Sixty-one patients treated with C1-2 transarticular screw fixation for spinal instability participated in a detailed clinical and radiological study to determine outcome and clarify potential hazards. The most common condition was rheumatoid arthritis (37 patients) followed by traumatic instability (15 patients). Twenty-one of these patients (one-third) underwent either surgical revision for a previously failed posterior fusion technique or a combined anteroposterior procedure. Eleven patients underwent transoral odontoidectomy and excision of the arch of C-1 prior to posterior surgery. No patient died, but there were five vertebral artery (VA) injuries and one temporary cranial nerve palsy. Screw malposition (14% of placements) was comparable to another large series reported by Grob, et al. There were five broken screws, and all were associated with incorrect placement. Anatomical measurements were made on 25 axis bones. In 20% the VA groove on one side was large enough to reduce the width of the C-2 pedicle, thus preventing the safe passage of a 3.5-mm diameter screw. In addition to the obvious dangers in patients with damaged or deficient atlantoaxial lateral mass, the following risk factors were identified in this series: 1) incomplete reduction prior to screw placement, accounting for two-thirds of screw complications and all five VA injuries; 2) previous transoral surgery with removal of the anterior tubercle or the arch of the atlas, thus obliterating an important fluoroscopic landmark; and 3) failure to appreciate the size of the VA in the axis pedicle and lateral mass. A low trajectory with screw placement below the atlas tubercle was found in patients with VA laceration. The technique that was associated with an 87% fusion rate requires detailed computerized tomography scanning prior to surgery, very careful attention to local anatomy, and nearly complete atlantoaxial reduction during surgery.

Purpose Diffuse intrinsic pontine glioma (DIPG) is a brainstem malignancy with a median survival of < 1 year. The International and European Society for Pediatric Oncology DIPG Registries collaborated to compare clinical, radiologic, and histomolecular characteristics between short-term survivors (STSs) and long-term survivors (LTSs). Materials and Methods Data abstracted from registry databases included patients from North America, Australia, Germany, Austria, Switzerland, the Netherlands, Italy, France, the United Kingdom, and Croatia. Results Among 1,130 pediatric and young adults with radiographically confirmed DIPG, 122 (11%) were excluded. Of the 1,008 remaining patients, 101 (10%) were LTSs (survival ≥ 2 years). Median survival time was 11 months (interquartile range, 7.5 to 16 months), and 1-, 2-, 3-, 4-, and 5-year survival rates were 42.3% (95% CI, 38.1% to 44.1%), 9.6% (95% CI, 7.8% to 11.3%), 4.3% (95% CI, 3.2% to 5.8%), 3.2% (95% CI, 2.4% to 4.6%), and 2.2% (95% CI, 1.4% to 3.4%), respectively. LTSs, compared with STSs, more commonly presented at age < 3 or > 10 years (11% v 3% and 33% v 23%, respectively; P < .001) and with longer symptom duration ( P < .001). STSs, compared with LTSs, more commonly presented with cranial nerve palsy (83% v 73%, respectively; P = .008), ring enhancement (38% v 23%, respectively; P = .007), necrosis (42% v 26%, respectively; P = .009), and extrapontine extension (92% v 86%, respectively; P = .04). LTSs more commonly received systemic therapy at diagnosis (88% v 75% for STSs; P = .005). Biopsies and autopsies were performed in 299 patients (30%) and 77 patients (10%), respectively; 181 tumors (48%) were molecularly characterized. LTSs were more likely to harbor a HIST1H3B mutation (odds ratio, 1.28; 95% CI, 1.1 to 1.5; P = .002). Conclusion We report clinical, radiologic, and molecular factors that correlate with survival in children and young adults with DIPG, which are important for risk stratification in future clinical trials.

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.

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed.

Posterior calvarial distraction is a safe and more efficient method of calvarial expansion than conventional techniques. These are early promising results, and future modification of the distraction devices will be needed if the effective consolidation time is to be increased.

Purpose: Approximately two-thirds of patients with the lysosomal storage disease mucopolysaccharidosis II have progressive cognitive impairment. Intravenous (i.v.) enzyme replacement therapy does not affect cognitive impairment because recombinant iduronate-2-sulfatase (idursulfase) does not penetrate the blood-brain barrier at therapeutic concentrations. We examined the safety of idursulfase formulated for intrathecal administration (idursulfase-IT) via intrathecal drug delivery device (IDDD). A secondary endpoint was change in concentration of glycosaminoglycans in cerebrospinal fluid. Methods:Sixteen cognitively impaired males with mucopolysaccharidosis II who were previously treated with weekly i.v. idursulfase 0.5 mg/ kg for ≥6 months were enrolled. Patients were randomized to no treatment or 10-mg, 30-mg, or 1-mg idursulfase-IT monthly for 6 months (four patients per group) while continuing i.v. idursulfase weekly. Results:No serious adverse events related to idursulfase-IT were observed. Surgical revision/removal of the IDDD was required in 6 of 12 patients. Twelve total doses were administrated by lumbar puncture. Mean cerebrospinal fluid glycosaminoglycan concentration was reduced by approximately 90% in the 10-mg and 30-mg groups and approximately 80% in the 1-mg group after 6 months. Conclusions:These preliminary data support further development of investigational idursulfase-IT in MPS II patients with the severe phenotype who have progressed only to a mild-to-moderate level of cognitive impairment.

The Pott puffy tumor is a subperiosteal abscess of the frontal bone that appears as a localized swelling of the overlying region of the forehead associated with frontal osteomyelitis. The authors report the case of an 11-year-old boy who presented with a 6-week history of frontal headaches and a recent sudden-onset, progressively enlarging swelling of his midline forehead associated with immediate relief of headaches. A computed tomography (CT) study revealed 1) a subperiosteal abscess with intracranial extension through the perforated posterior table of the frontal sinus and 2) a large epidural abscess overlying a compressed and narrowed superior sagittal sinus. Emergency surgical relief of the epidural abscess, curettage of the osteomyelitic bone, and excision of the periosteal granulomatous puffy lump were performed. A 6-week course of intravenous antibiotic medication was completed, and the patient had an excellent recovery. The Pott puffy tumor remains a serious complication of frontal sinusitis. In the past 5 years, the frequency of published pediatric cases has increased. Undiagnosed or partially treated frontal sinusitis may lead to this serious complication, and the apparent increase in incidence rate may suggest that this complication of frontal sinusitis could be underestimated in clinical practice. The authors conclude that early diagnosis and complete treatment of frontal sinusitis is crucial.

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