Idiopathic Syndromes Research Articles

A Case Series Study of Omphalocele with Associated Anomalies

Omphalocele is a developmental aberration which occurs during embryonic period in the fetal life. The fault in complete closure of the anterior abdominal wall leading to protrusion of the abdominal viscera mainly the small and large intestines with the liver into the base of umbilical cord insertion forms its main pathological feature. It differs from gastroschisis in that the eviscerated organs are covered by a thin amniotic peritoneal membrane, whereas in latter, the herniated contents are exposed exterior with no covering. In fetuses, this malformation is known to be complicated with abnormal karyotyping, other congenital abnormalities, and idiopathic syndromes which account for grave prognosis. Hence, the aim of our study was to analyze the clinical presentation and document seven cases of fetuses having omphalocele associated with anomalies and chromosomal aberrations leading to fetal dismissal.

Association between chronic idiopathic cough and sensitive skin syndromes is a new argument in favor of common neuropathic pathways: results from a survey on 4050 subjects

Sensitive skin syndrome has a neuropathic origin, which is why it is frequently associated with irritable bowel syndrome. We have looked for a possible association with chronic cough, which is commonly maintained by neurogenic mechanisms, whatever the initial cause(s). A survey was carried out on a representative sample of the population over 15 years of age using the quota method. The questionnaire included sociodemographic data and questions about sensitive skin, the presence of chronic cough, smoking and possible causes of chronic cough. Chronic cough was assessed by the Leicester Cough Questionnaire, and 4050 subjects responded (mean age: 45 years). Overall, 12.2% of subjects with a chronic cough were compared to the 87.8% without any cough. Among them, 72.5% had sensitive skin (vs. 47.8%, p < 0.001); additionally, 17.4% of the subjects with sensitive skin had a chronic cough (vs. 6.9% if no sensitive skin). These proportions were higher if very sensitive skin was reported. The risk of having chronic cough was twice as high if sensitive skin was reported [OR = 1.9 (1.5–2.4), p < 0.001]. The risk of having sensitive skin was also twice as high for chronic cough. Thus, chronic cough and sensitive skin are frequently associated. This association represents a new argument in favor of a neuropathic nature of sensitive skin. Sensitive skin and chronic cough are both modes of overreaction to environmental factors, which tend to be autonomized by neurogenic mechanisms. Dermatologists should ask their patients if they have a chronic cough, and pneumologists should ask about the presence of sensitive skin.

Etiological profile of new-onset seizures among adult Egyptians

BackgroundNew-onset seizure (NOS) is defined as the first seizure within a 24-h period ever experienced by the patient. A first-ever seizure can be the first manifestation of epilepsy. Or it may be a symptom of a brain tumor, a systemic disorder, an infection, or a syndrome that deserves special attention and treatment. This study aims to identify the etiology of NOS among different age and sex groups of adult Egyptian patients. A hundred and twenty adult Egyptian patients (> 18 years) presented with acute NOS were enrolled in a hospital-based cross-sectional observational study from the emergency room and neurology outpatient clinics of our hospitals within a time period of 6 months from March till September 2018. All patients were subjected to neurological examination, laboratory, neuroimaging, and electroencephalogram investigations.ResultsAmong 120 adult patients presented with NOS, males were prevalent (63%). Older adults (age group > 55 years) were the most prevalent cohort (60%). Cerebrovascular diseases (CVDs) were the most common identified etiology of NOS (44.17%), followed by idiopathic epilepsy syndrome (18.33%), symptomatic mainly “metabolic” (11%), brain tumors (9.17%), post-traumatic epilepsy (6.67 %), encephalitis (5.83%), and cryptogenic (5%). Idiopathic epilepsy syndrome was the most common etiology (55.56%) of new-onset seizures among the young adult age group (< 36 years), while CVDs were the most common etiology (65.28%) among older adults (> 55 years). Also, CVDs were the most common etiology among males (43.4%) as well as females (45.4%). However, male predominance was the highest among post-traumatic seizures (87.5%). And female predominance was the highest among brain tumors identified etiology of NOS (54.5%).ConclusionNOS among adults are prevalent in elder males. CVDs are the most commonly identified etiology of adult NOS across males and females. Idiopathic epilepsy syndromes are the predominant etiology among younger adults.

Idiopathic Nephrotic Syndrome: Characteristics and Identification of Prognostic Factors.

There are various histopathological forms of idiopathic nephrotic syndrome, including minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS). Whereas some relapse predictor factors have been identified in renal transplantation, the clinical future of idiopathic nephrotic syndrome in the native kidney remains uncertain. We designed a multicentric retrospective descriptive cohort study including all patients aged 15 years and over whose renal biopsy confirmed MCD or FSGS between January 2007 and December 2014. We studied 165 patients with idiopathic nephrotic syndrome; 97 with MCD and 68 with FSGS. In the MCD cohort, 91.7% of patients were treated with corticosteroids for a median total duration of 13 months. During 45 months of follow-up, 92.8% of patients achieved remission and 45.5% experienced relapse. In this cohort, 5% of patients experienced terminal kidney disease. With respect to FSGS patients, 51.5% were treated with corticosteroids for a median total duration of 15 months. During 66 months of follow-up, 73.5% of patients achieved remission and 20% experienced relapse. In this cohort, 26.5% of patients experienced terminal kidney disease. No statistical association was observed between clinical and biological initial presentation and relapse occurrence. This study describes the characteristics of a cohort of patients with the nephrotic idiopathic syndromes of MCD and FSGS from the time of renal biopsy and throughout follow-up.

A case-control study about bite force, symptoms and signs of temporomandibular disorders in patients with idiopathic musculoskeletal pain syndromes

BackgroundThe purposes of this study were to assess the prevalence of temporomandibular disorders symptoms and signs and the bite force in pediatric patients with idiopathic musculoskeletal pain syndrome and to compare to healthy control individuals paired by gender and age.MethodsForty consecutive patients (32 girls) from our outpatient pediatric rheumatology pain clinic with diagnosis of idiopathic musculoskeletal pain syndrome were included in this study. Twenty healthy subjects (16 girls) were considered the control group. All individuals were interviewed according to a standardized questionnaire concerning the presence of orofacial pain and functional impairment, and were submitted to a clinical evaluation following a structured protocol. After that the bite force was measured.ResultsTwelve patients met the ACR criteria for fibromyalgia, and 28 presented the diagnosis of pain amplification syndrome. The mean age of patients was 13.1 years (range, 6–18 years) and of controls was 12.8 years (range, 6–18 years) with no significant difference. Orofacial symptoms occurred in 25 patients (62.5%) and in 3 controls (15%) (p = 0.0014). Sixteen (40%) patients and four (20%) controls presented pain during mandibular function with no significant difference. Although both pain groups presented separately more frequently orofacial symptoms and pain on palpation than the controls, maximal voluntary bite force was similar between patients and controls, between both patient groups and between the two pain groups and controls.ConclusionsOur findings indicate that temporomandibular disorders symptoms were more prevalent in patients with idiopathic musculoskeletal pain syndrome than in healthy controls. However the bite force was not different among the groups.

Idiopathic generalised epilepsies of adult onset: a reappraisal and literature review.

Idiopathic generalised epilepsies are characterised by widespread, symmetric, bilateral spike-and-wave discharges on EEG. Onset typically occurs in children and adolescents, but may also start in adulthood. These forms of adult onset constitute the focus of this review. A critical analysis of the medical literature was conducted through a narrative review search of PubMed and Medline databases. Cases of idiopathic generalised epilepsies with adult onset, in general, are not considered to be independent nosological entities. The "grand mal on awakening" seems to prevail among the idiopathic syndromes of adult onset. The EEG findings that question the diagnosis of late-onset idiopathic generalised epilepsies consist mainly of patterns interpreted as representing focal epileptiform activity. Normal brain MRI and typical EEG abnormalities are essential for diagnosis. For all cases with symptomatology of suspected adult-onset idiopathic generalised epilepsy, it is mandatory to exclude neurological conditions that may be associated with epileptic seizures which appear in this age group. A correct diagnosis of adult-onset idiopathic generalised epilepsy alleviates concern for a symptomatic origin, leading to appropriate antiepileptic treatment.

Phthalate and non-phthalate plasticizers in indoor dust from childcare facilities, salons, and homes across the USA

The quality of indoor environment has received considerable attention owing to the declining outdoor human activities and the associated public health issues. The prolonged exposure of children in childcare facilities or the occupational exposure of adults to indoor environmental triggers can be a culprit of the pathophysiology of several commonly observed idiopathic syndromes. In this study, concentrations of potentially toxic plasticizers (phthalates as well as non-phthalates) were investigated in 28 dust samples collected from three different indoor environments across the USA. The mean concentrations of non-phthalate plasticizers [acetyl tri-n-butyl citrate (ATBC), di-(2-ethylhexyl) adipate (DEHA), and di-isobutyl adipate (DIBA)] were found at 0.51–880 μg/g for the first time in indoor dust samples from childcare facilities, homes, and salons across the USA. The observed concentrations of these replacement non-phthalate plasticizer were as high as di-(2-ethylhexyl) phthalate, the most frequently detected phthalate plasticizer at highest concentration worldwide, in most of indoor dust samples. The estimated daily intakes of total phthalates (n = 7) by children and toddlers through indoor dust in childcare facilities were 1.6 times higher than the non-phthalate plasticizers (n = 3), whereas estimated daily intake of total non-phthalates for all age groups at homes were 1.9 times higher than the phthalate plasticizers. This study reveals, for the first time, a more elevated (∼3 folds) occupational intake of phthalate and non-phthalate plasticizers through the indoor dust at salons (214 and 285 ng/kg-bw/day, respectively) than at homes in the USA.

Validation of the revised International Prognostic Scoring System in patients with myelodysplastic syndrome in Japan: results from a prospective multicenter registry.

The Japanese National Research Group on Idiopathic Bone Marrow Failure Syndromes has been conducting prospective registration, central review, and follow-up study for patients with aplastic anemia and myelodysplastic syndrome (MDS) since 2006. Using this database, we retrospectively analyzed the prognosis of patients with MDS. As of May 2016, 351 cases were registered in this database, 186 of which were eligible for the present study. Kaplan-Meier analysis showed that overall survival (OS) curves of the five risk categories stipulated by the revised international prognostic scoring system (IPSS-R) were reasonably separated. 2-year OS rates for the very low-, low-, intermediate-, high-, and very high-risk categories were 95, 89, 79, 35, and 12%, respectively. In the same categories, incidence of leukemic transformation at 2 years was 0, 10, 8, 56, and 40%, respectively. Multivariate analysis revealed that male sex, low platelet counts, increased blast percentage (>2%), and high-risk karyotype abnormalities were independent risk factors for poor OS. Based on these data, we classified Japanese MDS patients who were classified as intermediate-risk in IPSS-R, into the lower risk MDS category, highlighting the need for careful assessment of treatments within low- and high-risk treatment protocols.

Canakinumab for the treatment of different refractory autoinflammatory disorders

Interleukin-1β (IL-1β) is a powerful pro-inflammatory cytokine synthesized in the inflammasome complex of immune cells in response to injury and infection. The excess activity of this cytokine plays a fundamental role in the pathogenesis of the autoinflammatory disorders. An emphasis on pediatric rheumatology is given to systemic-onset juvenile idiopathic arthritis (SoJIA) and periodic fever syndromes. Until the last decade, there wasnt an efficient alternative for the treatment of autoinflammatory syndromes refractory for convencional therapies. This scenery was modified with the introduction of biological agents, especially the IL-1 antagonist group (Anakinra, Rilonacept and Canakinumab). Canakinumab, a fully human anti-IL-1β monoclonal antibody, selectively binds to IL-1β, and intercepts the spread of inflammation. This medication was approved for treatment of cryopyrin-associated periodic syndrome (CAPS) in 2009, and SoJIA in 2013, and has shown to be an excellent tool for controlling these disorders.

A predictive risk model for medical intractability in epilepsy

ObjectiveThis study aimed to investigate early predictors (6months after diagnosis) of medical intractability in epilepsy. MethodsAll children <12years of age having two or more unprovoked seizures 24h apart at Xinhua Hospital between 1992 and 2006 were included. Medical intractability was defined as failure, due to lack of seizure control, of more than 2 antiepileptic drugs at maximum tolerated doses, with an average of more than 1 seizure per month for 24months and no more than 3 consecutive months of seizure freedom during this interval. Univariate and multivariate logistic regression models were performed to determine the risk factors for developing medical intractability. Receiver operating characteristic curve was applied to fit the best compounded predictive model. ResultsA total of 649 patients were identified, out of which 119 (18%) met the study definition of intractable epilepsy at 2years after diagnosis, and the rate of intractable epilepsy in patients with idiopathic syndromes was 12%. Multivariate logistic regression analysis revealed that neurodevelopmental delay, symptomatic etiology, partial seizures, and more than 10 seizures before diagnosis were significant and independent risk factors for intractable epilepsy. The best model to predict medical intractability in epilepsy comprised neurological physical abnormality, age at onset of epilepsy under 1year, more than 10 seizures before diagnosis, and partial epilepsy, and the area under receiver operating characteristic curve was 0.7797. This model also fitted best in patients with idiopathic syndromes. ConclusionA predictive model of medically intractable epilepsy composed of only four characteristics is established. This model is comparatively accurate and simple to apply clinically.

Next-Generation Sequencing for the Identification of Transplantation-Associated Pathogens

AbstractAbstract LBA-4 Background:Hematopoietic stem cell transplantation (HSCT), while a powerful tool in the clinician's armamentarium against refractory hematological diseases, is associated with high non-relapse mortality. Infectious, immunological and idiopathic syndromes all contribute to the nearly 30% treatment related mortality in the first year post-transplantation. Microbiological triggers have been suggested in many of the idiopathic post-transplantation syndromes that occur, but actual pathogens have been discovered in only a small subset.Recently, Herrera and colleagues described an antibiotic-responsive colitis unique to patients who have undergone umbilical cord stem cell transplantion.1This “cord colitis syndrome” (CCS) is clinically and histopathologically distinct from other known causes of colitis in transplantation patients, such as viral colitis, bacterial colitis and intestinal graft versus-host disease (GVHD). Contemporary microbiological tools did not reveal a causative organism in CCS. We therefore sought to apply an unbiased, “deep sequencing” approach for the discovery of a potential CCS-associated pathogen. Methods:Of the 11 patients described in the original CCS cohort, five patients had undergone colonic biopsies in the time frame just before and just after diagnosis with and treatment for CCS. We selected these formalin fixed, paraffin embedded biopsies, which measured approximately 2mm × 2mm × 1mm, and extracted DNA. Four samples (two temporally separated biopsies from two patients) had adequate DNA to perform whole genome sequencing (WGS). Following sequencing at two separate facilities (to control for potential sources of contamination), we performed taxonomic classification of all resultant sequencing “reads” using the PathSeq software.2Computational assembly of unclassifiable “reads” was performed for the discovery of novel microbial organisms. An attempt was then made to investigate for the presence of candidate microbes identified by this method in the three additional patients for whom colonic biopsies were available and in various controls. Results:Using this approach, a large proportion of non-human reads (over 2.5 million high-quality reads) from all four sequenced samples were unclassifiable, suggesting the presence of a yet-undiscovered microbial organism within the tissue specimens. In order to infer the genomic sequence of this organism, computational assembly was performed with reads from a single patient using two different DNA assembly programs (VELVET and AllPaths-LG).3,4 Both assembly methods independently resulted in the generation of a nearly 7.65 Mb draft genome. Ninety-eight of 99 contiguous overlapping sequences (“contigs”) demonstrated homology to Bradyrhizobium species. This novel organism was provisionally named Bradyrhizobium entericabased on the results of a rooted phylogenetic analysis. PCR confirmed the presence of B. enterica in three additional CCS patients and demonstrated absence of B. enterica in normal colon, colon cancer and GVHD controls. Conclusions:Using an unbiased, sequencing-based method for pathogen discovery, we report the discovery of Bradyrhizobium enterica, a novel bacterium, from colon biopsies of patients affected with CCS. This is the first demonstration, to our knowledge, of the discovery of a novel bacterium through sequencing of a diseased human tissue. We showed that B. enterica is present in additional cord colitis patients and is absent in normal colon, colon cancer and GVHD controls. Given the ease, rapidity and culture-independent method of discovery of a disease-associated bacterium that was demonstrated in this previously idiopathic syndrome, we anticipate that this methodology will be more widely applied in the field of stem cell transplantation for the identification of potential disease-associated pathogens. Disclosures:Marty:Chimerix: Consultancy, Research Funding. Meyerson:Foundation Medicine: Consultancy, Equity Ownership; Microgenomica: Equity Ownership; Novartis: Consultancy.

Morbus Parkinson: Aktuelle Standards in Diagnostik und Therapie

Idiopathic Parkinson's disease is still a clinical diagnosis. However, modern imaging and nuclear techniques allow very early diagnosis and lead to higher security in the differential diagnosis between idiopathic Parkinson's disease and atypical Parkinson syndromes. At early stages of the disease, modification of disease progression and symptom control are key factors of the therapy. Continuous dopaminergic stimulation is even more important at later stages with first fluctuations. In stages where conservative medical options have been exhausted continuous pump therapies with Duodopa and apomorphine are attractive options. Deep brain stimulation in the subthalamic nucleus has turned out in the last years, especially in younger patients, to be a highly successful treatment option. Deep drain stimulation requires, however, a close preoperative work-up and individual consideration of potential effects and side effects.

Histological Assessment of the Lobster (Homarus americanus) in the “100 Lobsters” Project

The emergence of epizootic shell disease in the American lobster (Homarus americanus) has been devastating to the industry in the coastal waters of southern New England. A comprehensive assessment of the disease syndrome, known as the “100 Lobsters” Project, was initiated to examine health and physiological parameters among laboratories involved in the research on lobster shell disease. A histological study of the 100 lobsters was undertaken as part of that assessment. Tissues from 90 lobsters from Rhode Island and 19 lobsters from Maine were examined as a general health assessment of the 100 lobsters. Approximately half the lobsters from Rhode Island were selected because they had frank epizootic shell disease, whereas none of the lobsters from Maine exhibited the syndrome. In addition to epizootic shell disease, the histological findings revealed 3 other idiopathic syndromes—necrotizing hepatopancreatitis, idiopathic blindness, and nonspecific granulomas—in higher prevalences in lobsters from Rhode Island compared with those from Maine. Necrotizing hepatopancreatitis, a newly described disease syndrome in lobsters, was observed in 15% of the lobsters from Rhode Island. Idiopathic blindness was present in 54% of the lobsters from Rhode Island, and 16% of the animals from Maine. This is the first report of the syndrome in lobsters from Maine. None of the idiopathic syndromes was associated with epizootic shell disease. The detection of multiple disease syndromes such as epizootic shell disease, necrotizing hepatopancreatitis, and idiopathic blindness may be indicative of exposure to environmental stressors in Narragansett Bay, RI.

Functional neuroimaging in migraine: usefulness for the clinical neurologist

Migraine is a common, multifactorial disorder, typically characterized by recurrent attacks of throbbing unilateral headache, autonomic nervous system dysfunction and, in approximately one-third of cases, neurological transient symptoms (migraineous aura). The diagnosis of primary headaches is exclusively a clinical task but, for this reason, it is sometimes subjective and arbitrary. However, until today no single diagnostic tool is able to define, ensure or differentiate idiopathic headache syndromes, although, in the clinical setting, conventional neuroimaging techniques are often widely and improperly used in headache patients. Recent years have seen rapid growth of neuroimaging methodology which has provided new insights into functional brain organization of migraine patients. Although functional magnetic resonance imaging has today little or no value in clinical practice, clinicians role is crucial since without a proper clinical selection neuroimaging studies could generate inconclusive results. Likewise, functional neuroimaging is crucial for clinicians in order to further elucidate pathophysiological mechanisms underlying this complex and often disabling disease and to provide new therapeutical approaches for migraine patients.

Saccadic Abnormalities in Familial Parkinson's Disease Associated with -Synuclein (SNCA) Gene Mutation (PARK1) (P02.258)

Objective: To investigate saccadic characteristics of PARK1 and to compare them with those of other parkinsonian syndromes. Background Typical patterns of eye movement abnormalities have been described in both idiopathic (PD, CDB, LBD and MSA) and familial (PARK2 and PARK6) parkinsonian syndromes, providing not only useful diagnostic markers, but also insights in to the functions of the basal ganglia. Mutations in the SNCA gene are a rare cause of autosomal dominant early-onset Parkinson9s Diseases (PARK1); its gene product is the main component of Lewy bodies, the hallmark of parkinsonian neuronal degeneration. Design/Methods: Two symptomatic PARK1 patients were recorded during various saccadic paradigms: horizontal visually-guided saccades (VGS), anti-saccades, overlap, and memory-guided saccades (MGS) (10° and 18°). Data were statistically compared with those of 19 healthy controls. Results were related to findings reported in other parkinsonian syndromes. Results: Both patients showed saccadic abnormalities. VGS amplitude (10° p1:9.6±0.8°, p2:8.4±0.5° normal values (n.v.) 10.3±1.0° p Conclusions: PARK1 patients present peculiar abnormalities in both voluntary and reflexive saccades. Hypometric VGS, abnormal inhibition of reflexive saccades and staircase saccades have been described in other parkinsonian syndromes. The observation of slow VGS has never been reported in parkinsonian syndromes and may indicate the extension of the neuronal degeneration to other structures controlling saccade dynamics. The characteristic patterns of saccade abnormalities may help diagnosis as well as pointing to an understanding of the functions of the basal ganglia and how they become impaired in parkinsonian syndromes. Disclosure: Dr. Pretegiani has nothing to disclose. Dr. Leigh has nothing to disclose. Dr. Zee has received royalty payments from Oxford University Press. Dr. Federico has nothing to disclose. Dr. Piu has nothing to disclose. Dr. Rufa has nothing to disclose.

Clinical characteristics and use of antiepileptic drugs among adolescents with uncomplicated epilepsy at a referral center in Novi Sad, Serbia

The study aimed to investigate the type and etiology of epileptic seizures and the use of antiepileptic drugs for the treatment of various forms of epileptic seizures among adolescents with active but uncomplicated epilepsy at a tertiary referral center in Novi Sad, Serbia. The study design was cross sectional. Data were obtained from patients and medical records. A total of 103 adolescents (39 males and 64 females) with active but uncomplicated epilepsy were included. Patients with primary generalized seizures had significantly better control of epilepsy than those with partial seizures with or without secondary generalization. A total of 80 (77.7%) adolescents had no known underlying etiology based on initial diagnosis and evaluation. All adolescents were classified into known idiopathic syndromes (54.4%), non-classifiable cryptogenic etiology (23.3%), and secondary epilepsy attributed to MRI-identified lesions (22.3%). Eighty-eight percent of adolescents were taking monotherapy and 64.8% of these were taking valproate. New antiepileptic drugs (AEDs), topiramate and lamotrigine, the only drugs available free of charge at the Serbian market, were used in 19.4% of patients. A total of 57.3% adolescents were seizure-free, 24.2% had occasional seizures, and 18.5% had seizures despite AED treatment.

Augenschmerzen aus neurologischer Sicht

Head and facial pain are common in neurological practice and the pain often arises in the orbit or is referred into the eye. This is due to the autonomic innervation of the eye and orbit. There are acute and chronic pain syndromes. This review gives an overview of the differential diagnosis and treatment. Idiopathic headache syndromes, such as migraine and cluster headache are the most frequent and are often debilitating conditions. Trigemino-autonomic cephalalgias (SUNCT and SUNA) have to be taken into account, as well as trigeminal neuralgia. Trigemino-autonomic headache after eye operations can be puzzling and often responds well to triptans. Every new facial pain not fitting these categories must be considered symptomatic and a thorough investigation is mandatory including magnetic resonance imaging. Infiltrative and neoplastic conditions frequently lead to orbital pain. As a differential diagnosis Tolosa-Hunt syndrome and Raeder syndrome are inflammatory conditions sometimes mimicking neoplasms. Infections, such as herpes zoster ophthalmicus are extremely painful and require rapid therapy. It is important to consider carotid artery dissection as a cause for acute eye and neck pain in conjunction with Horner's syndrome and bear in mind that vascular oculomotor palsy is often painful. All of the above named conditions should be diagnosed by a neurologist with special experience in pain syndromes and many require an interdisciplinary approach.

Practical diagnostic approach to uveitis

Accounting for approximately 10% of blindness in the USA, uveitis refers to a group of heterogeneous diseases that share the features of intraocular inflammation but whose etiologies include idiopathic autoimmune disease, infections, rheumatologic diseases and masquerade syndromes. Correct diagnosis with timely and appropriate therapy is key to reducing disease-associated morbidity. The multitude of possible causes can create diagnostic challenges, but a successful approach includes a targeted history of the illness and associated symptoms, detailed ocular evaluation and specific laboratory investigations. The purpose of this article is to aid in the initial evaluation and decision-making strategy for uveitis according to the Standardization of Uveitis Nomenclature Working Group classification scheme and to provide a brief look at the anticipated future for diagnostic tools.

P24 Idiopathic Parkinson disease and atypical parkinsonian syndromes show different dopaminergic degeneration pattern in visual assessment of 123I-FP-CIT SPECT

P24 Idiopathic Parkinson disease and atypical parkinsonian syndromes show different dopaminergic degeneration pattern in visual assessment of 123I-FP-CIT SPECT

Neurologic symptoms and diagnosis in adults with mast cell disease

Objective To identify complications of mastocytosis that impact the nervous system across a large cohort. Patients and methods In this retrospective series, we reviewed the electronic medical records of adult patients with a diagnosis of mastocytosis who were referred to a Neurologist at Mayo Clinic in Rochester, MN from January 1, 1999 to December 31, 2008. Results Thirty patients were identified who presented to a Neurologist with symptoms potentially related to the mast cell disease. Twelve of these patients presented with complex spells involving syncope, which frequently preceded a formal diagnosis of mastocytosis. Nine individuals presented with acute back pain which was ultimately deemed symptomatic of vertebral compression fractures. One individual experienced spinal cord compression from a vertebral mast cell infiltrate. Headaches were reported in 78/223 (35%) total patients with mastocytosis. Although details of headaches were insufficiently ascertained to diagnose most, the five individuals in our referral cohort met International Headache Society (IHS) criteria for migraine. Finally, three individuals (1.3%) were identified with multiple sclerosis occurring at variable times after the mast cell diagnosis. Conclusion Symptoms related to mastocytosis may be encountered by neurologists and mimic many common, often idiopathic syndromes including, syncopal spells, back pain, and headache. In our cohort, multiple sclerosis may be over-represented. Mastocytosis should be considered in patients with these presentations, especially when also accompanied by flushing, abdominal cramping or diarrhea.