This paper provides a detailed overview and discussion of anaesthesia in patients with mucopolysaccharidosis (MPS), the evaluation of risk factors in these patients and their anaesthetic management, including emergency airway issues. MPS represents a group of rare lysosomal storage disorders associated with an array of clinical manifestations. The high prevalence of airway obstruction and restrictive pulmonary disease in combination with cardiovascular manifestations poses a high anaesthetic risk to these patients. Typical anaesthetic problems include airway obstruction after induction or extubation, intubation difficulties or failure [can’t intubate, can’t ventilate (CICV)], possible emergency tracheostomy and cardiovascular and cervical spine issues. Because of the high anaesthetic risk, the benefits of a procedure in patients with MPS should always be balanced against the associated risks. Therefore, careful evaluation of anaesthetic risk factors should be made before the procedure, involving evaluation of airways and cardiorespiratory and cervical spine problems. In addition, information on the specific type of MPS, prior history of anaesthesia, presence of cervical instability and range of motion of the temporomandibular joint are important and may be pivotal to prevent complications during anaesthesia. Knowledge of these risk factors allows the anaesthetist to anticipate potential problems that may arise during or after the procedure. Anaesthesia in MPS patients should be preferably done by an experienced (paediatric) anaesthetist, supported by a multidisciplinary team (ear, nose, throat surgeon and intensive care team), with access to all necessary equipment and support.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-012-9563-1) contains supplementary material, which is available to authorized users.

SummaryChildren with anterior mediastinal masses may experience serious complications during general anaesthesia. We retrospectively surveyed the records of children with an anterior mediastinal mass who had been admitted to our hospital over a 7 year period. The presence of pre-operative symptoms or signs, findings of any special investigations performed and the anaesthetic outcome were noted. All radiological investigations were studied and tracheal compression measured. The majority of patients presented with severe clinical signs. There was a poor relationship between clinical signs and size of tumour or tracheal compression on CT scan. Corticosteroids were used prior to diagnosis in 33% of patients, all of whom were considered high risk. A clear diagnosis was made in 95% of these patients. The overall complication rate was 20% and 5% of patients had a serious complication related to anaesthesia. Stridor was the only sign that predicted an anaesthetic complication. Peri-operative respiratory complications were confined to patients with an isolated tracheal cross-sectional area less than 30% normal or less than 70% and associated with bronchial compression.

The safe anaesthetic management of a child with a phaeochromocytoma requires an understanding of the pathophysiology of the disease, together with a thorough knowledge of its pharmacology, in order to avoid or minimize the potentially harmful cardiovascular changes that may occur during anaesthesia. Although there is a considerable amount of information on the management of the adult with phaeochromocytoma, much less has been written concerning children with the disease. Children differ significantly from adults in the incidence, location, presentation and management of this condition and these differences are discussed here together with some of the more controversial issues of management.

The mucopolysaccharidoses are a group of inherited metabolic disorders that are renowned for presenting clinical problems, particularly related to cardiac, airway, and skeletal abnormalities, in children during anaesthesia. The changing clinical management of the mucopolysaccharidoses can be described in three phases. An initial phase of accumulation and dissemination of knowledge about the management of this rare disease with a growing recognition that untreated Hurler syndrome and more severe forms of other phenotypes such as Hunter syndrome and Maroteaux-Lamy syndrome were associated with severe complications under anaesthesia. This was followed by a second phase reflecting the beneficial results of new treatments such as haemopoietic stem cell transplantation and enzyme replacement therapy. Early and successful transplantation has dramatically improved long-term outcome and reduced anaesthetic complications in children with Hurler syndrome. Enzyme replacement therapy is available for many forms of mucopolysaccharidosis. If commenced at an early age improvement in many organ systems may be observed with an improved quality of life. However, these current treatment regimens do not appear to improve neurocognitive dysfunction, or cardiac valvular or skeletal abnormalities. We are now entering a third phase where the partial benefits of these treatment regimens are resulting in an increasing number of older patients with partially corrected abnormalities, including difficult airways, presenting for ongoing treatment to a new and potentially unsuspecting group of clinicians. Major airway abnormalities may be encountered and current adult guidelines may need to be adapted. A multidisciplinary team approach involving paediatric and adult anaesthetists is recommended to optimise future management.

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