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Dranovsky Alex A Division of Integrative Neuroscience, - - 2014
A 20-year-old man with a history of congenital central hypoventilation syndrome presented with recent-onset psychosis, catatonia, and a diagnosis of schizophrenia. Psychiatric symptoms were resistant to conventional treatment. A fluorodeoxyglucose positron emission tomography scan of the brain obtained during the hospitalization revealed a hypometabolism distribution more consistent with hypoperfusion than ...
Sethi Karen K Division of Pediatric Critical Care, Department of Pediatrics, - - 2014
Behavioral issues are a frequent problem in the pediatric population. Often, these are evaluated and considered to be psychiatric in origin. We report on a pediatric patient who presented with severe behavioral disturbance and developed organic symptoms including hypoventilation and dysautonomia and who was ultimately diagnosed with ROHHADNET syndrome, a ...
Reilly C C Young Epilepsy Research Department, Lingfield, UK; School of Education, University College Dublin, Dublin, - - 2014
There are a number of neurogenetic syndromes with well described behavioural phenotypes including fragile X syndrome, Prader-Willi syndrome, Williams syndrome and velo-cardio-facial syndrome (VCFS). Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and psychiatric conditions are often associated with the syndromes. Parents (n = 381) of school-aged children with one of ...
Schmitt J E JE From the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania; Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Psychiatry (J.J.Y.) and Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania; and Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, - - 2014
The 22q11.2 deletion syndrome is a common genetic microdeletion syndrome that results in cognitive delays and an increased risk of several psychiatric disorders, particularly schizophrenia. The current study investigates the prevalence of incidental neuroradiologic findings within this population and their relationships with psychiatric conditions. Brain MR imaging from 58 individuals ...
Irani Sarosh R SR Nuffield Department of Clinical Neurosciences, West Wing, Level 6, John Radcliffe Hospital, Oxford, OX3 9DU, UK; MS and Neuroinflammation Center, UCSF Department of Neurology, 675 Nelson Rising Lane, San Francisco, CA, - - 2014
The recent discovery of several potentially pathogenic autoantibodies has helped identify patients with clinically-distinctive central nervous system diseases that appear to benefit from immunotherapy. The associated autoantibodies are directed against the extracellular domains of cell-surface expressed neuronal or glial proteins such as LGI1, the NMDA-receptor and aquaporin-4. The original descriptions ...
Birch R C RC Department of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney, - - 2014
Fragile X-associated tremor ataxia syndrome (FXTAS) is a recently identified X-linked neurodegenerative disorder affecting a proportion of premutation carriers of the Fragile X Mental Retardation 1 (FMR1) gene. Previous research suggests that cognitive and psychiatric features of FXTAS may include primary impairments in executive function and increased vulnerability to mood ...
Teive Hélio A G HA Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, - - 2014
Marcel Proust is one of the most important French writers of the 20th century. His relationship with medicine and with neurology is possibly linked to the fact that his asthma was considered to be a psychosomatic disease classified as neurasthenia. Stendhal's syndrome is a rare psychiatric syndrome characterized by anxiety ...
Chukwuneke Felix - - 2014
Purpose: To review 22 patients with globus pharyngis among a group of 39 patients who presented with burning mouth syndrome and to highlight the clinical presentation and treatment outcome of these oropharyngeal symptoms, often ignored by practicing oral surgeons. Patients and Methods: We carried out a retrospective review of 39 ...
Sarahx O John-Olabode OJ Department of Haematology, Ben Carson School of Medicine, Babcock University Teaching Hospital, Ilishan-Remo, Ogun State, - - 2014
The occurrence of a myeloproliferative disorder in association with an aggressive lymphoproliferative disorder is a distinctly unusual phenomenon. We report a case of concurrent leukaemia-lymphoma syndrome characterized by a BCR/ABL-negative myeloproliferative disease, eosinophilia and a lymphoma. The bone marrow chromosome analysis showed the karyotype 46, XY, t(8;9) (q12; p33), which ...
Grover Sandeep S Department of Psychiatry, Postgraduate Institute of Medical Education & Research, Chandigarh 160012, - - 2014
To find out the prevalence of catatonic symptoms as per the Bush Francis Catatonia rating Scale (BFCRS) in patients with delirium and to evaluate the prevalence of catatonia as defined by Bush Francis Catatonia Screening instrument (BFCSI) and DSM-5 criteria in patients with delirium. Two hundred five consecutive subjects were ...
Hanly John G JG Division of Rheumatology, Department of Medicine and Department of Pathology, Capital Health and Dalhousie University, Halifax, NS B3H 4K4, - - 2014
Nervous system involvement in systemic lupus erythematosus (SLE) can manifest as a range of neurological and psychiatric features, which are classified using the ACR case definitions for 19 neuropsychiatric syndromes. Approximately one-third of all neuropsychiatric syndromes in patients with SLE are primary manifestations of SLE-related autoimmunity, with seizure disorders, cerebrovascular ...
Shah Bhushan B Department of General Surgery, Rural Medical College, Pravara Institute of Medical Sciences, Loni, MH 413736, India ; Contributed equally to the - - 2014
Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities. We herein present a case of a five-year-old Indian child who presented to our clinic with reducible umbilical hernia since birth, mental retardation, and delayed developmental milestones. After meticulous clinical ...
Shiari Reza R Department of Paediatric Rheumatology, Shahid Behshti University of Medical Sciences, Mofid Children's Hospital, Tehran, - - 2014
Systemic Lupus Erythematosus (SLE) is an autoimmune, multisystem disorder with various manifestations. There are limited reports on the neuropsychiatric findings as the first manifestation of SLE in children. Herein, we report a 14-year-old Iranian boy with a two-year history of cognitive dysfunction and behavioural problems as well as a recent ...
Mufaddel Amir A 0000-0002-7981-9881 Community Mental Health Services, Behavioral Sciences Institute, Al Ain Hospital, P.O. Box 1006, Al Ain, United Arab Emirates ; Behavioral Sciences Institute, Al Ain Hospital, Al Ain, United Arab - - 2014
We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile ...
Wong John K F JK The Louise Coote Lupus Unit, Guy's and St Thomas' NHS Foundation Trust, London, - - 2014
A 54-year-old woman diagnosed with primary Sjögren's syndrome in 2007 presented with a 1-year history of visual hallucinations requiring admission to a psychiatric unit. The hallucinations resolved while on olanzapine and hydroxychloroquine but recurred when they were stopped. Despite restarting olanzapine, her visual hallucinations persisted. When she started a tapering ...
Chatterjee Seshadri Sekhar SS Department of Psychiatry, Medical College Kolkata, Kolkata, West Bengal, - - 2014
Although mental retardation is generally associated with Bardet-Biedl (BBS) syndrome, a rare autosomal recessive disorder with multisystem involvement, autism is an unusual comorbidity. An 8-year-old boy presented to our psychiatry department with poor social skills and night blindness. On further assessment autism, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, ...
Salgado Henrique H Hospital de Magalhães Lemos, Rua Professor Álvaro Rodrigues, Porto, 4149-003, Portugal. - - 2014
Mental comorbidities, such as phobia, obsessive compulsive symptoms and anxiety disorders, are common in Williams syndrome. However, psychotic symptoms are rare in these patients. We report a case of psychosis in a patient with Williams syndrome. A 23-year-old Caucasian woman with Williams syndrome arrived at the emergency room with persecutory ...
Wheeler Anne C AC RTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA ; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, - - 2014
Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is ...
Chen Jasper J JJ 0000-0002-5032-5714 Behavioral Health Services, Cheyenne Regional Medical Center, Cheyenne, WY 82001, USA ; Department of Psychiatry, Geisel School of Medicine at Dartmouth College and Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, - - 2014
Background. Brugada syndrome is rare and has been a clinically diagnosable entity since 1992. Its clinical manifestations are highly variable, and while some patients remain asymptomatic, others endure sudden cardiac death. Initial presenting symptoms may include palpitations, seizures, syncope, and nocturnal agonal respiration. The diagnosis of Brugada syndrome relies on ...
Nishio Motonobu M Department of Neurology, Bell Land General - - 2014
A 37-year-old woman presented with psychiatric symptoms. Cerebrospinal fluid analysis revealed pleocytosis and increased protein. The patient was diagnosed with limbic encephalitis on the basis of the clinical course. However, remarkable hyponatremia was noted throughout the clinical course, leading to a diagnosis of cerebral salt wasting syndrome (CSWS). The hyponatremia ...
Pegoraro Luiz F L - - 2013
this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n=10), Prader-Willi syndrome (n=11), and Fragile X syndrome (n=13) ...
Prasanna Bidarahalli Krishna - - 2013
Bezoars are usually confined to the stomach which is seen in individuals with psychiatric illness like trichotillomania, trichophagia and gastric dysmotility. Long standing bezoars may extend into the small intestine leading to a condition known as Rapunzel syndrome. Diagnosis can be established by endoscopy, ultrasonography and computed tomography scan. Treatment ...
Gris Jean-Christophe - - 2013
Antiphospholipid antibodies (aPL) are associated with a wide range of neurological, psychological, and psychiatric manifestations. In addition to clearly delineated purely thrombotic manifestations, which define the neurological contribution to the antiphospholipid syndrome, the strength of the other described associations is highly variable, and the underlying pathophysiological mechanisms are not fully ...
El Harrech Y Y Department of Urology, Military Hospital Avicenne, Marrakech, - - 2013
Self-mutilations of the external genitals in psychiatric patients also known as Klingsor syndrome is a rare urologic trauma. Men with religious conflicts, low self-esteem, unresolved transsexual issues and feelings of guilt are the most vulnerable. This condition requires immediate surgical intervention. Currently replantation involves meticulous microsurgery and has become the ...
Tainwala Ram R RR Department of Dermatology, Lokmanya Tilak Municipal Medical College (LTM Medical College) and Lokmanya Tilak Municipal General Hospital (LTMG Hospital), Mumbai, Maharashtra, - - 2013
Autoerythrocyte sensitization syndrome is a psychologically induced painful bruising condition. Two female, 19 and 30-year-old presented with recurrent episodes of painful ecchymotic bruising over accessible areas of body. In the younger female, episodes were since 3 years and were precipitated by stress and trivial trauma. The elder female presented with ...
Deb Koushik Sinha KS All India Institute of Medical Sciences, New Delhi, - - 2013
Dhat syndrome is described as a culture bound syndrome (CBS). There is an ongoing debate on the nosological status of CBS. Dhat syndrome has been found to be prevalent in different geographical regions of the world. It has been described in literature from China, Europe, Americas, and Russia at different ...
Gaudino Mario - - 2013
Munchausen syndrome is a psychiatric disease characterized by pathological lying and malingering. Patients who are affected can set up such complex and compelling clinical scenarios that they can lead to a bias in the diagnostic process and even to unnecessary surgery. Two cases of Munchausen syndrome misrepresenting acute aortic dissection ...
Zarchi O - - 2013
22q11.2 deletion syndrome (22q11.2DS) and Williams syndrome (WS) are common neurogenetic microdeletion syndromes. The aim of the present study was to compare the neuropsychiatric and neurocognitive phenotypes of 22q11.2DS and WS. Forty-five individuals with 22q11.2DS, 24 with WS, 22 with idiopathic developmental disability (DD) and 22 typically developing (TD) controls ...
Wei Qiang - - 2013
Klinefelter syndrome is a common sex chromosome disorder characterized by the presence of 1 or more extra X chromosomes, and the most prevalent karyotype is 47,XXY. Epidemiological studies have showed that patients with Klinefelter syndrome had a significantly increased risk of psychosis. We presented a case of a patient with ...
Miranda-Sivelo Alberto - - 2013
We present a case of olfactory reference syndrome (ORS) with complaints of bromhidrosis. This patient underwent a lumbar sympathectomy to correct the imagined body odor problem. The patient reported experiencing an improvement after surgery, but later, the olfactory symptoms returned. The main objective with ORS patients should be to begin ...
Yeager Jennifer J - - 2013
Older adults with visual impairment may experience visual hallucinations in the setting of normal cognition and absence of psychiatric illness. This phenomenon is referred to as Charles Bonnet syndrome. Information concerning Charles Bonnet syndrome predominantly comes from case studies. Reassuring the person experiencing the hallucinations they are not suffering from ...
Mufaddel Amir - - 2013
We report on a case of 34 Y.O. male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. The diagnosis of this syndrome is made ...
Basu Aniruddha A Department of Psychiatry, Pt. B.D. Sharma PGIMS, Rohtak, Haryana, - - 2013
Cotard syndrome is a rare psychiatric condition characterized by extreme nihilistic delusions. Catatonia though common, its combination with the Cotard syndrome is exceeding rare and more so the response with the pharmacotherapy as in our case. Since, both are found in organic conditions the importance of studying such a case ...
van der Merwe A E - - 2013
A sternal cleft or bifid sternum is a rare anterior chest wall abnormality. Although several cases have been reported in clinical literature, very little reference has been made to this anomaly in palaeopathological texts. This paper presents a case of superior sternal clefting observed in a middle-aged female with concurrent ...
Castro Simon - - 2013
Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral ...
Wei Randy - - 2013
Our case acts to highlight the numerous presentations of polyglandular autoimmune syndromes. A 62-year-old Taiwanese woman with a history of schizophrenia presented to our emergency department with a brain tumour causing her headaches. She was admitted due to severe anaemia, and after further investigation, the patient was discovered to have ...
Ali A - - 2013
Gitelman syndrome (GS) is a renal tubular disorder of the thiazide-sensitive sodium chloride cotransporter, which is located in the distal tubule of the loop of Henle. We present a rare case of GS complicated by severe hyponatraemia and hypophosphataemia. A 17-year-old boy was admitted to our institution with fever and ...
Fink Max - - 2013
Catatonia, a disorder of movement and mood, was described and named in 1874. Other observers quickly made the same recognition. By the turn of the century, however, catatonia was incorporated as a type within a conjured syndrome of schizophrenia. There, catatonia has lain in the psychiatric classification for more than ...
Tang Alice - - 2013
Cushing's syndrome can present with a spectrum of symptoms; however, it is less recognised that psychiatric symptoms can form part of the clinical presenting features. In the investigations for an organic cause for a psychiatric illness, Cushing's syndrome needs to be considered, especially if there are other features such as ...
Gerace Carmela - - 2013
Isolated behavioural disturbances can mimic psychiatric diseases and delay diagnosis of acute brain disease. We reported the case of a patient with carotid dissection manifesting only with apathetic syndrome that was initially considered as a possible postpartum depression, causing a threatening diagnostic delay.
Al Owesie Rafat M - - 2013
Delirium and neuroleptic malignant syndrome (NMS) are two uncommon syndromes that are often unrecognized or misdiagnosed by the primary physicians as functional psychiatric disorders. The infrequency and the heterogeneity of clinical manifestation, progression and outcome with which those diagnoses are encountered (particularly in chronic rehabilitation settings) make them formidable diagnostic ...
Olry Régis - - 2013
Hieronymus Carl Friedrich Freiherr von Münchhausen (1720-1797) was a famous eighteenth-century teller of extravagant stories. In 1785, Rudolph Erich Raspe anonymously published the first book-form edition of Münchhausen's Tales, and a German translation was made available by Gottfried August Bürger the following year. Since that time, these adventures remained a ...
Salgado João Vinícius - - 2013
Animal models of psychiatric disorders are a challenging but highly relevant issue. Most psychiatric disorders are very heterogeneous syndromes, resulting from multiple and varied causal factors and characterized by symptoms that can only be inferred with significant limitations in non-human models. As constructing a model that reproduces a whole psychiatric ...
Thakur Raghvendra R Department of Obstetrics and Gynecology, Second Hospital of Jilin University, Norman Bethune College of Medicine, Ziqiang Street, Changchun 130041, - - 2013
Posterior reversible leukoencephalopathy syndrome (PRLS) is a neurologic condition, often presents with various clinical manifestations. It is rare during pregnancy. We herein report a case of PRLS in a 31-year-old woman, presented with preeclampsia, diagnosed by computer tomography, and successfully delivered the baby with caesarean section. At discharge, patient was ...
Degerliyurt A A Department of Pediatric Neurology, Ankara Diskapi Children's Hospital, Ankara, - - 2013
Andermann syndrome is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and peripheral neuropathy (ACCPN). People affected by Andermann syndrome have mental retardation, areflexia and severe progressive neuropathy often accompanied by psychiatric symptoms, and they typically die in the third decade of their life. We here ...
Ammannagari Nischala N Department of Internal Medicine, Bassett Medical Center, Cooperstown, NY 13326, USA. - - 2013
Paraneoplastic neuropathies are rare. They are often difficult to diagnose, especially when they precede the diagnosis of cancer. Hodgkin's lymphoma is associated with multiple paraneoplastic neurological syndromes, of which demyelinating polyneuropathies are very unusual. Association with chronic inflammatory demyelinating polyneuropathy is even more uncommon. We report the rare case of ...
Ghaffari Nejad Alireza A Professor, Department of Psychiatry, Beheshti Hospital, Kerman University of Medical Sciences, Kerman, - - 2013
Cotard's syndrome is a rare psychiatric syndrome. Its core symptom is nihilistic ideation or delusion. A female patient with Cotard's syndrome symptoms associated with out of body experience and depersonalization, and complicated grief was referred for evaluation. She believed that she was killed by a creature named "Aal" in the ...
Kim Yangho - - 2012
This article schematically reviews the clinical features, diagnostic approaches to, and toxicological implications of toxic encephalopathy. The review will focus on the most significant occupational causes of toxic encephalopathy. Chronic toxic encephalopathy, cerebellar syndrome, parkinsonism, and vascular encephalopathy are commonly encountered clinical syndromes of toxic encephalopathy. Few neurotoxins cause patients ...
Lo-Castro Adriana - - 2012
KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal abnormalities, and developmental delay. Recently, mutations in ANKRD11 gene have been identified in a subset of patients with KBG syndrome, while a contiguous gene deletion syndrome involving 16q24.3 region (including ANKRD11) was delineated ...
Clayton Emma L - - 2012
The four mammalian phosphatidylinositol 4-kinases, together with the PI(4,5)P(2) depleting 5-phosphatases of the oculocerebrorenal syndrome of Lowe and synaptojanin families, modulate neuronal pools of PI4P lipid and regulate intracellular membrane trafficking in the endocytic and secretory pathways. Dysfunctions in these enzymes have been associated with a broad spectrum of disorders ...
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