Vein of Galen Aneurysmal Malformation: A Case Report.

Vein of Galen aneurysmal malformation is a relatively rare disease in which failure of the median prosencephalic vein of Markowski to involute early in gestation leads to a grossly dilated deep cerebral vein with multiple arterial feeders, causing a large arteriovenous shunt which leads to high-output cardiac failure. We describe a case of a term neonate who presented to a tertiary neonatal centre on day one of life with history, symptoms, and signs consistent with perinatal asphyxia; however, in the context of worsening multi-organ dysfunction and cardiomegaly, the infant was found to have a severe vein of Galen aneurysmal dilatation leading to high-output cardiac failure. The patient was transferred to a tertiary paediatric hospital and underwent a total of four coiling procedures to embolise the multiple feeder arteries supplying the aneurysmal malformation. This case highlights the difficulties in diagnosing this relatively uncommon condition, particularly in the context of a possible perinatal insult.

Pediatric empyema: Are ultrasound characteristics at the time of intervention predictive of reintervention?

BACKGROUND: Parapneumonic effusions and empyema are the most frequent complication of pediatric pneumonia. Interventions include chest drain and fibrinolytics (CDF) or thoracoscopic surgery. CDF is considered less invasive, and more cost-effective though with higher rates of reintervention. We hypothesized that sonographic pleural fluid characteristics could identify cases at increased risk of reintervention following primary CDF. METHODS: A retrospective cohort of complicated pneumonia managed with primary CDF (2011-2018). Cases were reviewed using ultrasound criteria to describe pleural fluid. We analyzed the correlation between ultrasound findings and reintervention. RESULTS: We report 129 cases with a median age of 3.8 years and 44% female. A repeat intervention occurred for 24/129 (19%) cases. The interobserver reliability was moderate for the number of septations (κ 0.72, 95% CI [confidence interval]: 0.62-0.81), weak for the size of the largest locule (κ 0.55, 95% CI: 0.44-0.67), and minimal for the level of echogenicity (κ 0.24, 95% CI: 0.11-0.37), pleural thickening (κ 0.29, 95% CI: 0.17-0.42), maximum effusion depth (κ 0.37, 95% CI: 0.22-0.51), and radiologist's risk for reintervention (κ 0.34, 95% CI: 0.18-0.5). A repeat intervention was not associated with any objective sonographic variable. CONCLUSION: We report no association between ultrasound characteristics and repeat intervention for complicated pneumonia following primary CDF treatment. There was minimal interobserver agreement in reporting ultrasound characteristics despite more objective criteria. Clinicians rely on ultrasound findings to support decisions around intervention in pediatric empyema. This study does not support relying on ultrasound to estimate the likelihood of reintervention.

Avoiding blindness in managing epistaxis for a child with Duane's Retraction Syndrome.

Duane's Retraction Syndrome (DRS), a congenital cranial dysinnervation disorder, accounts for 5% of all strabismus. A vascular anomaly in DRS, which became clinically relevant in the context of significant epistaxis, is presented. A 15-year-old girl with DRS underwent a rhinological procedure for traumatic nasal deformity and suffered large volume epistaxis. Using angiography, an anatomical variation was identified, noting the ophthalmic artery was supplied by branches from the sphenopalatine artery, facial artery, and middle meningeal artery; not from the internal carotid artery. Hence epistaxis control was achieved via alternative methods, and unilateral blindness was avoided.

NHS commissioning in probation in England - on a wing and a prayer.

National guidance in England exhorts Clinical Commissioning Groups [groups of general practices established to organise delivery of National Health Service (NHS) care in their local area (CCGs)] to commission healthcare for those living in the community who are serving non-custodial sentences called 'community orders'. This includes 'approved premises' - accommodation providing enhanced supervision for offenders and individuals on bail who may present a high risk of harm to the public. In this national survey of CCGs in England, we compared the extent to which healthcare services were commissioned for probationers in 2014 with similar data we collected in 2013. A freedom of information (FOI) request was sent to all CCGs (n = 212) and Mental Health Trusts (organisations commissioned to provide health and social care services to individuals with mental health disorders) (n = 53) in England. Mental Health Trusts were included as they were known to fund mental health services for probation as part of their block funding allocations. A small number of basic questions were asked. The response rate was good with 65% of CCGs (n = 137) and 68% (n = 36) of Mental Health Trusts responding. The findings show that the proportion of CCGs commissioning healthcare for probation reduced from 7% to 1%, with 20% of CCGs stating that funding healthcare for this group was the responsibility of the NHS England Area Teams. There was also a reduction in the proportion of Mental Health Trusts funding healthcare for probation but from a much higher baseline, that is from 70% to 61%. The prevalence of mental health disorders in probation is high, so it was of concern that only 12% of Mental Health Trusts provided a service to support approved premises and just 32% provided clinics in probation. The results are discussed within the context of the NHS reforms and the government's plans in England to reform probation.

Vein of Galen aneurysm.

BACKGROUND: AV malformation of the vein of Galen, also known as vein of Galen aneurysm, is an intracranial anomaly characterised by a midline, high flow lesion with a complex vascular architecture. It compromises less than 1% of all cerebral arteriovenous malformations seen in adults and children. Timely diagnosis of the malformation is of importance particularly during the perinatal period due to the large systemic shunting within the fetal brain potentially leading to cardiac failure, hydrops and perinatal death. METHOD: Case Report: In this report, we present a case that had an increased nuchal translucency of 6 mm at 12 weeks gestation (karyotype normal), nuchal oedema of 12 mm noted at morphology scan and subsequently diagnosed with vein of Galen malformation at 32 weeks on a follow up scan. It was evaluated further with 3D power Doppler imaging modality. 3D power Doppler imaging provided us with improved images of the malformation in utero which was helpful for characterising the vascular anatomic features of the lesion before planned delivery and neonatal treatment. RESULTS: The patient was followed up with antenatal ultrasounds. There was no evidence of hydrops. She delivered a live healthy infant weighing 2.8 kg by elective caesarean section at 39 weeks. The child is now five and half years old and has undergone embolisation twice. CONCLUSION: We present a case illustrating use of Power Doppler imaging in a vein of Galen malformation. Prenatal diagnosis and endovascular treatment in the early neonatal period is important in preventing heart failure and resultant mortality in vein of Galen aneurysm.

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.

Vascular anomalies represent a spectrum of disorders from a simple "birthmark" to life- threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced by patients with these anomalies. Accurate diagnosis is crucial for appropriate evaluation and management, often requiring multidisciplinary specialists. Classification schemes provide a consistent terminology and serve as a guide for pathologists, clinicians, and researchers. One of the goals of the International Society for the Study of Vascular Anomalies (ISSVA) is to achieve a uniform classification. The last classification (1997) stratified vascular lesions into vascular malformations and proliferative vascular lesions (tumors). However, additional disease entities have since been identified that are complex and less easily classified by generic headings, such as capillary malformation, venous malformation, lymphatic malformation, etc. We hereby present the updated official ISSVA classification of vascular anomalies. The general biological scheme of the classification is retained. The section on tumors has been expanded and lists the main recognized vascular tumors, classified as benign, locally aggressive or borderline, and malignant. A list of well-defined diseases is included under each generic heading in the "Simple Vascular Malformations" section. A short definition is added for eponyms. Two new sections were created: one dealing with the malformations of individually named vessels (previously referred to as "truncular" malformations); the second groups lesions of uncertain or debated nature (tumor versus malformation). The known genetic defects underlying vascular anomalies are included in an appendix. This classification is meant to be a framework, acknowledging that it will require modification as new scientific information becomes available.

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up.

Pulmonary embolism in children.

Unlike in adults, pulmonary embolism (PE) is an infrequent event in children. It has a marked bimodal distribution during the paediatric years, occurring predominantly in neonates and adolescents. The most important predisposing factors to PE in children are the presence of a central venous line (CVL), infection, and congenital heart disease. Clinical signs of PE are non-specific in children or can be masked by underlying conditions. Diagnostic testing is necessary in children, especially with the lack of clinical prediction rules. Recommendations for tests are derived from adult studies with ventilation/perfusion (V/Q) scintigraphy being well established. There exists an increasing role for computerised tomography pulmonary angiography (CTPA) and magnetic resonance pulmonary angiography (MRPA). Thrombotic events in children are initially treated with unfractionated heparin (UFH) or low molecular weight heparin (LMWH). For the extended anticoagulant therapy LMWH or vitamin K antagonists can be used with duration of treatment recommendations extrapolated from adult data. Mortality rates for PE in children are reported to be around 10%, with death usually related to the underlying disease processes. Exact data about recurrence risk in children is unknown. Because of the difference in aetiology, presentation, diagnostic methods and treatment between adults and children further research is necessary to assess the validity of recommendations for children.

The practice of pediatric interventional radiology.

There is a stark contrast between adult and pediatric interventional radiology practice. The essential elements of this all relate to working with children, including a need for greater procedural sedation and anesthesia; the psychology of working with children and their families; a skill set based around smaller bodies; and technology for smaller and growing humans. Interventional radiology departments that cater to children need to accommodate these factors so that sick children can access minimally invasive image-guided therapy in a safe and nonthreatening environment.

Embolization in neonates and infants.

Several conditions presenting in the neonatal and infant period benefit from embolization, including hemangioma, vascular shunts, and tumors. The physiological delicacy and small size of newborns create distinct challenges. This paper discusses embolization of these patients and illustrates the techniques involved.

Biliary strictures and hepatic artery flow abnormalities in split liver transplants.

The aim of this study was to examine the role of HA flow abnormalities in the development of biliary strictures following split liver transplants. Data was obtained from a prospective data base of all patients undergoing split liver transplants from 2000-2008 with a follow up time of at least six months. Forty-six transplants were performed in 44 patients. Fourteen of 46 developed strictures of whom four were intrahepatic and 10 anastomotic. Nine of 14 with strictures had either hepatic artery thromobosis (HAT, four) or abnormalities of HA flow identified by routine Doppler ultrasound (5) compared with two of 32 without strictures (p < 0.02, (one temporary loss of flow and one HA aneurysm). There were no differences between the stricture and non stricture group with regard to age or weight at transplant, donor age, cold and warm ischemia times or intraoperative portal vein flow though there was a significant decrease in intraoperative HA flow in the stricture group. In conclusion, both HAT and hepatic artery flow abnormalities are associated with biliary strictures in the majority of split liver transplants. However, unrecognised abnormalities in HA flow and or other factors are likely to contribute.

Percutaneous sclerotherapy of lymphatic malformations with doxycycline.

BACKGROUND: Lymphatic malformations (LMs) can be effectively treated by percutaneous intralesional injection of a variety of sclerosant drugs. This study aims to evaluate the efficacy of doxycycline in the treatment of LMs. METHODS AND RESULTS: We reviewed the medical records of all patients with LMs who underwent sclerotherapy with doxycycline between January 1, 2003 and September 1, 2004 at Children's Hospital Boston. Follow-up imaging was performed to assess for change in lesion size. Surveys were sent to all study patients, to assess perceived improvements in symptoms and satisfaction with the results. Sixty sclerotherapy procedures were performed on 41 patients in the 20-month study period. The median age was 6.9 years (3 mo-31 y). The most common location was cervicofacial (66%), followed by truncal (19%) and extremity (15%). The most common lesion type was macrocystic (49%), followed by combined (44%) and microcystic (7%). The major and minor complication rates were 2% and 10%, respectively. The mean outcome score by imaging was 4.41/5 with a 95% CI of [4.13-4.68] corresponding to about an 83% reduction in lesion size, and by patient survey was 4.47/5 with a 95% CI of [4.15-4.79] corresponding to between a good to complete response. Higher complication rates were associated with microcystic and combined lesions (p = 0.03), and greater doxycycline dose (p = 0.05). CONCLUSIONS: Doxycycline is a safe and effective sclerosant for LMs. Greater follow-up is necessary to quantify long-term outcomes and assess the risks of lesion recurrence.

Intensive care experience with sclerotherapy for cervicofacial lymphatic malformations.

OBJECTIVE: To describe a cohort of patients needing intensive care support after sclerotherapy for cervicofacial lymphatic malformations. DESIGN: Retrospective review of case records of patients undergoing sclerotherapy between January 2004 and November 2006. SETTING: A tertiary, university-affiliated, pediatric teaching hospital. PATIENTS: Five patients needing admission to a pediatric intensive care unit (PICU) following sclerotherapy with OK432. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Five patients needed a total of 13 PICU admissions. Ages ranged from 4 months to 19 months. All patients had extensive lesions that involved the airways, mediastinum, or floor of the mouth, documented by magnetic resonance imaging. Nine admissions involved elective intubation and ventilation following sclerotherapy due to the extent of lesions. There were four urgent admissions to the PICU with respiratory distress ranging from 3 to 18 days after sclerotherapy. The mean duration of admission was 7 days (total 93 days, range 2-22 days). Total ventilated hours were 1656 hrs with a range of 16.5-370 hrs per admission. Multiple procedures, such as drainage of cysts and further sclerotherapy procedures, were performed before extubation on the PICU. CONCLUSIONS: Children with extensive disease and airway involvement need multiple PICU admissions. The potential for life-threatening respiratory embarrassment is unpredictable following sclerotherapy. Consideration should be given to performing further sclerotherapy while the patients are intubated in the PICU. The PICU provides a safe and secure environment for such procedures.

Post-liver transplant mycotic aneurysm of the hepatic artery.

BACKGROUND: Mycotic aneurysm of the hepatic artery is a rare complication of liver transplantation, occurring in 0% to 3% of patients and having a mortality of around 30%. We present a unique report of mycotic aneurysms of the hepatic artery following liver transplantation in children. METHODS AND RESULTS: A chart review of the 194 patients who underwent a liver transplantation over a 21-year period revealed 2 patients who developed a mycotic aneurysm of the hepatic artery. The first patient died due to rupture prior to diagnosis. The second patient was treated successfully using radiological coil embolization, followed by surgical excision with hepatic artery ligation and antibiotic therapy. CONCLUSIONS: Early diagnosis and prompt multidisciplinary treatment is crucial to optimize treatment in this condition.

Case report: consumptive hypothyroidism consequent to multiple infantile hepatic haemangiomas.

A 10-month-old infant with multiple infantile hepatic hemangiomas and developmental delay is reported. He was found to be profoundly hypothyroid. Evaluation and management issues are discussed. This case emphasizes the importance of screening for hypothyroidism in patients with hemangiomas and the potential therapeutic benefit of prednisolone therapy in this condition.