously been reported in the world literature. This is the first reported case of treatment of this tumour with proton beam therapy. Compared with conventional radiotherapy, proton beam therapy may confer improved long-term outcome in children, with benefits including reduced irradiation of the spinal cord.

Balloon dilatation to treat plasmacytosis of the supraglottic larynx.

OBJECTIVE: We discuss the use of balloon dilatation to relieve supraglottic stenosis caused by mucous membrane plasmacytosis. CASE REPORT: A 54-year-old man with a known diagnosis of mucous membrane plasmacytosis presented with dysphonia and worsening airway obstruction which required a tracheostomy. He underwent balloon dilatation of the supraglottic larynx using an angioplasty balloon within sequentially sized endotracheal tubes. This enabled successful decannulation, with minimal re-stenosis at eight-month follow up. CONCLUSION: To our knowledge, this is the first reported case of supraglottic stenosis caused by plasmacytosis to be successfully treated using this method. We have shown that this minimally invasive technique deals effectively with a complex airway and minimises re-stenosis.

Bone-anchored hearing aids and chronic pain: a long-term complication and a cause for elective implant removal.

OBJECTIVES: To report a case series of elective removal of bone-anchored hearing aid implants, and reasons for removal. DESIGN: Retrospective review of a prospectively collected database. SETTING: Two tertiary referral centres in the Manchester area: Manchester Royal Infirmary and Salford Royal University Hospital. PARTICIPANTS: A series of 499 adults and children who had undergone a total of 602 implant insertions (1984-2008). MAIN OUTCOME MEASURES: Implant removal rates, and reasons. RESULTS: Twenty-seven of the 602 implants (4.5 per cent) required removal. Of these, 12 were due to pain (2.0 per cent), seven to persistent infection (1.2 per cent), three to failure of osseointegration (0.5 per cent), three to trauma (0.5 per cent) and two to other reasons (0.4 per cent). CONCLUSION: Chronic implant site pain represents the main reason why implants are removed electively, and affects 2 per cent of all implants. This complication has important medico-legal implications and should be discussed when obtaining informed consent for implantation.

Failure of propranolol in the treatment of childhood haemangiomas of the head and neck.

BACKGROUND: Infantile haemangiomas enter a rapid proliferative phase within months of birth, before slowly involuting. Those with the potential for disfigurement or morbidity require intervention. Propranolol has emerged as an effective new treatment modality, with the potential to become the first-line treatment of choice. METHODS: Four children with haemangiomas of the head and neck were treated with propranolol at a tertiary referral centre. The size of the haemangioma and the symptoms resulting from airway compromise were monitored. RESULTS: Three of the four children showed a dramatic response to treatment with propranolol. However, one child responded initially but was readmitted with stridor secondary to new haemangioma proliferation. CONCLUSIONS: We report a cautionary case in which a subglottic haemangioma developed contemporaneously with propranolol treatment, requiring surgical intervention. This finding highlights the need for regular follow up of treatment response, and the need for monitoring for treatment side effects.

An unusual cause of nasal airway obstruction in a neonate: trans-sellar, trans-sphenoidal cephalocoele.

INTRODUCTION: Neonates are obligate nasal breathers, and nasal obstruction may have serious implications. We present an extremely rare cause of neonatal nasal obstruction, and its management. CASE REPORT: An eight-day-old neonate was referred for upper airway obstruction. Initial investigations had identified no obvious cause. Rigid airway endoscopy revealed a large, cystic lesion appearing to arise from the roof of the posterior nasal space. Computed tomography and magnetic resonance imaging indicated a basal cephalocoele projecting inferiorly into the oropharynx, with an intracranial connection to the pituitary fossa. Histology showed fibrovascular tissue lined on one aspect by respiratory type epithelium, with mucous glands present. The tissue contained multiple cystic spaces lined by choroid plexus epithelium, with glial tissue present in the walls of the mass. A transpalatal excision of the nasopharyngeal cephalocoele, with closure of the intracranial connection, palatal repair and lumbar drain placement was undertaken. Post-operative recovery was uneventful, with no evidence of cerebrospinal fluid leakage or palatal dysfunction. CONCLUSION: This surgical approach gave excellent access whilst avoiding the obvious morbidity associated with an intracranial approach. Nasal masses should be considered in the differential diagnosis of neonatal respiratory distress due to nasal obstruction.

Bronchogenic cysts as a cause of infantile stridor: case report and literature review.

INTRODUCTION: Cystic lesions related to the upper airway are an unusual cause of infantile stridor. Such a lesion may exert a mass effect, with subsequent airway compromise. CASE REPORT: A six-month-old boy was transferred to our unit with a right-sided, level IV neck lump and a three-month history of chronic cough and, latterly, inspiratory stridor. Computed tomography revealed a large, unilocular, cystic, cervicothoracic lesion causing marked compression of the trachea. Airway endoscopy subsequently revealed the larynx to be displaced to the left, with severe external compression of the trachea from just below the subglottic level to immediately above the carina. The mediastinal lesion was excised via an external approach. The histological diagnosis was a bronchogenic cyst. CONCLUSION: Bronchogenic cysts are a rare cause of infantile stridor, and should be considered in the differential diagnosis of cystic cervical and mediastinal masses. Surgical excision is the treatment of choice.

Primary endoscopic repair of intermediate laryngeal clefts.

INTRODUCTION: Traditionally, small laryngeal clefts may be closed endoscopically, while larger clefts necessitate an open anterior approach. We report the presentation, evaluation and outcome following endoscopic surgical repair of a series of laryngeal clefts. METHOD: Retrospective study of children treated in a tertiary referral centre between 2003 and 2008. The presenting symptoms, patient demographics, cleft type, surgical outcome and complications were evaluated. RESULTS: Seven children underwent primary endoscopic repair of their laryngeal clefts (four Benjamin-Inglis type III clefts and three type II clefts). Presenting symptoms included stridor, cough and cyanosis with feeds, swallowing problems, weak cry, and recurrent lower respiratory tract infection. Treatment was ultimately successful in six of the seven children; treatment was ongoing for the remaining child, who underwent subsequent revision surgery via an open approach. Two children went on to require a second endoscopic repair, and two underwent an open repair of a residual defect. One child required a tracheostomy for failed extubation in the post-operative period. CONCLUSION: Endoscopic repair is a safe, useful technique in the management of laryngeal clefts. Laryngeal clefts must be excluded in a child presenting with persistent aerodigestive tract symptoms, as described here.

Complications of bone-anchored hearing aid implantation.

INTRODUCTION: Bone-anchored hearing aid implantations have been performed in Manchester for over 20 years. This study examined a range of variables that can occur during the implantation process, and the effect they may have on successful outcome. METHOD: Retrospective study and literature review. LOCATION: Tertiary referral centre in central Manchester. RESULTS: Details of 602 bone-anchored hearing aid implantation procedures were retrieved from the departmental database. The overall complication rate was 23.9 per cent. The rate of revision surgery was 12.1 per cent. CONCLUSION: This study involved a significantly larger number of patients than any previously reported, similar study. Possible reasons for differences in outcomes, and recommendations for best practice, are discussed.

Scientific and clinical aspects of the use of cidofovir in recurrent respiratory papillomatosis.

OBJECTIVE: Cidofovir is the most contemporary adjuvant treatment for recurrent respiratory papillomatosis (RRP) and its use is increasing. Cidofovir is potentially harmful. Otolaryngologists should understand the science of cidofovir and review the current published data on the effects of this therapy. METHOD: Pubmed was searched using the terms cidofovir and papillomatosis. Comparisons were made between published articles. RESULTS: Thirteen articles were identified between 1998 and 2006, representing the treatment of 142 patients. Cidofovir did result in a significant improvement of papillomatous lesions in the majority (60%) of patients despite the use of different regimes of cidofovir administration. There was no unifying protocol in use. A partial response was demonstrated in 29% of patients. 7.5% had no response however, an additional 3.5% patients were lost to follow-up. No malignant change was reported. CONCLUSION: Cidofovir does appear to be effective in improving the outcome of patients with RRP. There are no reports of malignant transformation despite concerns raised by toxicology studies.

Acute disseminated encephalomyelitis after mastoid surgery in a child.

We present a case of acute disseminated encephalomyelitis after mastoid surgery in an 11-year-old child. The aim of this paper is to increase awareness about a previously unreported and an unusual neurological complication of cholesteatoma and mastoid surgery.

The role of magnetic resonance imaging in the assessment of suspected extrinsic tracheobronchial compression due to vascular anomalies.

AIMS: To evaluate the role of magnetic resonance imaging (MRI) in the assessment of children with suspected extrinsic tracheobronchial compression due to vascular anomalies. METHODS: Retrospective case note review in a tertiary referral centre. Twenty nine children who underwent dynamic laryngotracheobronchoscopy (DLTB) and were found to have a clinical suspicion of extrinsic tracheobronchial compression were evaluated. All subsequently underwent thoracic MRI within 10 days. The findings on endoscopy were compared to those of MRI, and where performed, echocardiography, aortography, and surgery. RESULTS: There were 17 males and 12 females (mean age 5 months, range 28 weeks gestation to 60 months). The most common presenting features were stridor and cyanotic episodes. MRI showed abnormalities in 21 patients. There were five vascular rings (three double aortic arches and two right aortic arches) and 11 cases of innominate artery compression. Other vascular anomalies noted included aberrant right subclavian artery and aneurysmal left pulmonary artery. Echocardiography was generally found to be unhelpful in the diagnosis of extra-cardiac vascular abnormalities. Angiography was subsequently conducted in eight children; findings agreed with those shown on MRI. Surgery was performed on all five vascular rings, one innominate artery compression, and one aneurysmal left pulmonary artery. Surgical findings were also compatible with the preoperative MRI. CONCLUSIONS: This study shows the successful use of MRI as the initial imaging modality in endoscopically suspected extrinsic vascular compression of the upper airway. It enables accurate delineation of vascular anomalies and, unlike aortography, is non-invasive and does not require the use of contrast media.

Otorhinolaryngological manifestations of the mucopolysaccharidoses.

The mucopolysaccharidoses (MPS) are a family of related inherited metabolic disorders where, due to specific lysosomal enzyme deficiencies, partially degraded glycosaminoglycans (GAGs) accumulate in the body's cells. Due to the ubiquitous nature of GAGs in the body this deposition can occur in many tissue types and may interfere with cellular function. Although these conditions are rare, there is a propensity for the disease process to cause problems with the function of the ears, noses and throats of affected patients. In this review, we present an overview of the clinical manifestations of MPS in general and highlight the problems specifically presenting in the field of otorhinolaryngology.