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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 ...
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 ...
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 ...
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 ...
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 ...
Ammannagari Nischala - - 2013
INTRODUCTION: 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. CASE PRESENTATION: We report the ...
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 ...
Ghaffari Nejad Alireza A Professor, Department of Psychiatry, Beheshti Hospital, Kerman University of Medical Sciences, Kerman, - - 2013
Objective: 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 ...
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 ...
Duchnowska Renata - - 2012
Neurological symptoms are uncommon in patients administered sunitinib therapy; however, a few cases of dramatic neurotoxicity attributable to the development of reversible posterior leukoencephalopathy syndrome have been reported. Here, we report a case of a 71-year old woman with severe neurological symptoms occurring during sunitinib therapy for metastatic renal cell ...
Ozdemir Hakan - - 2012
Bezoars are masses, which are commonly encountered in patients after stomach surgery or in those with psychiatric problems, formed by the accumulation of intraluminal nondigestible substances that can lead to obstruction of the stomach and the small intestine. The anatomical changes in the gastrointestinal tract are known to cause bezoar ...
Cronin Hyland - - 2012
Menkes syndrome, also known as kinky-hair disease, is a rare X-linked recessive, lethal, neurodegenerative disorder of impaired copper transport. The disorder typically is characterized by fine, hypopigmented, wiry hair; doughy skin; bone and connective-tissue disturbances; vascular abnormalities that can result in spontaneous hemorrhaging; and progressive neurologic deterioration. These early findings ...
Katulanda Prasad - - 2012
48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome ...
Li Chunjie - - 2012
PURPOSE: To detect the effect and safety of different types of grafts for the prevention of Frey syndrome after parotidectomy. MATERIALS AND METHODS: The following data bases were searched electronically: MEDLINE (using OVID, from 1948 to July 2011), Cochrane Central Register of Controlled Trials (CENTRAL, issue 2, 2011), EMBASE (available ...
Cooper Karen L - - 2012
Stevens-Johnson syndrome is a rare, potentially fatal drug reaction that causes necrosis of epidermal cells. Early recognition of the syndrome is essential to prevent complications. This article discusses identification, complications, and treatment of Stevens-Johnson syndrome.
Leite Inês - - 2012
  Gorham-Stout syndrome is a rare disease characterized by progressive osteolysis leading to disappearance of the bone. Vascular proliferations have been implicated in the pathogenesis of this syndrome. The case of a 7-year-old girl with a prominent invasive lymphatic malformation on the lumbosacral area and massive osteolysis of the pelvic ...
Inoue Yuzaburo - - 2012
Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu arteritis, which is rare in Blau/EOS, but who ...
Ponti Giovanni - - 2012
Characteristic skin neoplasms are associated with a large number of hereditary tumor syndromes and their knowledge and early detection may facilitate the diagnosis of the underlying malignancies. We will review the clinical and dermatopathological aspects of cutaneous and visceral lesions and the recent progresses in understanding the etiology, pathogenesis and ...
Allanson Judith - - 2012
Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few years, several individuals with NMLFS have been reported to have a microdeletion of ...
Gabree Michele - - 2012
Many hereditary cancer predisposition syndromes are associated with cutaneous findings, both benign and malignant. Dermatological examination and histopathology, when combined with a thorough personal and family medical history, play an important role in the diagnosis of cancer predisposition syndromes. Skin findings are an important diagnostic tool for a variety of ...
Bayram Yalcin - - 2012
ABSTRACT: Frey syndrome and facial contour deformity commonly occur after parotid surgery. Although the treatment of established Frey syndrome has focused on medical solutions, surgical solutions to established Frey syndrome have been less reported. Moreover, these methods may not resolve the facial depression. In the presented case here, we used ...
Hossain M M - - 2012
A female child of 10 months age from Netrokona, Bangladesh was admitted in the department of ophthalmology, Mymensingh Medical College Hospital, Mymensingh on 20.01.12 with the complaints of swelling on both her eyes and swelling of area in front of both ears. The child is mentally alert. Her fixation reflex ...
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