Individuals with mucopolysaccharidosis type VII (MPS VII) can present perinatally with early demise, nonimmune hydrops fetalis, cholestatic jaundice, and hepatosplenomegaly, or in early childhood with developmental delay and characteristic musculoskeletal features (e.g., short neck, short-trunk short stature, pectus deformity, gibbus, and joint stiffness/contractures) and craniofacial features (e.g., macrocephaly, coarse hair, coarse facies, corneal clouding, and macroglossia). Skeletal survey shows features of dysostosis multiplex including thickened cortical bone, abnormal J-shaped sella turcica, paddle- or oar-shaped ribs, short, thickened clavicles, platyspondyly with anterior beaking of the lower thoracic and lumbar vertebrae, and proximal pointing of the metacarpals and metatarsals. Complications include developmental delay, intellectual disability, hepatosplenomegaly, spinal stenosis, recurrent otitis media, hearing loss, pulmonary disease, obstructive sleep apnea, hernias, feeding difficulties, and heart valve disease.

Objectives: The purpose of this study is to evaluate clinical information, laboratory results, and pathologic findings of patients with amyloidosis involving larynx, oral cavity, and pharynx from our institute. Methods: A total of 39 specimens from 28 patients were retrieved from 2000 to 2020. Data collection included clinical presentation, radiographic, laboratory results, and pathologic findings. Results: A total of 12 patients had laryngeal amyloidosis and true vocal cord was the most common location. Protein electrophoresis detected monoclonal protein in 10% (1/10) of patients tested. Two patients had hematopoietic disorder (2/12, 17%) and another patient had a peptide profile consistent with amyloid transthyretin (ATTR) detected by mass spectrometry. Twelve patients showed amyloidosis in the oral cavity with 75% involving the tongue. Monoclonal protein was found in 89% of cases tested. Nine patients (9/12, 75%) had systematic involvement including 6 with hematopoietic malignancy and 3 with biopsy-confirmed systemic light chain amyloidosis. Compared to the laryngeal amyloidosis, amyloid deposition in oral cavity had a significant higher association with systematic disease (P < .01). Pharyngeal amyloidosis was seen in 7 patients. Three of 6 patients tested (3/6, 50%) were found to have biopsy-confirmed hematopoietic malignancy. Conclusions: Laryngeal amyloidosis is mostly a localized disease. Amyloidosis involving oral cavity is associated with significantly higher risk of systematic involvement which warrants a comprehensive laboratory, radiographic, and pathologic workup. There is limited data about pharynx amyloidosis. Oropharynx and hypopharynx amyloidosis appear to be more likely associated with underlying hematologic malignancy compared to nasopharynx involvement.

This study was performed to identify variables potentially associated with failure of the first intubation attempt in an out-of-hospital emergency setting, considering all aspects of tracheal intubation. This observational prospective multicenter study was performed over 17 months and involved 10 prehospital emergency medical units. After each tracheal intubation, the operator was required to provide information concerning operator and patient characteristics, as well as the environmental conditions during intubation, by completing a data collection form. The primary endpoint was failure of the first intubation attempt. During the study period, 1546 patients were analyzed, of whom 59% were in cardiac arrest; 486 intubations failed on the first attempt (31.4% [95% confidence interval = 30.2-32.6]). Multivariate analysis revealed that the following 7 of 28 factors were associated with an increased risk of a failed first intubation attempt: operator with fewer than 50 prior intubations (odds ratio [OR] = 1.8 [1.4-2.4]), small inter-incisor space (OR = 2.3 [1.7-3.2]), limited extension of the head (OR = 1.6 [1.1-2.1]), macroglossia (OR = 2.3 [1.6-3.2]), ear/nose/throat (ENT) tumor (OR = 4.4 [1.4-13.4]), cardiac arrest (OR = 1.8 [1.3-2.6]), and vomiting (OR = 1.7 [1.3-2.3]). The frequency of adverse events among non-cardiac arrest patients was 17.6%; it increased with each additional intubation attempt. The first intubation attempt failed in more than 30% of cases, and seven variables were associated with increased risk of failure. Most of these factors could not be predicted.

We encountered a man in his 60s presenting with worsening macroglossia. The patient underwent extensive otolaryngology evaluation and was diagnosed with primary (AL) amyloidosis on tongue biopsy with Congo red stain. The patient then underwent a bone marrow biopsy and was also found to have concurrent multiple myeloma. He started induction therapy with daratumumab and CyBorD (cyclophosphamide, bortezomib, dexamethasone). Cardiac MRI revealed extensive cardiac amyloidosis and the patient was deemed high risk for autologous stem cell transplant (auto-HCT). Unfortunately, the patient underwent hospitalisation for heart failure exacerbation requiring extensive medical management and passed away as a result of this pathology. AL amyloidosis is a rare disease to begin with and macroglossia as the only presenting sign is notable. This case emphasises the importance of considering AL amyloidosis in patients presenting with similar complaints as macroglossia can be attributed to other less serious aetiologies.

A 50-year-old African American woman with hypertension, congestive heart failure, chronic kidney disease and prior cerebral vascular accident was transferred from an outside hospital after being found unresponsive and subsequently intubated for severe orolingual swelling. Imaging showed left thalamic haemorrhagic stroke, and the lingual swelling was clinically concerning for angio-oedema, with which a lingual biopsy was consistent. Work-up was negative for hereditary or acquired angio-oedema, and imaging was negative for structural causes. Of note, the patient had an episode of severe orolingual swelling 3 months prior to this presentation after suffering left thalamic haemorrhage which self-resolved after approximately 2 months. In both episodes lingual swelling predated receipt of tissue plasminogen activator and she had discontinued ACE inhibitor therapy since her first episode of tongue swelling. Despite medical and supportive management, tongue swelling progressed during admission and the decision was made to allow the patient's tongue swelling to self-resolve.

Ear, Nose and Throat (ENT) involvement by mucopolysaccharidoses is very common, affecting over 90% of patients, and occurs early in the course of the disease. Airway narrowing secondary to glycosaminoglycan deposition results in greatly increased morbidity, mortality and risk of anesthetic complications in these patients. Macroglossia, restricted mouth opening, tracheobronchomalacia, adenotonsillar hypertrophy along with other factors such as a short, rigid and unstable cervical spine, cardiac disease and increased susceptibility to respiratory infections result in a high perioperative mortality and morbidity. Imaging is most beneficial for evaluation of the airway, in particular in patients with obstructive symptoms and prior to intubation. We review the ENT manifestations of mucopolysaccharidoses including airway involvement, otological, oral and dental complications. 3-D reconstructions of the trachea, which is routinely captured on CT imaging of the spine, can be of great value for planning intubation in this patient population.

Good exposure for visualisation of the glottis is an essential prerequisite for effective microlaryngoscopy. There is no definitive clinical predictor scoring system to predict difficult microlaryngoscopy. The aim of the study was to study the validity of the Laryngoscore scoring system as a preoperative clinical predictor score in Indian population for difficult laryngeal exposure during microlaryngoscopy. A prospective study was carried out in 32 patients undergoing microlaryngoscopy in a tertiary care hospital who were evaluated by a standardized preoperative assessment protocol (Laryngoscore) which included 11 parameters interincisors gap, thyro-mental distance, upper jaw dental status, trismus, mandibular prognathism, macroglossia, micrognathia, degree of neck flexion-extension, history of previous open-neck and/or radiotherapy, Mallampati's modified score, and body mass index. Each parameter was assessed to obtain a total score (Maximum-17). Patients were divided into five classes according to the anterior commissure visualization: class 0 to class IV. Class 0 being complete and class IV being impossible AC visualization. When the Laryngoscore was < 6, good laryngeal exposure was observed in 94% of patients. Laryngoscore had a sensitivity of 87.5% and specificity of 75% in predicting difficult laryngeal exposure. The positive and negative predictive values of the same are 53.8% and 94.7% respectively. Our study found that the Laryngoscore scoring system as a preoperative indicator for predictor of Difficult Laryngeal Exposure during Micro Laryngeal surgeries is very useful in the Indian population.

A 58-year-old man presented with a chief complaint of tongue indentations and discomfort. Otolaryngology treated him for oral thrush with counselling to avoid tongue biting. In addition, the patient reported dyspnoea described as a decrease in tolerance of his physical activities. Due to continued increase in tongue size and worsening dyspnoea, he underwent a tissue biopsy with findings consistent with amyloidosis. Further evaluation with a bone marrow biopsy revealed underlying multiple myeloma. Echocardiography revealed abnormal ventricular wall thickness, with a reduced left ventricular chamber size, dilated atria and Doppler findings with restrictive filling patterns indicative of cardiac amyloidosis. The patient was initiated on chemotherapy for his multiple myeloma and supportive therapy for his cardiac amyloidosis. Light-chain amyloidosis (AL) is a systemic disease characterised by irreversible deposition of amyloid in tissues throughout the body; when there is cardiac involvement, it can result in heart failure with a poor prognosis. Early diagnosis of cardiac amyloidosis can lead to prolonged survival.

The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a variety of multi-organ clinical manifestations, and premature death. Ear, nose, and throat (ENT) disorders affect more than 90% of MPS patients and appear in the early stage of MPS; also reported are recurrent otitis media and persistent otitis media with effusion, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sleep apnoea syndrome (OSAS), hearing loss, and progressive respiratory disorders. Undiagnosed MPS patients are frequently referred to otolaryngologists before the diagnosis of MPS is confirmed. Otolaryngologists thus have an early opportunity to recognize MPS and they can play an increasingly integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS. The ENT commitment is therefore to suspect MPS when non-specific ENT pathologies are associated with repeated surgical treatments, unexplainable worsening of diseases despite correct treatment, and with signs, symptoms, and pathological conditions such as hepatomegaly, inguinal hernia, macrocephaly, macroglossia, coarse facial features, hydrocephalous, joint stiffness, bone deformities, valvular cardiomyopathy, carpal tunnel syndrome, and posture and visual disorders.

Lipoma is the most common, benign, soft tissue, mesenchymal tumour and is composed of mature adipose tissue. It is infrequent in the oral cavity (approximately 0.3% of all tongue neoplasias). We describe the case of a 68-year-old man with a swelling at the tongue edge and tongue dysesthesia. Medical history, clinical assessment, radiographic images, and cytological analysis enabled specialists to classify this neoplasia as a lipoma. The patient recovered fully after surgical excision of the affected area, and the neuralgic symptoms regressed. Surgical excision is an elective treatment; however, accurate differential diagnosis, histological examination, and follow-up are required.

A 55-year-old woman was operated in the lateral park bench position with significant neck flexion and oral packing. Macroglossia was noticed immediately postoperatively after endotracheal extubation. The patient was reintubated for 13 days and subsequently required a tracheostoma. After the placement of the tracheostoma and the removal of the endotracheal tube, the congestion of the tongue decreased markedly within 24 hours. Macroglossia is a rare complication following posterior fossa procedures with few cases reported so far. It can cause airway obstruction, which could be a life-threatening complication, and it therefore requires prompt treatment. The aetiology of postoperative macroglossia remains uncertain and has been attributed to arterial, venous and lymphatic compression, mechanical compression, or neurogenic causes. This article describes new insights into aetiology and also describes preventive measures and possible treatment.