Imaging of juvenile spinal disorders.

The growing spine is under excessive stresses during pubertal growth. There are specific pathologies, such as posterior ring apophyseal fractures, spondylolysis, and Hirayama's disease, which are primarily encountered in this subset of patients. Pain and deformity remain the common clinical presentations of these disorders. Imaging plays a vital role in elucidating the radiological manifestations of these unusual pathologies and in their subsequent management.

The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008-2012.

This report summarizes the establishment of the first national online registry of primary immune deficency in the United Kingdom, the United Kingdom Primary Immunodeficiency (UKPID Registry). This UKPID Registry is based on the European Society for Immune Deficiency (ESID) registry platform, hosted on servers at the Royal Free site of University College, London. It is accessible to users through the website of the United Kingdom Primary Immunodeficiency Network (www.ukpin.org.uk). Twenty-seven centres in the United Kingdom are actively contributing data, with an additional nine centres completing their ethical and governance approvals to participate. This indicates that 36 of 38 (95%) of recognized centres in the United Kingdom have engaged with this project. To date, 2229 patients have been enrolled, with a notable increasing rate of recruitment in the past 12 months. Data are presented on the range of diagnoses recorded, estimated minimum disease prevalence, geographical distribution of patients across the United Kingdom, age at presentation, diagnostic delay, treatment modalities used and evidence of their monitoring and effectiveness.

A UK national audit of hereditary and acquired angioedema.

Hereditary angioedema (HAE) and acquired angioedema (AAE) are rare life-threatening conditions caused by deficiency of C1 inhibitor (C1INH). Both are characterized by recurrent unpredictable episodes of mucosal swelling involving three main areas: the skin, gastrointestinal tract and larynx. Swelling in the gastrointestinal tract results in abdominal pain and vomiting, while swelling in the larynx may be fatal. There are limited UK data on these patients to help improve practice and understand more clearly the burden of disease. An audit tool was designed, informed by the published UK consensus document and clinical practice, and sent to clinicians involved in the care of HAE patients through a number of national organizations. Data sets on 376 patients were received from 14 centres in England, Scotland and Wales. There were 55 deaths from HAE in 33 families, emphasizing the potentially lethal nature of this disease. These data also show that there is a significant diagnostic delay of on average 10 years for type I HAE, 18 years for type II HAE and 5 years for AAE. For HAE the average annual frequency of swellings per patient affecting the periphery was eight, abdomen 5 and airway 0·5, with wide individual variation. The impact on quality of life was rated as moderate or severe by 37% of adult patients. The audit has helped to define the burden of disease in the UK and has aided planning new treatments for UK patients.

Dumbbell ganglioneuroma mimicking lumbar neurofibroma: a case report and review of the literature.

Spinal ganglioneuromas may grow in a dumbbell fashion. We report the first case of an intradural, extramedullary ganglioneuroma in the lumbar spine and review the pertinent literature. Although rare, we propose that ganglioneuroma be considered a differential diagnosis in patients presenting with a large mass occupying both intraspinal and extraspinal compartments.

Association between hypoparathyroidism and defective T cell immunity in 22q11.2 deletion syndrome.

AIMS: Although poor thymic function leading to viral and fungal infections can be a feature of chromosome 22q11.2 deletion syndrome, most patients have relatively normal immunity. The aim of this study was to investigate which clinical and laboratory parameters best predict the likelihood of serious or recurrent infections in patients with this syndrome. METHODS: Clinical and laboratory parameters from 64 patients with 22q11.2 deletion syndrome referred to two immunology centres in the north of England were studied retrospectively. RESULTS: 31 (48%) patients had no problems with infection, 21 (33%) had bacterial infections, and 12 (19%) had recurrent or persistent thrush and/or viral enteritis and bronchiolitis, the latter suggestive of a significant T cell immunodeficiency. Patients with a history of thrush/viral infections, but not those with bacterial infections, had significantly lower CD4+ and CD8+ T lymphocyte numbers (relative risk (95% CI) 0.3 (0.1 to 0.8)) and phytohaemagglutinin mitogen responses (0.4 (0.2 to 0.8)) adjusted for age at testing. Hypoparathyroidism was associated with low T lymphocyte numbers and function (p<0.05) as well as an increased risk of thrush/viral infections (p<0.0001) after adjusting for age at testing. CONCLUSIONS: 22q11.2 syndrome patients with hypoparathyroidism are more likely to have a clinically significant T cell immunodeficiency and lower laboratory parameters of T cell function, with a higher risk of thrush and viral bronchiolitis and enteritis. Measurement of absolute CD3 count is a simple and accurate predictor of fungal/viral infection risk, with phytohaemagglutinin mitogen responses providing little or no further value in most patients.

Minimally invasive decompression and stabilisation for extensive haemangiomas of lumbar spine.

INTRODUCTION: Vertebral haemangiomas are a common incidental finding and are largely asymptomatic. Extensive haemangiomas of the spine causing neurological deficits are exceedingly rare. Traditional open surgical approaches in these cases can be complicated by life-threatening blood loss. PATIENT CASE HISTORY: We describe 2 patients (ages 27 and 53 years) who presented with severe back pain and lower limb weakness. Radiological investigations revealed very extensive lesions of the L1 and L4 vertebral bodies, respectively, with severe narrowing of the lumbar canal. After selective embolisation of the spinal arterial feeders, both patients underwent a posterior decompression, vertebroplasty, and bilateral pedicle screw fixation in a minimally invasive fashion. Blood loss was minimal and a rapid clinical recovery was seen. CONCLUSIONS: Combinations of embolisation, vertebroplasty and minimally invasive posterolateral instrumentation are treatment strategies that can be used to treat extensive vertebral haemangiomas presenting with neurological deficits.

Anaphylaxis to the chlorhexidine component of Instillagel: a case series.

Anaphylaxis to chlorhexidine is rare. We report three cases of anaphylaxis attributed to the chlorhexidine component of Instillagel, presenting after urological surgery, while the patients were in the recovery room. In these cases, the cause of the collapse was not immediately obvious as the presentation was delayed. Anaesthetists should be aware that urethral lubricants may contain chlorhexidine that can trigger anaphylaxis in susceptible individuals. Anaphylaxis should be considered a possible diagnosis when a patient collapses in the recovery room. Investigation of suspected anaphylactic reactions related to anaesthesia is important to try and identify a likely trigger for a reaction and to help prevent further exposure and potential harm.

Dumbbell-shaped intrathoracic-extradural haemangioma of the thoracic spine.

Spinal haemangiomas are benign vasoproliferative lesions that are typically intra-osseous and generally asymptomatic, although localized pain can be a symptom. Capillary and cavernous variants have been described. We describe a rare case of a dumbbell-shaped haemangioma of the thoracic spine with both an intraspinal-extradural and intrathoracic component.

Successful reversal of threatening carotid artery occlusion in HIV-associated non-aneurysmal vasculitis.

We report a case of HIV-associated carotid vasculitis, causing cerebral infarction. Immediate corticosteroid treatment was followed by improvement, with radiological documentation of reversal of the vasculitic changes, preventing arterial occlusion. Vasculitis should be considered as a diagnosis in stroke in HIV and steroid treatment considered as a potentially life-saving intervention.

Follow-up of intracranial aneurysms treated with matrix detachable coils: a single-center experience.

BACKGROUND AND PURPOSE: Matrix coils are polymer-coated bioactive coils used in treatment of intracranial aneurysms. The current study is aimed at evaluating the efficacy and safety of these coils in treatment of ruptured and unruptured aneurysms. METHODS: Seventy-seven consecutive patients with 84 aneurysms were included in the study. Forty-six aneurysms were treated with Matrix coils alone, and 38 were treated with Matrix coils in combination with other coils/devices. Angiographic follow-up was available in 64 patients with 70 aneurysms. Length of follow-up ranged from 6 to 28 months with mean of 10 months. Both postembolization and follow-up angiograms were graded on a 3-point Raymond scale. Aneurysms were classified as stable, improved, or recanalized based on the follow-up angiograms. Recanalization was considered major if it was saccular and its size would theoretically permit retreatment with coils. RESULTS: At the end of the initial procedure, 47 (56.0%) aneurysms showed complete occlusion (Raymond 1), 20 (23.8%) showed contrast filling the neck of the aneurysm (Raymond 2), and 16 (19.0%) showed contrast filling the sac of the aneurysm (Raymond 3). Of the 70 aneurysms in which follow-up angiograms were available, 55.7% remained stable in appearance, 20.0% showed improved occlusion, and 24.3% demonstrated recanalization; 8.6% demonstrated major recanalization. There were 2 aneurysm rebleeds (both incompletely packed); one resulted in death. CONCLUSION: Matrix coils are safe to use and the recanalization rate of aneurysms treated with these coils appears to be at least comparable with historical studies with Guglielmi detachable coils.

Thoracic intradural extramedullary capillary haemangioma.

The authors report a rare case of thoracic intradural extramedullary capillary haemangioma, the clinical presentation of which was similar to any other intraspinal mass. Magnetic resonance imaging does not always distinguish this entity from others, but the presence of enlarged vasculature is often a useful clue. Complete resection is the treatment of choice of this hamartomatous lesion.

A case of carotid rete mirabile associated with basilar tip aneurysm.

SUMMARY: Carotid rete mirabile (CRM) is a rare condition consisting of a physiological network between the external and internal carotid arteries in lower vertebrates. Only a few cases have been reported in humans presenting as hemorrhagic or ischemic cerebrovascular disorder. We present a case of CRM presenting as an aneurysmal subarachnoid hemorrhage and discuss the embryologic, anatomic, hemodynamic and clinical significance of this rare entity.

Proximal migration of a lumboperitoneal unishunt system.

Proximal migration of a lumboperitoneal (LP) shunt is a rare complication associated with unishunt systems. We report three cases with a hypothesis that raised intra-abdominal pressure may be a factor responsible for the proximal migration of a LP unishunt. A rare case of proximal migration of LP shunt into the quadrigeminal cistern is also reported.

Use of neuroform stent in a patient with acute stroke caused by spontaneous petrous segment internal carotid artery dissection: a case report.

SUMMARY: Neuroform stents have been recently introduced for treatment of broad-necked intracranial aneurysms. Several studies have demonstrated the feasibility of deployment of Neuroform stents (Boston Scientific Target, USA) in intracranial circulation. We report a case of a patient presenting with acute stroke due to occlusive petrous segment internal carotid artery dissection who was treated with a Neuroform stent.

A case of superficial recurrent ophthalmic artery supplying an infratentorial vascular tumour.

SUMMARY: We present a case of ophthalmic artery contribution to a posterior fossa vascular tumour by the superficial recurrent ophthalmic artery. This branch arises from the second portion of the ophthalmic artery and is rarely seen on angiography. We review the anatomy and embryology of this arterial variant. Furthermore, this case illustrates the capacity of the ophthalmic artery to supply posterior fossa neoplasms.