CSF GABA is reduced in first-episode psychosis and associates to symptom severity.

Schizophrenia is characterized by a multiplicity of symptoms arising from almost all domains of mental function. γ-Aminobutyric acid (GABA) is the primary inhibitory neurotransmitter in the brain and is increasingly recognized to have a significant role in the pathophysiology of the disorder. In the present study, cerebrospinal fluid (CSF) concentrations of GABA were analyzed in 41 first-episode psychosis (FEP) patients and 21 age- and sex-matched healthy volunteers by high-performance liquid chromatography. We found lower CSF GABA concentration in FEP patients compared with that in the healthy volunteers, a condition that was unrelated to antipsychotic and/or anxiolytic medication. Moreover, lower CSF GABA levels were associated with total and general score of Positive and Negative Syndrome Scale, illness severity and probably with a poor performance in a test of attention. This study offers clinical in vivo evidence for a potential role of GABA in early-stage schizophrenia.

Increased number of monocytes and plasma levels of MCP-1 and YKL-40 in first-episode psychosis.

OBJECTIVE: Accumulating evidence implicates immune activation in the development of schizophrenia. Here, monocyte numbers, monocyte chemoattractant protein-1 (MCP-1) and chitinase-3-like protein 1 (YKL-40) were investigated in plasma and cerebrospinal fluid (CSF) in first-episode psychosis (FEP) patients. METHOD: CSF and blood were sampled from 42 first-episode psychosis (FEP) patients and 22 healthy controls. The levels of YKL-40 and MCP-1 were measured using electrochemiluminescence assay, and blood monocytes were counted using an XN-9000-hematology analyzer. RESULTS: We found higher plasma levels of MCP-1 and YKL-40 in FEP patients compared with healthy controls, a condition that was unrelated to antipsychotic and/or anxiolytic medication. This was combined with an increased number of blood monocytes and a borderline significant increase in YKL-40 levels in the CSF of tobacco-free FEP patients. Plasma or CSF chemokines or blood monocytes did not correlate with the severity of symptoms or the level of functioning. CONCLUSION: These data demonstrate activation of monocytes in FEP and strengthens the idea of an immune dysfunction of psychotic disorders. Further studies are required to perceive a role of YKL-40 and MCP-1 in the initiation and progression of schizophrenia.

Tryptophan Metabolism Along the Kynurenine Pathway Downstream of Toll-like Receptor Stimulation in Peripheral Monocytes.

Tryptophan degradation along the kynurenine pathway is of central importance for the immune function. Toll-like receptors (TLRs), representing the first line of immune defence against pathogens, are expressed in various cell types. The most abundant expression is found on monocytes, macrophages and dendritic cells. The aim of this study was to investigate whether stimulation with different TLR ligands induces the kynurenine pathway in human peripheral monocytes. Cell supernatants were analysed using a liquid chromatography/mass spectrometry to measure kynurenine, kynurenic acid (KYNA), quinolinic acid (QUIN) and tryptophan. Stimulation of TLR-2, TLR-3, TLR-4, TLR-7/8 and TLR-9 was found to induce the production of kynurenine, but only stimulation of TLR-3 increased levels of further downstream metabolites, such as KYNA and QUIN. Stimulation of TLR-1, TLR-5 and TLR-6 did not induce the kynurenine pathway. Taken together, this study provides novel evidence demonstrating that TLR activation induces a pattern of downstream tryptophan degradation along the kynurenine pathway in monocytes. The results of this study may implicate that TLRs can be used as new drug targets for the regulation of aberrant tryptophan metabolism along this pathway, a potential therapeutic strategy that may be of importance in several disorders.

Repeated LPS Injection Induces Distinct Changes in the Kynurenine Pathway in Mice.

The immune system has been recognized as a potential contributor to psychiatric disorders. In animals, lipopolysaccharide (LPS) is used to induce inflammation and behaviors analogous to some of the symptoms in these disorders. Recent data indicate that the kynurenine pathway contributes to LPS-induced aberrant behaviors. However, data are inconclusive regarding optimal LPS dose and treatment strategy. Here, we therefore aimed to evaluate the effects of single versus repeated administration of LPS on the kynurenine pathway. Adult C57BL6 mice were given 0.83 mg/kg LPS as a single or a repeated injection (LPS + LPS) and sacrificed after 24, 48, 72, or 120 h. Mice receiving LPS + LPS had significantly elevated brain kynurenine levels at 24 and 48 h, and elevated serum kynurenine at 24, 48 and 72 h. Brain kynurenic acid and quinolinic acid were significantly increased at 24 and 48 h in mice receiving LPS + LPS, whereas serum kynurenic acid levels were significantly decreased at 24 h. The increase of brain kynurenic acid by LPS + LPS was likely unrelated to the higher total dose as a separate group of mice receiving 1.66 mg/kg LPS as single injection 24 h prior to sacrifice did not show increased brain kynurenic acid. Serum quinolinic acid levels were not affected by LPS + LPS compared to vehicle. Animals given repeated injections of LPS showed a more robust induction of the kynurenine pathway in contrast to animals receiving a single injection. These results may be valuable in light of data showing the importance of the kynurenine pathway in psychiatric disorders.

Glutathione s-transferase m1 and t1 gene polymorphisms are not associated with increased risk of gestational diabetes mellitus development.

AIM: The aim of this study was to investigate whether the glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) gene polymorphisms contributed to development of gestational diabetes mellitus (GDM). SUBJECTS AND METHODS: Fifty women with diagnosis of GDM and 50 control individuals without GDM or altered glucose intolerance during their pregnancy were enrolled in the study. Multiplex polimerase chain reaction-restriction fragment length polymorphism method was applied to determine the GSTM1 and GSTT1 gene polymorphisms. Genotypes were determined according to bands detected with the agarose gel electrophoresis. RESULTS: The difference in the frequencies of GSTM1 null genotypes between GDM and control groups was not statistically significant (60% and 54%, respectively). There was no statistically significant difference between GDM and control groups with respect to GSTT1 null genotype rates (22% and 20%, respectively).There was no statistically significant difference between GDM and control groups with respect to GSTT1 null genotype rates (22% and 20%, respectively). CONCLUSION: This study shows no association between GST gene polymorphisms and GDM.

Similar prevalence, different spectrum: IgE-mediated food allergy among Turkish adolescents.

BACKGROUND: Scarcity of reliable data on food allergy prevalence exists in Turkey. We aimed to assess reported and confirmed IgE-mediated food allergy prevalence, and define the spectrum of allergenic food. METHODS: We prospectively evaluated the ISAAC Phase II study population for food allergy. Participants that reported experiencing food allergy symptom in the last year and/or were skin prick test positive for a predefined list of food allergens, were interviewed via telephone, and those considered as having food allergy were invited to undergo clinical investigation, including challenge tests. RESULTS: A total of 6963 questionnaires were available. Parental reported food allergy prevalence and skin prick sensitisation rate were 20.2 ± 0.9% and 5.9 ± 0.6%. According to the above-defined criteria, 1162 children (symptom positive n=909, skin prick test positive n=301, both positive n=48) were selected and 813 (70.0%) were interviewed via telephone. Out of 152 adolescents reporting a current complaint, 87 accepted clinical investigation. There were 12 food allergies diagnosed in nine adolescents, with food allergy prevalence of 0.16 ± 0.11%. The most common foods involved in allergic reactions were walnut (n=3) and beef meat (n=2), followed by hen's egg (n=1), peanut (n=1), spinach (n=1), kiwi (n=1), cheese (n=1), hazelnut (n=1) and peach (n=1). CONCLUSIONS: While parental reported food allergy prevalence was within the range reported previously, confirmed IgE-mediated food allergy prevalence among adolescents was at least 0.16%, and the spectrum of foods involved in allergy differed from Western countries, implying environmental factors may play a role.

The reliability and validity of Turkish version of Childhood Asthma Control Test.

INTRODUCTION: The reliability and validity of Turkish version of Childhood Asthma Control Test (C-ACT). PURPOSE: The management of asthma is an important as well as difficult issue of physician's daily practice particularly in busy clinical settings. C-ACT was created to identify asthma control levels in children aged 4-11 years. Our aim was to evaluate the reliability, validity and responsiveness of C-ACT in a Turkish sample of children with asthma. METHOD: In this multicenter study, 368 children were enrolled. C-ACT was completed every month by parents and patients who were evaluated in 3 visits within 2 month intervals. At each visit, physicians interpret the control level and decided for the treatment step as established in GINA guidelines. RESULTS: The internal consistency reliability of the Turkish version of C-ACT (C-ACT1 to C-ACT5) was found to be 0.82, 0.83, 0.82, 0.82 and 0.80, respectively (reliability statistics, Cronbach's alpha). Test-retest reliability was 0.71. There was significant correlation between C-ACT and physician's assessment of asthma control at visit 1 (r = 0.65, P < 0.001). CONCLUSIONS: Turkish version of C-ACT is an accurate and reliable tool to evaluate asthma control in children aged 4-11 years. Its widespread use may facilitate appropriate assessment of asthma control and may lead to decrease the number of uncontrolled patients.

Mutagenic and antimutagenic properties of some lichen species grown in the Eastern Anatolia Region of Turkey.

All the methanol extracts did not show mutagenic activity in Ames/Salmonella and Z. mays MI test systems. Furthermore, some extracts showed significant antimutagenic activity against 9-AA in Ames test system. Inhibition rates for 9-AA mutagenicity ranged from 25.51% (P. furfuracea - 0.05 microg/plate) to 66.14% (C. islandica - 0.05 microg/plate). In addition, all of the extracts showed significant antimutagenic activity against sodium azide (NaN3) mutagenicity on MI values of Z. mays.

Anaphylaxis in Turkish children: a multi-centre, retrospective, case study.

BACKGROUND: Anaphylaxis is a serious and potentially lethal systemic reaction affecting more than one organ or system. OBJECTIVE: We aimed to describe the demographic characteristics, clinical features, causes, settings, and administered therapy in Turkish children. METHODS: This retrospective, case note study included all children referred to the outpatient clinics of the Pediatric Allergy Departments of the participating study centres from 1 July 1999 to 30 June 2009 for investigation of anaphylaxis or who were seen by us at the moment of the reaction during the same period and who met the clinical criteria of anaphylaxis. RESULTS: Two hundred and twenty-four cases of anaphylaxis were reported in 137 children (88 boys, P = 0.0001). The mean ± SD age at the referral was 7.7 ± 4.2 years (range: 4 months-17 years). Ninety-eight episodes (43.8%) occurred at home. The symptoms were cutaneous in 222 (99.1%) episodes, respiratory in 217 (96.9%), neuro-psychiatric in 118 (52.7%), cardiovascular in 92 (41.1%), and gastrointestinal in 88 (39.3%). Biphasic reaction was reported in seven episodes (3.1%, 95% CI: 1.5-6.3). Death occurred in one case (0.4%, 95% CI: 0.08-2.4). Treatment was available in 158 episodes (70.5%). Of them, 148 (93.7%) received antihistamines, 132 (83.5%) corticosteroids, 51 (32.3%) epinephrine, and 17 (10.8%) beta-2-mimetics. The causative agents were foods in 86 (38.4%) episodes, hymenoptera venom in 84 (37.5%), drugs and medications in 47 (21.0%), and latex in 5 (2.2%). In two episodes (0.9%), the causative agent was unidentified. Allergy to the trigger was known prior to anaphylaxis in 116 (51.8%) episodes. An epinephrine auto-injector had been prescribed for 70 children (51.1%). CONCLUSIONS AND CLINICAL RELEVANCE: Anaphylaxis was seen significantly more in boys. Most of the reactions occurred at home. Foods were the most frequent cause. Epinephrine, the first-line treatment of anaphylaxis, was administered in only a third of the children.

Prevalence, burden, and risk factors of atopic eczema in schoolchildren aged 10-11 years: a national multicenter study.

BACKGROUND: Little is known about the epidemiology of atopic eczema (AE), and studies from the Mediterranean region and the Middle East are limited. OBJECTIVE: We investigated the frequency, burden, and risk factors of AE in a developing country. METHODS: The International Study of Asthma and Allergies in Childhood Phase II questionnaire was used to survey a representative sample of 10 to 11-year-old children in Turkey. Children were examined by allergists, and parents completed standardized questionnaires. RESULTS: Among 6755 children, the prevalence of having eczema during one's lifetime or currently was 17.1% and 8.1%, respectively. The prevalence of visits to the doctor, nocturnal awakening, school absenteeism, and drug usage was 36.3%, 56%, 9.7%, and 28.7%, respectively. Associated factors were current rhinoconjunctivitis (odds ratio [OR], 2.53; 95% confidence interval [CI], 1.99-3.21), current wheezing (OR, 2.10; 95% CI, 1.58-2.79), family history of allergic disease (OR, 1.62; 95% CI, 1.21-2.18), low birth weight (OR, 1.79; 95% CI, 1.08-2.94), and exposure to animals in the first year of life (OR, 1.47; 95% CI, 1.06-2.03). CONCLUSIONS: In a developing Mediterranean country, the prevalence of AE is comparable to that of developed countries in the same region and lower than that observed in developed countries elsewhere. The course of the disease and risk factors of AE probably differ in developing countries.

Influence of education on primary care physicians' knowledge on childhood allergy as a systemic disease and the atopic march.

BACKGROUND: There are many educational events for physicians in different countries covering one or some of the allergic diseases. Most of these educational events have been reported to improve care by the physicians. The aim of this study was to determine the baseline knowledge of general practitioners (GP) regarding the systemic nature of childhood allergy and atopic march, and to assess the influence of an educational event on this baseline knowledge. METHODS: Two hundred and two GPs from five different cities in Turkey who attended education seminars were enrolled. All GPs were received the questionnaire both before and after the seminar. The questionnaire had statements about the systemic nature of childhood allergies and the atopic march, and GPs were asked to mark their degree of agreement as (completely true, partially true, wrong). RESULTS: Mean age of GPs was 38.6±6.0 years. Mean duration after graduation from medical faculty was 13.9±6.5 years. There was significant improvement in answers after education. The statement "Frequency of allergic rhinitis and asthma is not as high as expected in children with atopic dermatitis" was regarded "wrong" by 60.9% but increased to 94.3% after the education (p<0.001). Systemic nature of allergy was approved by 72.8%, which increased to 99% after the education (p<0.001). Adrenalin as first line treatment in anaphylaxis treatment was appreciated by a higher number of GPs with the education (p<0.001). CONCLUSION: Many GPs lack updated information about the systemic nature of paediatric allergic diseases and a single educational event may improve their knowledge significantly.

[False allegations of child sexual abuse and paranoid disorder: a report of 2 cases]. / Çocugun Cinsel Istismari Ile Ilgili Asilsiz Iddialar ve Paranoid Bozukluk: Iki Olgu Sunumu.

Allegations of child sexual abuse have considerable consequences for individuals and society. Herein, we report 2 cases of false allegations of child sexual abuse by mothers diagnosed as paranoid disorder. Case 1, a 31-year-old mother accused her husband of sexually abusing her 3 daughters, aged 2, 4, and 6 years. Case 2 is a 30-year-old mother that went to the public prosecutor with allegations of sexual abuse of her 6-year-old daughter by a nursery teacher and a stranger. Examination of both alleged victims did not reveal objective findings of sexual abuse. Based on psychiatric examinations, both mothers were diagnosed with paranoid disorder. Consequently, the public prosecutor decided not to prosecute. Considering the possibility of false allegations in such cases, psychiatric examination of the complainant should be performed in order to provide accurate information necessary for legal proceedings and to protect the child.

Extent and burden of allergic diseases in elementary schoolchildren: a national multicenter study.

BACKGROUND: Scarcity of standardized, comparable data on allergic diseases in schoolchildren in Turkey requires further multicenter studies based on the use of objective tools in addition to parent-completed questionnaires to improve the validity and reliability of results. METHODS: Using International Study of Asthma and Allergies in Children (ISAAC) Phase II tools, elementary schoolchildren aged 9 to 11 years were surveyed in 5 city centers in different regions of Turkey. RESULTS: We surveyed 6963 children from 70 schools and found that 35% had had at least 1 symptom of allergic diseases in the past year. Based on parental reports, the overall prevalence rates for wheezing, rhinoconjunctivitis, and eczema in the past year were 15.8%, 23.5%, and 8.1%, respectively. The overall frequencies of atopy, flexural dermatitis, and bronchial hyperreactivity were 18.9%, 3.6%, and 24.2%, respectively. There were large variations in the prevalence of both symptoms and objective signs between study centers. Absence from school for at least 1 day was reported for 34.2% of children with a diagnosis of asthma or allergic rhinitis. CONCLUSIONS: Approximately one third of elementary schoolchildren reported symptoms compatible with allergic diseases in the past year. The interregional differences in both symptoms and objective test results are possibly due to differences in environmental conditions. Unfortunately, serious problems are still encountered in the timely and proper diagnosis and treatment of allergic diseases.

Prevalence of immunoglobulin E-mediated food allergy in 6-9-year-old urban schoolchildren in the eastern Black Sea region of Turkey.

BACKGROUND: The prevalence of adverse reactions to food in childhood in Turkey is not known. OBJECTIVE: We aimed to investigate the prevalence and characteristics of IgE-mediated food allergies (FAs) in 6-9-year-old urban schoolchildren. METHODS: This cross-sectional study recruited 3500 of the randomly selected 6-9-year-old urban schoolchildren from the eastern Black Sea region of Turkey during 2006. Following a self-administered questionnaire completed by the parents and the child, consenting children were invited for skin prick tests (SPTs) and oral food challenges. Children with suspected IgE-mediated FA were skin prick tested with a predefined panel of food allergens (milk, hen's egg, soy, wheat, peanut, fish, and hazelnut), aeroallergens (Dermatophagoides pteronyssinus, Dermatophagoides farinae, cat, dog, Alternaria, grass pollen mix, weed pollen mix, and tree pollen mix), and food allergens reported in the questionnaire. All children with a positive SPT to any food were invited for a double-blind, placebo-controlled food challenge (DBPCFC). The prevalence of IgE-mediated FA was established using DBPCFCs. RESULTS: The response rate to the questionnaire was 78.2% (2739/3500). The estimated prevalence of parental-reported IgE-mediated FA was 5.7% (156/2739) [95% confidence interval (CI), 4.83-6.57%]. The rate of sensitization to the food allergens was 33.1% (48/145) in the parental-reported group. The confirmed prevalence of IgE-mediated FA by means of DBPCFC in 6-9-year-old urban schoolchildren living in the eastern Black Sea region of Turkey was 0.80% (22/2739) (95% CI, 0.47-1.13%). The most common allergenic foods were beef (31.8%), cow's milk (18.1%), cocoa (18.1%), hen's egg (13.6%), and kiwi (13.6%). CONCLUSIONS: The rate of reported IgE-mediated FA was significantly higher than clinically confirmed FA by means of DBPCFC (odds ratio, 7.46; 95% CI, 4.67-12.01; P<0.0001). The order of allergenic foods was different and somewhat unique to the eastern Black Sea region of Turkey when compared with western countries.

Crimean-Congo haemorrhagic fever among children in north-eastern Turkey.

AIM: To analyse the epidemiological and clinical features of children with Crimean-Congo haemorrhagic fever (CCHF) in north-eastern Turkey. METHODS: A retrospective study of demographic features and physical and laboratory findings in 21 children with CCHF is described. Clinical course, treatment modalities and outcome were analysed. RESULTS: Most patients were admitted in June and July 2008; most were from the Gumushane and Kelkit valleys and half of them lived in rural areas. Mean (SD) age was 10.3 (3.9) years and the disease was more common in males (71.4%). Approximately 70% had a history of tick bite. The main symptoms were fever (17, 80.9%), nausea (11, 52.3%), malaise (10, 47.6%) and headache (7, 33.3%). At initial examination, approximately 70% of patients had leukopenia and 65% had thrombocytopenia. Anaemia developed during follow-up in six patients. Liver involvement was seen in 12 patients and one patient had acute tubular necrosis. Six patients had haemophagocytosis. Patients were hospitalised for a median 8 days (range 3-22) and nine patients had bleeding from various sites approximately 3-5 days after hospitalisation. Subcutaneous haematoma (6), especially epistaxis and at venepuncture sites (6) were the most common sites of bleeding. Pulmonary haemorrhage developed in two patients and they required ventilatory support. Overall mortality related to CCHF was 4.7% (one patient). CONCLUSION: Early diagnosis of CCHF and early referral to specialised centres are important for outcome. Exceptional epidemics may be seen in future owing to ecological and environmental changes.

Food-dependent exercise-induced anaphylaxis to lentil and anaphylaxis to chickpea in a 17-year-old boy.

We report the case of a 17-year-old boy who experienced 4 episodes of exercise-induced anaphylactic reaction after ingestion of lentil and 2 episodes of anaphylaxis following ingestion of chickpea. His medical history revealed that he had allergic rhinitis with positive results after skin prick tests (SPT) with mites. His SPTs and specific immunoglobulin E antibody testing with lentil and chickpea were positive. Oral challenge with chickpea was not performed due to patient refusal. Treadmill exercise challenge tests in the fasting state and 1 hour after a meal not containing lentil were negative. However, an exercise challenge test 1 hour after intake of lentil soup resulted in pruritus of the hands, forearms, shoulders, and back, urticarial lesions on the face and shoulders, mild angioedema of the lips, and mild hoarseness and cough. To our knowledge, this is the first case of food-dependent exercise-induced anaphylaxis due to lentil.

Quantitative analysis of cotton-polyester textile blends from near-infrared spectra.

Quantitative analysis of textile blends and textile fabrics is currently of particular interest in the industrial context. In this frame, this work investigates whether the use of Fourier transform (FT) near-infrared (NIR) spectroscopy and chemometrics is powerful for rapid and accurate quantitative analysis of cotton-polyester content in blend products. As samples of the same composition have many sources of variability that affect NIR spectra, indirect prediction is particularly challenging and a large sample population is required to design robust calibration models. Thus, a total of more than three-hundred cotton-polyester samples were selected covering the range from the 0% to 100% cotton and the corresponding NIR reflectance spectra were measured on raw fabrics. The data set obtained was used to develop multivariate models for quantitative prediction from reference measurements. A successful approach was found to rely on partial least squares (PLS) regression combined with genetic algorithms (GAs) for wavelength selection. It involved evaluating a set of calibration models considering different spectral regions. The results obtained considering 27.5% of the original variables yielded a prediction error (RMSEP) of 2.3 in percent cotton content. It demonstrates that FT-NIR spectroscopy has the potential to be used in the textile industry for the prediction of the composition of cotton-polyester blends. As a further consequence, it was observed that the spectral preprocessing and the complexity of the model are simplified compared to the full-spectrum approach. Also, the relevancy of the spectral intervals retained after variable selection can be discussed.

Burden of rhinitis in children with asthma.

Although the clinical association of allergic rhinitis and asthma has been recognized for centuries, in recent years the association appears to be stronger than was reported previously. However, data for children are less clear, and some studies indicate that results observed in developing countries may differ from those observed in Western populations. We therefore intended to document the association of rhinitis with pediatric asthma in terms of caregivers' perception, physician practice, and file records. Asthmatic children aged 3-16 years with at least 1-year follow-up in an allergy-asthma outpatient clinic were invited to participate in the study during a 10-month interval. In addition to a face-to-face questionnaire-based interview, file records were evaluated retrospectively to obtain information relating to asthma and rhinitis. Of 396 patients included in the study, 369 with consistent replies were included in the analyses. The mean age of the study group was 10.6 +/- 0.2 (mean +/- SEM) years, and a greater proportion of the respondents were male (63.7%), atopic (78.3%), and mildly asthmatic (50.7%). House dust mite and grass pollens were the most commonly sensitized allergens (50.7% and 46.9%, respectively). Although only 5.4% of our study population regarded themselves as rhinitic and 23.8% had been diagnosed with allergic rhinitis according to the file records, almost 57.7% of patients had required medications for rhinitis within the last year, and 68.8% had findings consistent with allergic rhinitis. Furthermore, 41.2% and 58.8% reported that their rhinitis symptoms caused a significant burden in their daily life and exacerbated their asthma, respectively, and almost 50% felt that their rhinitis had not been given significant consideration by their physician. In conclusion, although we report a large discrepancy between caregivers' perception of rhinitis, documentation in file records, and treatments for rhinitis, the allergic rhinitis prevalence determined in the survey and the medication use for rhinitis appeared to be in agreement. We recommend a greater effort be made to identify, label, and educate children with rhinitis and their families in asthma outpatient clinics.

Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?

We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.