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Transorbital penetration accounts for one-quarter of the penetrating head injuries (PHIs) in adults and half of those in children. Injuries that traverse (with complete penetration of) the brainstem are often fatal, with survivors rarely seen in clinical practice. Here, the authors describe the case of a 16-year-old male who suffered and recovered from an accidental transorbital PHI traversing the brainstem—the first case of complete neurological recovery following such injury. Neuroimaging captured the trajectory of the initial injury. A delayed-onset carotid cavernous fistula and the subsequent development of internal carotid artery pseudoaneurysms were managed by endovascular embolization.The authors also review the relevant literature. Sixteen cases of imaging-confirmed PHI traversing the brainstem have been reported, 14 involving the pons and 12 penetrating via the transorbital route. Management and outcome of PHI are informed by object velocity, material, entry point, trajectory, relationship to neurovascular structures, and the presence of a retained foreign body. Trauma resuscitation is followed by a careful neurological examination and appropriate neuroimaging. Ophthalmological examination is performed if transorbital penetration is suspected, as injuries may be occult; the potential for neurovascular complications highlights the value of angiography. The featured case shows that complete recovery is possible following injury that traverses the brainstem.

Most psychiatric disorders emerge in the second decade of life. In the present study, we examined whether environmental adversity, developmental antecedents, major depressive disorder, and functional impairment correlate with deviation from normative brain development in adolescence.We trained a brain age prediction model using 189 structural magnetic resonance imaging brain features in 1299 typically developing adolescents (age range 9-19 years, mean = 13.5, SD = 3.04), validated the model in a holdout set of 322 adolescents (mean = 13.5, SD = 3.07), and used it to predict age in an independent risk-enriched cohort of 150 adolescents (mean = 13.6, SD = 2.82). We tested associations between the brain age gap and adversity, early antecedents, depression, and functional impairment.We accurately predicted chronological age in typically developing adolescents (mean absolute error = 1.53 years). The model generalized to the validation set (mean absolute error = 1.55 years, 1.98 bias adjusted) and to the independent at-risk sample (mean absolute error = 1.49 years, 1.86 bias adjusted). The brain age estimate was reliable in repeated scans (intraclass correlation = 0.94). Experience of environmental adversity (β = 0.18; 95% CI, 0.04 to 0.31; p = .02), diagnosis of major depressive disorder (β = 0.61; 95% CI, 0.23 to 0.99; p = .01), and functional impairment (β = 0.16; 95% CI, 0.05 to 0.27; p = .01) were associated with a positive brain age gap.Risk factors, diagnosis, and impact of mental illness are associated with an older-appearing brain during development.

We report the case of a patient with subarachnoid hemorrhage and three aneurysms arising from the posterior communicating artery (Pcomm)-P1 complex, treated with endovascular coiling and competitive flow diversion. The largest and likely ruptured Pcomm aneurysm was treated with traditional coiling. Two smaller potentially ruptured aneurysms arose from the distal right posterior cerebral artery (PCA) P1 segment. After a failed attempt to treat with conventional flow diversion across the PCA-P1 segment, the P1 aneurysms were successfully treated with competitive flow diversion distal to the PCA-P1 segment from Pcomm to the P2 segment. Over 12 months, competitive flow diversion redirected flow to the right PCA territory via the internal carotid artery-Pcomm-P2, reducing the size of the PCA-P1 segment and obliterating the P1 aneurysms. Competitive flow diversion treatment should be considered for aneurysms occurring at the circle of Willis when traditional methods are not feasible. Herein, we introduce a novel classification for competitive flow diversion treatment.

Introduction A new generation of large‐scale studies is using neuroimaging to investigate adolescent brain development across health and disease. However, imaging artifacts such as head motion remain a challenge and may be exacerbated in pediatric clinical samples. In this study, we assessed the scan–rescan reliability of multimodal MRI in a sample of youth enriched for risk of mental illness. Methods We obtained repeated MRI scans, an average of 2.7 ± 1.4 weeks apart, from 50 youth (mean age 14.7 years, SD = 4.4). Half of the sample (52%) had a diagnosis of an anxiety disorder; 22% had attention‐deficit/hyperactivity disorder (ADHD). We quantified reliability with the test–retest intraclass correlation coefficient (ICC). Results Gray matter measurements were highly reliable with mean ICCs as follows: cortical volume (ICC = 0.90), cortical surface area (ICC = 0.89), cortical thickness (ICC = 0.82), and local gyrification index (ICC = 0.85). White matter volume reliability was excellent (ICC = 0.98). Diffusion tensor imaging (DTI) components were also highly reliable. Fractional anisotropy was most consistently measured (ICC = 0.88), followed by radial diffusivity (ICC = 0.84), mean diffusivity (ICC = 0.81), and axial diffusivity (ICC = 0.78). We also observed regional variability in reconstruction, with some brain structures less reliably reconstructed than others. Conclusions Overall, we showed that developmental MRI measures are highly reliable, even in youth at risk for mental illness and those already affected by anxiety and neurodevelopmental disorders. Yet, caution is warranted if patterns of results cluster within regions of lower reliability., Developmental MRI measures are highly reliable, even in youth at risk for mental illness and those already affected by anxiety and neurodevelopmental disorders. Yet, caution is warranted if patterns of results cluster within regions of lower reliability.

Purpose We performed an exploratory analysis of electroencephalography (EEG) and neuroimaging data from a cohort of 51 patients with first seizure (FS) and new-onset epilepsy (NOE) to identify variables, or combinations of variables, that might discriminate between clinical trajectories over a one-year period and yield potential biomarkers of epileptogenesis. Methods Patients underwent EEG, hippocampal and whole brain structural magnetic resonance imaging (MRI), diffusion tensor imaging (DTI), and magnetic resonance spectroscopy (MRS) within six weeks of the index seizure, and repeat neuroimaging one year later. We classified patients with FS as having had a single seizure (FS-SS) or having converted to epilepsy (FS-CON) after one year and performed logistic regression to identify combinations of variables that might discriminate between FS-SS and FS-CON, and between FS-SS and the combined group FS-CON + NOE. We performed paired t-tests to assess changes in quantitative variables over time. Results Several combinations of variables derived from hippocampal structural MRI, DTI, and MRS provided excellent discrimination between FS-SS and FS-CON in our sample, with areas under the receiver operating curve (AUROC) ranging from 0.924 to 1. They also provided excellent discrimination between FS-SS and the combined group FS-CON + NOE in our sample, with AUROC ranging from 0.902 to 1. After one year, hippocampal fractional anisotropy (FA) increased bilaterally, hippocampal radial diffusivity (RD) decreased on the side with the larger initial measurement, and whole brain axial diffusivity (AD) increased in patients with FS-SS; hippocampal volume decreased on the side with the larger initial measurement, hippocampal FA increased bilaterally, hippocampal RD decreased bilaterally and whole brain AD, FA and mean diffusivity increased in the combined group FS-CON + NOE (corrected threshold for significance, q = 0.017). Conclusion We propose a prospective, multicenter study to develop and test models for the prediction of seizure recurrence in patients after a first seizure, based on hippocampal neuroimaging. Further longitudinal neuroimaging studies in patients with a first seizure and new-onset epilepsy may provide clues to the microstructural changes occurring at the earliest stages of epilepsy and yield biomarkers of epileptogenesis.

The primary goal of neuroimaging in a first, unprovoked seizure is to identify a lesion that can explain the seizure. Secondarily, neuroimaging may be used to predict seizure recurrence and assist with the diagnosis of epilepsy. However, the events leading from a first seizure to epilepsy, with or without an identifiable epileptogenic lesion, are not well understood, and it is not always clear which lesions are epileptogenic as opposed to incidental. Much neuroimaging research to date has focused on findings in chronic epilepsy, rather than first seizure. Dedicated epilepsy imaging with high quality MRI protocols maximizes the likelihood of a diagnosis. However, a significant proportion of patients are MRI-negative, prompting researchers in the field to continue the search for better imaging strategies. Here we describe the role of neuroimaging in the assessment of a first seizure, the current state of the art and possible future directions.

BACKGROUND: Cortical folding is essential for healthy brain development. Previous studies have found regional reductions in cortical folding in adult patients with psychotic illness. It is unknown whether these neuroanatomical markers are present in youth with subclinical psychotic symptoms. METHODS: We collected MRIs and examined the local gyrification index in a sample of 110 youth (mean age ± standard deviation 14.0 ± 3.7 yr; range 9–25 yr) with a family history of severe mental illness: 48 with psychotic symptoms and 62 without. Images were processed using the Human Connectome Pipeline and FreeSurfer. We tested for group differences in local gyrification index using mixed-effects generalized linear models controlling for age, sex and familial clustering. Sensitivity analysis further controlled for intracranial volume, IQ, and stimulant and cannabis use. RESULTS: Youth with psychotic symptoms displayed an overall trend toward lower cortical folding across all brain regions. After adjusting for multiple comparisons and confounders, regional reductions were localized to the frontal and occipital lobes. Specifically, the medial (B = −0.42, p(FDR) = 0.04) and lateral (B = −0.39, p(FDR) = 0.04) orbitofrontal cortices as well as the cuneus (B = −0.47, p(FDR) = 0.03) and the pericalcarine (B = −0.45, p(FDR) = 0.03) and lingual (B = −0.38, p(FDR) = 0.04) gyri. LIMITATIONS: Inference about developmental trajectories was limited by the cross-sectional data. CONCLUSION: Psychotic symptoms in youth are associated with cortical folding deficits, even in the absence of psychotic illness. The current study helps clarify the neurodevelopmental basis of psychosis at an early stage, before medication, drug use and other confounds have had a persistent effect on the brain.

We report the case of a patient with subarachnoid hemorrhage and three aneurysms arising from the posterior communicating artery (Pcomm)-P1 complex, treated with endovascular coiling and competitive flow diversion. The largest and likely ruptured Pcomm aneurysm was treated with traditional coiling. Two smaller potentially ruptured aneurysms arose from the distal right posterior cerebral artery (PCA) P1 segment. After a failed attempt to treat with conventional flow diversion across the PCA-P1 segment, the P1 aneurysms were successfully treated with competitive flow diversion distal to the PCA-P1 segment from Pcomm to the P2 segment. Over 12 months, competitive flow diversion redirected flow to the right PCA territory via the internal carotid artery-Pcomm-P2, reducing the size of the PCA-P1 segment and obliterating the P1 aneurysms. Competitive flow diversion treatment should be considered for aneurysms occurring at the circle of Willis when traditional methods are not feasible. Herein, we introduce a novel classification for competitive flow diversion treatment.

Background: The Brain Atrophy and Lesion Index (BALI), a semi-quantitative rating scale, has been developed to evaluate whole brain structural changes in aging and Alzheimer’s disease (AD). Objective: This study describes a standard procedure to score the BALI and train new raters for reliable BALI evaluation following this procedure. Methods: Structural MRI of subjects in the Alzheimer’s Disease Neuroimaging Initiative dataset who had 3.0T, T1, and T2 weighted MRI scans at baseline and at 6, 12, and 24 month follow-ups were retrieved (n = 122, including 24 AD, 51 mild cognitive impairment patients, and 47 healthy control subjects). Images were evaluated by four raters following training with a step-by-step BALI process. Seven domains of structural brain changes were evaluated, and a total score was calculated as the sum of the sub-scores. Results: New raters achieved >90% accuracy after two weeks of training. Reliability was shown in both intra-rater correlation coefficients (ICC ≥ 0.92, p < 0.001) and inter-rater correlation coefficients (ICC ≥0.88, p < 0.001). Mean BALI total scores differed by diagnosis (F ≥ 2.69, p ≤ 0.049) and increased consistently over two years. Conclusion: The BALI can be introduced using a standard procedure that allows new users to achieve highly reliable evaluation of structural brain changes. This can advance its potential as a robust method for assessing global brain health in aging, AD, and mild cognitive impairment.

Twenty percent to 49% of newly treated patients with epilepsy will develop pharmacoresistance (PR). The mechanisms leading to PR are unclear. There is currently no unifying theory to explain the variety of presentations of PR and the diversity of potential contributing factors. Etiology of seizures seems to play a critical role in at least a subset of PR. Many magnetic resonance imaging (MRI) studies in the advanced stages of epilepsy suggest a strong association between lesions such as hippocampal sclerosis and focal cortical dysplasia and PR. Unfortunately, almost all of these studies are cross-sectional and retrospective. There is a need for a new perspective on the role of preexisting lesions in the evolution of epilepsy and PR. We propose in this article to study a unique population of drug-naive patients with either first seizure or new-onset epilepsy longitudinally with advanced MRI imaging techniques, including magnetic resonance spectroscopy and diffusion tensor imaging. We hope to be able to monitor imaging findings and the development of PR early in the course of the disease in a subset of these patients with temporal lobe epilepsy (TLE). Our goal is to understand the pathogenesis of PR, to dissect changes associated with the development of PR from changes associated with chronic seizures and medication, and ultimately to predict PR at the onset of disease.

Hydrocephalus, characterized by increased fluid in the cerebral ventricles, is traditionally evaluated by a visual assessment of serial CT scans. The complex shape of the ventricular system makes accurate visual comparison of CT scans difficult. The current research developed a quantitative method to measure the change in cerebral ventricular volume over time. Key elements of the developed framework are: adaptive image registration based on mutual information and wavelet multiresolution analysis; adaptive segmentation with novel feature extraction based on the Dual-Tree Complex Wavelet Transform; volume calculation. The framework, when tested on physical phantoms, had an error of 2.3%. When validated on clinical cases, results showed that cases deemed to be normal/stable had a calculated volume change less than 5%. Those with progressive/treated hydrocephalus had a calculated change greater than 20%. These findings indicate that the framework is reasonable and has potential for development as a tool in the evaluation of hydrocephalus.

Francisella philomiragiais a rare and opportunistic pathogen capable of producing invasive infection in patients with compromised neutrophil function and in patients that have survived a near-drowning. A case ofF philomiragiaadenitis and lung nodules, refractory to cephalosporin therapy, is reported in a 10-year-old boy with chronic granulomatous disease following a facial abrasion from a saltwater crab. To the authors' knowledge, this is the first Canadian clinical isolate to be reported. Genus and species identification was confirmed via 16S ribosomal RNA sequence analysis. A literature review revealed three groups at risk ofF philomiragiainfection: young patients with chronic granulomatous disease; adults with hematogenous malignancy; and near-drowning patients. Pneumonia, fever without an apparent source and sepsis are the main clinical presentations. Invasive procedures may be required to isolate this organism and ensure appropriate antimicrobial therapy. Limited awareness ofF philomiragiahas led to delayed identification, patient death and misidentification asFrancisella tularensis- a biosafety level three pathogen and potential bioterrorism agent.

Summary Our understanding of epileptogenesis is still limited. Knowledge is increasing with regard to structural and functional changes in chronic stages of epilepsy. At the same time, we have to appreciate that there is a significant lack of such information in new-onset epilepsy. The First Halifax International Epilepsy Conference tried to fill this gap, focusing on the contribution of advanced neuroimaging in early stages of epilepsy. The following article aims to synthesize the themes that emerged from this meeting. Participants agreed that (1) there is a need for a unified theory of epileptogenesis, addressing the interplay of functional and structural brain changes; (2) neuroimaging reveals widespread brain alterations in epilepsy; (3) advances in neuroimaging challenge the concept of “MRI-negative” (magnetic resonance imaging negative) focal epilepsy; (4) methodologic limitations and potential confounders must be considered in the translation of innovative imaging approaches to clinical practice; and (5) there is an urgent need for longitudinal studies that begin early in the disease process.

Accumulation of central nervous system (CNS) pathology affects cognitive processing speed and efficiency and is thought to underlie attentional and executive deficits in multiple sclerosis (MS). Most clinical neuropsychological tests are multifactorial and are limited in their sensitivity to specific cognitive processes. This may, in part, account for the low to moderate correlations between clinical test results and magnetic resonance imaging (MRI) indices of brain pathology. We compared the ability of a clinical and an experimental test of cognitive processing speed to differentiate domain-specific cognitive changes in MS, and examined relations between test performance and MRI measures of brain pathology. Twelve MS patients and 12 controls completed the Paced Auditory Serial Addition Test (PASAT) and the Attention Networks Test–Interactions (ANT-I), a computerized response latency task. Subjects also had MRI scans that included T1, T2, and fluid-attenuated inversion recovery (FLAIR) sequences that provided global and localized volumetric measures. Patients made more errors on the PASAT and were slower on the ANT-I. The ANT-I also revealed specific deficits in response inhibition. In addition, ANT-I performance was associated with changes in a number of MRI measures, which was not the case for the PASAT. Reaction time paradigms that manipulate within-task demands on distinct cognitive functions may provide meaningful markers of brain disease burden in MS.

Invasive fungal infection continues to pose a significant threat to immunocompromised patients. The authors describe a pediatric patient receiving chemotherapy for acute undifferentiated leukemia who developed presumptive Aspergillus species infection disseminated to lung, liver, spleen, and bone. The authors report the successful treatment of this infection with the addition of voriconazole, a triazole antimycotic, to treatment with amphotericin and surgical debridement, in the setting of ongoing intensive chemotherapy.

Background: White matter hyperintensities (WMHs) are among the most replicated neuroimaging findings in bipolar disorder (BD). It is not clear whether these lesions are an artifact of comorbid conditions, or whether they are directly associated with the disorder, or even represent biological risk factor for BD. Methods: To test whether WMHs meet criteria for an endophenotype of BD, we conducted a high-risk design study and recruited 35 affected, 44 unaffected relatives of bipolar probands (age range 15e30 years), matched by age and sex with 49 healthy controls without any personal or family history of psychiatric disorders. The presence of WMHs was determined from Fluid Attenuated Inversion Recovery (FLAIR) scans acquired on a 1.5 Tesla scanner using a validated semi-quantitative scale. Results: We found mostly low grade WMHs in all groups. The proportion of WMH-positive subjects was comparable between the unaffected high-risk, affected familial and control groups. Conclusion: White matter hyperintensities did not meet criteria for an endophenotype of BD. Bipolar disorder in young subjects without comorbid conditions was not associated with increased rate of WMHs.

Cerebral infarction producing psychiatric disorders such as depression and mania is a recognized phenomenon. However, resolution of affective disorders following stroke has not been previously reported. We describe the case of a 53-year-old woman with a 25-year history of treatment-resistant bipolar II and panic disorders. At the age of 46, she experienced a subarachnoid hemorrhage with secondary vasospasm that resulted in a stroke. Shortly following the hemorrhage, the patient experienced a complete remission of both psychiatric illnesses that has been sustained for 7 years. Initial computed tomography (CT) and angiography studies revealed subarachnoid hemorrhage with intraventricular extension, communicating hydrocephalus, and aneurysms of the left posterior communicating artery and the right anterior cerebral artery. Following clipping of the left internal posterior communicating artery aneurysm, the patient developed vasospasm with further stroke symptoms. A subsequent CT scan showed a fully developed ischemic infarct in the left temporoparietal region that was confirmed by follow-up magnetic resonance imaging (MRI). We present a 7-year follow-up with complete psychiatric interview, chart review, and MRI. The present case demonstrates the importance of continued efforts to localize neural circuits involved in the pathogenesis and maintenance of affective disorders. (Journal of Psychiatric Practice 2009;15:145–149).

The glutamatergic prefrontal-striatal pathway has been implicated previously in the neurobiology of attention-deficit/hyperactivity disorder (ADHD). We used short echo proton magnetic resonance spectroscopy (1H-MRS) to examine glutamate in the prefrontal cortex, left striatum, and, as a control area, the occipital lobe.Thirteen treatment-naïve ADHD children and 10 healthy comparison subjects participated. All were males between the ages of 6 to 11 years of age. Twelve ADHD subjects were scanned after 8 weeks of treatment.Striatal glutamate, glutamate/glutamine (Glx) and creatine concentrations were greater in the ADHD subjects at baseline as compared to controls. Only striatal creatine, not glutamate or Glx, was reduced after stimulant treatment in the ADHD patients. No significant differences between groups were noted in the remainder of the striatal metabolites or any of the occipital lobe or prefrontal cortex metabolites.These findings provide initial evidence of a striatal creatine/glutamatergic dysregulation in ADHD.

Objective: “Epilepsy in the elderly (EE)” is considered a homogeneous, benign syndrome in patients aged > 60 years, with cerebrovascular disease as the most frequent etiology. We challenge this concept by comparing EE and middle-aged adults with epilepsy (MAE). Methods: We compared: 1) seizure dynamics, 2) MRI lesions, 3) EEG findings and 4) treatment course in EE and MAE at the Halifax First Seizure Clinic. Results: 48 EE patients aged > 60.2 years (median 66.9 years). 31 MAE patients aged 50.2 – 59.6 years (median 55.1 years). Seizure dynamics in EE/MAE included first seizure in 50/54.8%, new onset epilepsy (new seizures within 12 months) in 43.8/35.5%, newly diagnosed epilepsy (seizures for >> 12 months) in 9.6/6.3%. First seizure evolved into new onset epilepsy in 12.5/3.2%. MRI in EE/MAE was normal in 22.5/27.6% or showed microangiopathy (25/38.5%), atrophy (10/15.4%), tumors (7.5/11.5%), vascular malformations (7.5/3.8%), hippocampal pathologies (0/3.8%), infarcts (12.5/0%). EEG in EE/MAE was normal in 64.4/65.5% or showed diffuse (6.6/3.5%) or focal slowing (8.8/7%), generalized (4.3/13.7%) or focal (15.4/10.4%) epileptiform activity. At 12 months, 87% of EE and 93.8% of MAE were seizure-free. Conclusions: EE and MAE show similar heterogeneity. We propose an etiology-driven classification of epilepsy syndromes in the aging brain.

Wilms tumor weight was used to recruit patients in a recent National Wilms Tumor Study (NWTS) group trial. The authors hypothesized that a simple calculation of tumor volume based on a preoperative CT scan could predict tumor weight. The authors reviewed charts and CT images of patients with Wilms tumors who were treated at their institution between 1985 and 2002. Tumor volume was calculated as: V = 1/6pi x d (long axis) x d (short axis) x d (craniocaudal). Weight and calculated tumor volume were correlated using linear regression. Complete data of tumor weight and volume could be determined in 25 of the 49 patients. These were highly correlated (Spearman R = 0.97). Wilms tumor weight can be predicted based on a simple estimate of tumor volume on a preoperative CT scan. CT-estimated volume may replace weight as a prognostic factor and in guiding management.

Premature infants are prone to white matter damage (WMD), which is associated with cerebral palsy (CP) and cognitive impairment. Ultrasound (US) is the preferred imaging modality to detect WMD. To improve on existing diagnostic rates, quantitative measures incorporating new information are needed. We are investigating US texture measures as new indicators of white matter health. We have developed algorithms to enhance texture features and then obtain a measure of the tissue texture. Using our texture measures, data from 18 patients (12 with normal outcome, 6 who developed CP) form separate populations based on patient outcome. Our algorithms are applied to B-mode cranial US images without compensating for operator-dependent machine settings and without suppressing speckle. The results of the preliminary study are intended to form the basis for the design of a computer aided diagnosis system for the early detection of white matter damage.

To report on a 3-year follow-up of women who underwent overlapping repair of a complete third-degree or fourth-degree obstetric tear.Primiparous women sustaining a complete third-degree or a fourth-degree tear of the perineum were randomized to a primary sphincter repair using either an end-to-end or an overlapping surgical technique. At 1, 2, and 3 years, questionnaires on rates of flatal and fecal incontinence were mailed to participants.At 1 year, women who underwent an end-to-end repair reported lower rates of flatal and fecal incontinence than women who had an overlapping repair. For flatal incontinence the rates were 31% compared with 56% (95% confidence interval for the rate difference 6-43%, P=.012). For fecal incontinence, the rates were 7% compared with 16% (95% confidence interval for the rate difference -4% to 21%, P=.17). The difference between the two methods of surgical repair had largely disappeared by the end of year 2.At 1-year follow-up, end-to-end repair of complete third-degree or fourth-degree obstetric anal sphincter tears is associated with significantly lower rates of anal incontinence when compared with overlapping repair. There is no long-term benefit associated with either technique over the other.ISRCTN Register, http://isrctn.org, ISRCTNO 4149919.I.

To evaluate the ultrasonographic (US) findings at presentation in a series of children who received a diagnosis of hemophagocytic lymphohistiocytosis (HLH) at a single institution.All available results of imaging studies of children who received a diagnosis of HLH between January 1985 and June 2000 were retrieved. For nine patients, abdominal US images obtained within 1 week of presentation to the hospital were reviewed retrospectively by two radiologists who were aware of the diagnosis and of the original interpretation of each study. US images were examined for evidence of splenomegaly, hepatomegaly, ascites, gallbladder wall thickening, increased periportal echogenicity, lymphadenopathy, pleural effusion, and nephromegaly. Any other abnormalities were also recorded. Differences in interpretation were resolved by consensus. The patients ranged in age from 2 months to 4(1/2) years. The male-to-female ratio was 5:4.Findings at presentation included splenomegaly (in eight of the nine children), hepatomegaly (in seven children), ascites (in six children), gallbladder wall thickening (in six children), increased periportal echogenicity (in three children), lymphadenopathy (in three children), and pleural effusion (in two children). Miscellaneous findings in individual patients included coarse hepatic echotexture with a single 9-mm hypoechoic focus in the liver, multiple hypoechoic foci in the spleen, nephromegaly, gallstone, increased renal cortical echogenicity, and mural thickening of the duodenum.In the appropriate clinical setting, the differential diagnosis of a combination of hepatosplenomegaly, ascites, gallbladder wall thickening, increased periportal echogenicity, lymphadenopathy, and/or pleural effusion should include HLH.

Purpose Spinal Dural Arteriovenous Fistula (SDAVF) is a rare acquired lesion that can impair spinal cord function. Early diagnosis is very important since the symptoms can be reversed if treated prior to irreversible cord ischemia or infarction. Characteristic features of the spinal MRI includes multi-leveled T2 hyperintensity in the spinal cord signifying cord edema and prominent flow voids in the extramedullary and intradural space from venous congestion. These prominent flow voids are commonly mistaken for primary vascular malformation. It is important to note that the flow voids are the consequence of venous congestion and not the site of fistulous shunting. The understanding of this disease process is pertinent in safe treatment planning. We aim to show that neither the distribution of flow voids nor the intramedullary findings are related to the location of the fistula. Materials and Methods We retrospectively analyzed cases of SDAVFs in the last 2 years. All patients underwent clinical examination, MRI of the whole spine and spinal digital subtraction angiogram (DSA). We compared the level of the fistula based on the clinical presentation and MR images with that of the DSA findings. Results There were a total of 7 cases of SDAVFs. All patients presented with progressive myelopathy. Initial MRI showed extensive T2 hyperintensity in the spinal cord and flow voids in the extramedullary, intradural space. Subsequent DSA identified the location of the fistula ranging from the cranio-cervical junction to the sacral level. Clinical presentation and MRI findings were not predictive of location of fistula found on spinal DSA. In one case, the patient9s time resolved MR angiography was able to localize the fistula which was later confirmed on spinal DSA. Discussion SDAVFs represent an abnormal connection between the segmental dural arterial supply and the vein, which eventually drain into the perimedullary vein. This results in retrograde venous congestion in the spinal cord. This usually manifest as dilated perimedullary veins on MRI and T2 hyperintensity in spinal cord secondary to congestion and edema and clinically as progressive myelopathy. Since the spinal perimedullary venous system is an integrated system, congestion secondary to SDAVF at any spinal level can result in venous congestion of the spinal cord. Hence, the venous congestion is the consequence and not the cause and result in the characteristic clinical and MRI presentations. Only spinal DSA accurately demonstrate the fistula location. Standard contrast-enhanced MR angiography in combination with MRI has been shown recently to increase accuracy of fistula localization. Summary Clinical presentation and MRI findings are very useful in pointing toward the diagnosis of SDAVF but do not give any indication about of the location of fistula. Location of fistula can be shown only on spinal DSA or in some cases time resolved MR angiography. This understanding is very important in the planning of safe treatment.

Background. Hurler’s syndrome is a lysosomal storage disease with devastating neurological sequelae if left untreated. The negative correlation between age and IQ is significant (r = −0.82, p< 0.0003). These children have a normal intelligence at birth but on average decline by 2 standard deviations within the first 2 years of life (represents 30 point decrease in IQ). The underlying abnormality is an absence of the enzyme alpha-L-iduronidase, which is available as a recombinant enzyme but does not cross the blood-brain barrier. Currently, bone marrow transplant (BMT) is the only way to prevent the expected neurological deterioration. It is believed that higher levels of enzyme activity are associated with better neurological outcomes. Case report: We report on a 4 year 6 month old boy who was diagnosed with Hurler’s syndrome at 9 months of age. At 15 months of age, he received a matched related transplant with a preparative regimen of cyclophosphamide, busulfan and low dose total body irradiation (300 cGy). In the post transplant period, he had some minor complications but no neurological insults. He received Cyclosporin A for GVHD prophylaxis, which was discontinued after 5 months. Initially there was complete engraftment and normal enzyme activity but this was temporary (See Table 1). Table 1 Alpha-L-iduronidase Chimerism % * believed to be secondary to assay problems Pretransplant 0 Post transplant Normal 14–41 nmol/h/mg protein Ideal > 90% 1 month 28 90 4 months 0 45 6 months 14 30 1 year 3 15 1 year 5 months 2 15 1 year 8 months 3 10 2 year 1 month 73* 15 2 year 6 months 4 10 3 year 2 months 3 10 He had an excellent clinical response to BMT with softening of the characteristic facial features and resolution of airway obstruction. Prior to BMT he was report to be developing normally. He sat at 61/2 months, stood at 7 month, had single words at 10 months, and walked at 13 months. Despite mixed chimerism and sub-optimal enzyme activity, his development since BMT has been impressive. 2 years post-BMT (age 3 yr 3 mo), he underwent a formal neuropsychological evaluation. Full Scale intelligence testing revealed he had average intelligence (45th percentile), with a discrepancy between his verbal and performance intelligence. His language skills were within normal limits. He was reported to have some difficulties with visual spatial testing (in block design). Clinical assessment, at this time, revealed that he was doing well in school and had been fully toilet trained. At his last assessment at age 4 yr 5 mo (3 yr 2 mo post BMT), he had made dramatic improvements on the Peabody Developmental Motor Skills, with an age equivalent of 41 months. This was likely hampered somewhat by flexion contractures of his fingers. He continued to do well in school and was speaking both English and French. He had clinically normal development for age. Formal neuropsychological tests will be presented in poster format. Conclusions : This case is the first in the literature with halting of the characteristic neurological decline in Hurler’s syndrome despite poor engraftment and low enzyme activity following BMT. Full donor chimerism and normal alpha-L-iduronidase expression may not be needed to ameliorate the devastating consequences of Hurler’s syndrome.

Takayasu's disease is an arteritis with a predilection for the proximal branches of the aortic arch. Chronic retinal hypoxic changes and ischemic ocular inflammation, resulting from cervical vascular occlusion, have been described extensively. Anterior ischemic optic neuropathy has rarely been reported in this condition, and only in conjunction with other ophthalmic findings. Here we present the case of a patient who developed bilateral anterior ischemic optic neuropathy in the absence of other eye findings, and was subsequently found to have an aortic arch syndrome compatible with Takayasu's disease.