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Le Eileen M EM Department of Neuro-Oncology, University of Texas MD Anderson Cancer Center, P.O. Box 301402, Unit #431, Houston, TX, 77232-1402, USA, - - 2014
Posterior reversible encephalopathy syndrome is a well-recognized entity associated with a variety of benign and malignant conditions. This syndrome typically manifests itself with headache, visual loss, and seizures. Radiographic abnormalities consist of white matter edema involving the posterior parietal and occipital lobes, manifested as increased T2 and fluid-attenuated inversion recovery ...
Maeda Yumi Y 1 Athinoula A. Martinos Centre for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Charlestown, MA, 02129, - - 2014
Carpal tunnel syndrome, a median nerve entrapment neuropathy, is characterized by sensorimotor deficits. Recent reports have shown that this syndrome is also characterized by functional and structural neuroplasticity in the primary somatosensory cortex of the brain. However, the linkage between this neuroplasticity and the functional deficits in carpal tunnel syndrome ...
Junewar V V From the Departments of Neurology (V.J., R.V., R.K.G., M.K.S., H.S.M., P.K.S.), Obstetrics and Gynecology (P.L.S.), and Radiodiagnosis (A.P.), King George's Medical University, Lucknow, - - 2014
Posterior reversible encephalopathy syndrome is associated with eclampsia. We assessed the distribution and nature of typical and atypical cranial MR imaging findings in these patients and their correlation with clinical and laboratory data and predictors of outcome. Forty-five clinically confirmed cases of eclampsia were included in this prospective observational study. ...
Leng Yinglin Y Department of Neurology, Peking University First Hospital , Beijing , China - - 2014
Abstract Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh (MELAS/LS) overlap syndrome is a mitochondrial disorder subtype with clinical and magnetic resonance imaging (MRI) features that are characteristic of both MELAS and Leigh syndrome (LS). Here, we report an MELAS/LS case presenting with cortical deafness and seizures. Cranial MRI revealed ...
Kameda Tomoaki T Department of Neurology, Jichi Medical University, - - 2014
Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache and reversible cerebral vasoconstriction on angiographic findings. It can be difficult to diagnose when initial angiography is normal. A 30-year-old woman was admitted because of sudden-onset thunderclap headache and seizure on postpartum day 7. Brain MRI on fluid-attenuated inversion recovery (FLAIR) ...
Engineer Crystal T CT School of Behavioral and Brain Sciences, The University of Texas at Dallas, 800 West Campbell Road GR41, Richardson, TX 75080, United States. Electronic address: - - 2014
Fragile X syndrome is the most common inherited form of intellectual disability and the leading genetic cause of autism. Impaired phonological processing in fragile X syndrome interferes with the development of language skills. Although auditory cortex responses are known to be abnormal in fragile X syndrome, it is not clear ...
Disciglio Vittoria V Medical Genetics, University of Siena, Siena, - - 2014
Phelan-McDermid syndrome (22q13.3 deletion syndrome) is a contiguous gene disorder resulting from the deletion of the distal long arm of chromosome 22. SHANK3, a gene within the minimal critical region, is a candidate gene for the major neurological features of this syndrome. We report clinical and molecular data from a ...
Gorovoy Ian R IR Department of Ophthalmology, University of California-San Francisco, San Francisco, California. Electronic address: - - 2014
A previously healthy 9-year-old girl presented with ataxia, headaches, and nausea of 1 month's duration. Magnetic resonance imaging demonstrated a large posterior fossa mass. Posterior segment examination revealed pigmented ocular fundus lesions (POFLs), which included cometoid dark lesions with depigmented tails and smaller, dark midperipheral lesions. The patient underwent resection for ...
Sampath Kumar N S NS Department of Neurology, Narayana Medical College, Nellore, Andhra Pradesh, India. Electronic address: - - 2014
"Eight-and-a-half" syndrome is "one-and-a-half" syndrome (conjugated horizontal gaze palsy and internuclear ophthalmoplegia) plus ipsilateral fascicular cranial nerve seventh palsy. This rare condition, particularly when isolated, is caused by circumscribed lesions of the pontine tegmentum involving the abducens nucleus, the ipsilateral medial longitudinal fasciculus, and the adjacent facial colliculus. Its recognition ...
Gresz Veronika V Department of Oral Diagnostics, Semmelweis University, Szentkiralyi utca 47, H-1088, Budapest, - - 2014
In our current work in vivo examination of AQP5 distribution in labial salivary glands following stimulation of secretion has been done in normal individuals and in Sjögren's syndrome patients. For this study, we selected 5 patients with primary Sjögren's syndrome (mean age 62,4 + 10,6 SD years) diagnosed in accordance ...
Andersen Richard A RA Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA. Electronic address: - - 2014
Optic ataxia is a high-order deficit in reaching to visual goals that occurs with posterior parietal cortex (PPC) lesions. It is a component of Balint's syndrome that also includes attentional and gaze disorders. Aspects of optic ataxia are misreaching in the contralesional visual field, difficulty preshaping the hand for grasping, ...
Sakurai Yasuhisa Y a Department of Neurology , Mitsui Memorial Hospital , Tokyo , - - 2014
We report a Japanese-speaking monolingual woman who developed foreign accent syndrome (FAS) following an infarction in the precentral and premotor cortices (Brodmann Area 6) at and around the inferior frontal sulcus. Her speech sounded Chinese or Korean to our bilingual coauthor who speaks Chinese and Japanese. Quantitative acoustic analyses of ...
Giancotti A A Department of Obstetrics, Gynecology and Urologic Sciences, Umberto I Hospital, "Sapienza" University, Viale del Policlinico 155, 00161, Rome, Italy, - - 2014
The birth prevalence of Apert syndrome is estimated at 1:64,500 and accounts for about 4.5 % of all craniosynostosis with a male/female ratio equal to 1:1. It is associated to allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Majority cases are sporadic. Prenatal ultrasound diagnosis is based on ...
Navinan Mitrakrishnan Rayno - - 2014
Posterior reversible encephalopathy syndrome is a presentation which is diagnosed clinico-radiologically. The primary aetiological processes leading to posterior reversible encephalopathy syndrome are many, which include autoimmune conditions. Polyarteritis nodosa as an aetiological factor for posterior reversible encephalopathy syndrome is rare. We present a case of polyarteritis nodosa complicated by posterior ...
Iulita M Florencia MF 1 Department of Pharmacology and Therapeutics, McGill University, 3655 Sir-William-Osler Promenade, Montreal, H3G1Y6, - - 2014
Basal forebrain cholinergic neurons play a key role in cognition. This neuronal system is highly dependent on NGF for its synaptic integrity and the phenotypic maintenance of its cell bodies. Basal forebrain cholinergic neurons progressively degenerate in Alzheimer's disease and Down's syndrome, and their atrophy contributes to the manifestation of ...
Whitwell Jennifer L JL Department of Radiology, Mayo Clinic, Rochester, MN, USA. Electronic address: - - 2014
Corticobasal syndrome (CBS) and progressive supranuclear palsy syndrome (PSPS) are atypical parkinsonian syndromes that are both associated with white matter tract degeneration. However, little is known about how patterns of degeneration compare across these two syndromes. Twenty-seven subjects, nine with CBS and eighteen with probable or definite PSPS (9 pathologically ...
Hallengren Jada J JJ University of Alabama at - - 2014
Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, ataxia, and unusually happy affect. The hippocampal pyramidal cells of Angelman syndrome model mice have altered intrinsic membrane properties, which Kaphzan et al. (2013) demonstrate can be corrected by genetic reduction of the α1-subunit of the sodium-potassium ATPase. Intriguingly, this ...
Romagnoli Vittorio V Department of Mother and Child Health, Salesi University Children's Hospital, Ancona, - - 2014
Middle lobe syndrome in children is a distinct clinical and radiographic entity that has been well described in the pediatric literature. However, issues regarding its etiology, clinical presentation, and management continue to puzzle the clinical practitioner. Pathophysiologically, there are two forms of middle lobe syndrome, namely obstructive and nonobstructive. Middle ...
Oiglane-Shlik Eve E Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia. Electronic address: - - 2014
Monosomy 1p36 is the most common subtelomeric deletion syndrome seen in humans. Uniform features of the syndrome include early developmental delay and consequent intellectual disability, muscular hypotonia, and characteristic dysmorphic facial features. The gene-rich nature of the chromosomal band, inconsistent deletion sizes and overlapping clinical features have complicated relevant genotype-phenotype ...
de Mattos Vinicius Freitas VF Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, - - 2014
Gómez-López-Hernández syndrome is a rare genetic disease characterized by scalp alopecia with trigeminal anesthesia, brachycephaly or turribrachycephaly, midface retrusion, and rhombencephalosynapsis. We report the second case with this condition who presented with consanguineous parents. This boy was evaluated shortly after birth because of suspected craniosynostosis. He was the only son of healthy, ...
Lohan Silke S Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, - - 2014
Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. The genetic basis of LSS is currently unknown. LSS shows phenotypic overlap with Haas type polysyndactyly (HTS) regarding ...
Ptak Radek R Laboratory of Cognitive Neurorehabilitation, Faculty of Medicine, University of Geneva, Geneva, Switzerland, - - 2014
Bálint syndrome is a combination of severe deficits affecting spatial attention, visuo-motor control and oculomotor function. While the severe restriction of attention (simultanagnosia) and impairments of visually guided reaching have been extensively studied, oculomotor apraxia has received comparatively little attention. The main explanatory hypothesis of oculomotor apraxia is that it ...
Chung Eun Joo EJ Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of - - 2014
Perry syndrome (PS) caused by DCTN1 gene mutation is clinically characterized by autosomal dominant parkinsonism, depression, severe weight loss, and hypoventilation. Previous pathological studies have reported relative sparing of the cerebral cortex in this syndrome. Here, we characterize novel clinical and neuroimaging features in 3 patients with PS. (18)F-fluorinated N-3-fluoropropyl-2-ß-carboxymethoxy-3-β-(4-iodophenyl) ...
Agarwal Rajkumar R Department of Pediatrics, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan; Department of Neurology, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan. Electronic address: - - 2014
We report a patient with hemolytic uremic syndrome who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome. A 13-year-old girl presented with fever and bloody diarrhea and progressed to develop hemolytic uremic syndrome. She subsequently developed encephalopathy, aphasia, and right-sided weakness. Brain magnetic ...
Panda Akhila Kumar AK Department of Neurology, Institute of Human Behaviour & Allied Sciences (IHBAS), Delhi, Delhi, - - 2014
Organophosphate (OP) poisoning is a common occurrence in the rural areas of developing countries like India. Acute cholinergic crisis is one of the important causes of mortality related to OP poisoning. Delayed peripheral neuropathy, extrapyramidal syndromes and neuropsychiatric manifestations are the major consequences of secondary neuronal damage. This case illustrates ...
Panda Shasanka Shekhar SS Department of Pediatric Surgery, All India Institute of Medical Sciences (AIIMS), New Delhi, - - 2014
Poland syndrome is characterised by unilateral absence of the large pectoral muscle, ipsilateral symbrachydactyly and occasionally other malformations of the anterior chest wall and breast. The condition is more frequent among men and usually occurs on the right hemithorax in the unilateral form. This case is unique because we believe ...
Iwanami Hiroaki H Department of Neurology, Showa University School of - - 2014
A 73-year-old man developed double vision and a progressive loss of visual acuity of the left eye over one week. Examination showed disturbances of the left II, III, IV, and VI cranial nerves, that is, an orbital apex syndrome. A brain MRI showed abnormal T2-high signals in the right maxillary ...
Sharkia Rajech R The Triangle Regional Research and Development Center, P, O, Box-2167, Kfar Qari' 30075, Israel. - - 2014
Sanfilippo syndrome type A (mucopolysaccharidosis IIIA - MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by a deficiency in sulfamidase. Two daughters (13 and 11 years old) of a consanguineous Palestinian family from the Israeli Arab community were investigated clinically and genetically for the presence of progressive neurodegenerative ...
Ali Zahra Z University of Texas Southwestern Medical Center, Department of Ophthalmology, Dallas, - - 2014
To describe the phenotypic characteristics and clinical course of a sporadic case of congenital fibrosis of the extraocular muscles (CFEOM) and Möbius syndrome with a de novo mutation in the KIF21A gene encoding a kinesin motor protein. An individual with the rare combination of CFEOM and Möbius syndrome underwent comprehensive ...
Tauber Maithe M Centre de référence du syndrome de Prader-Willi, Hôpital des Enfants, CHU de Toulouse, Toulouse, - - 2014
Prader-Willi syndrome (PWS), first described in 1956, is considered as a paradigm of a neurodevelopmental disorder with severe and early obesity with hyperphagia and impaired satiety. The improved knowledge in the natural history and recent data on genetics offer new perspectives for understanding the metabolic and endocrine dysfunctions and possibly ...
Sakakura Kazuki K Department of Neurosurgery, Faculty of Medicine, University of - - 2013
Marfan syndrome can demonstrate tortuous and elongated intracranial arteries. However, these arteries rarely cause neurovascular compression resulting in hemifacial spasm or trigeminal neuralgia. Theauthors report a 33-year-old woman who was diagnosed as Marfan syndrome, suffered from trigeminalneuralgia. Magnetic resonance (MR) angiography showed tortuous and elongated left vertebral artery (VA). The ...
Yildiz Adalet Elcin AE Department of Radiology, Ankara University School of Medicine, 06100 Ankara, Turkey. Electronic address: - - 2013
The term nutcracker syndrome refers to compression of left renal vein between aorta and superior mesenteric artery causing renal venous hypertension. Right nutcracker syndrome associated with a left-sided inferior vena cava is an extremely rare anomaly. Reported two cases in English literature were diagnosed by ultrasonography and computed tomography angiography ...
La Piana Roberta R Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, - - 2013
Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutières syndrome is characterized by leukoencephalopathy, brain atrophy and intracranial calcifications. To date, bilateral striatal necrosis has not been reported in patients with AGS. We report on two patients with clinical ...
Yamamoto Toshiyuki T Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, - - 2013
Interstitial deletions of the 11p13 region are known to cause WAGR (Wilms tumor, aniridia, genitourinary malformation, and "mental retardation") syndrome, a contiguous gene deletion syndrome due to haploinsufficiencies of the genes in this region, including WT1 and PAX6. Developmental delay and autistic features are major complications of this syndrome. Previously, ...
Giorgianni Andrea A Department of Neuroradiology, Circolo Fondazione Macchi Hospital; Varese, Italy - - - 2013
Lhermitte-Duclos disease is a rare pathologic condition consisting of a dysplastic gangliocytoma of the cerebellum. Its association with phacomatosis and an autosomal dominant neoplastic syndrome, Cowden's syndrome is also known. Modern neuroimaging contributes to a correct diagnosis and pre- and postoperative evaluation. Here we describe the morphologic and metabolic aspects ...
Abdel-Salam Ghada M H - - 2013
Rhombencephalosynapsis (RES) is a rare hindbrain malformation that could occur in isolation or as a part of a syndrome for example, Gómez-López-Hernández syndrome (GLH) or VACTERL-H. We identified male patient with severe RES. Ventriculomegaly, agenesis of septum pellucidum, very thin corpus callosum with interhemispheric cyst were additional neuroimaging findings. He ...
Azzi Salah - - 2013
The imprinted human 11p15.5 region encompasses two imprinted domains important for the control of fetal growth: the H19/IGF2 domain in the telomeric region and the KCNQ1OT1/CDKN1C domain in the centromeric region. These two domains are differentially methylated and each is regulated by its own imprinting control region (ICR): ICR1 in ...
Hua Le H LH Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, NV, United States. Electronic address: - - 2013
We describe a typical case presentation of Susac syndrome with a novel MRI finding of cervical spinal cord involvement. A 25-year-old, 14-week gestation white woman presented with two episodes of encephalopathy, responsive to steroids, with abnormal brain magnetic resonance imaging (MRI) concerning for Susac syndrome. Further studies confirmed the clinical ...
Ekeke Chigozirim N - - 2013
We report a patient with congenital absence of the left pericardium with development of progressive annuloaortic ectasia and aortic insufficiency during a 12-year period. The patient was treated with a Bentall procedure. Pathologic examination of the aorta revealed cystic medial necrosis. The surgical management and a possible association between congenital ...
Lee Yun-Jin YJ Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, - - 2013
We report the case of a 17-year-old Korean girl with systemic lupus erythematosus (SLE) who presented with sudden weakness of the right-sided extremities and dysarthria. Oral prednisolone was being taken to control SLE. Results of clinical and laboratory examinations did not show any evidence of antiphospholipid syndrome or thromboembolic disease ...
Wolpe Noham - - 2013
The volitional impairments of alien limb and apraxia are a defining feature of the corticobasal syndrome, but a limited understanding of their neurocognitive aetiology has hampered progress towards effective treatments. Here we combined several key methods to investigate the mechanism of impairments in voluntary action in corticobasal syndrome. We used ...
Bosemani Thangamadhan - - 2013
Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. The clinical phenotypes of CS and Angelman syndrome (AS) are similar. Differentiation between CS and AS is important in terms of genetic counseling. We report on ...
Simon Neil G - - 2013
A 32-year-old woman presented with a 5-year history of left shoulder pain, medial hand and forearm numbness, and progressive hand weakness and atrophy. Electrodiagnostic studies were characteristic of true neurogenic thoracic outlet syndrome,(1) and a chest X-ray showed bilateral elongated C7 transverse processes. High-resolution ultrasound studies revealed compression of the ...
Erro Roberto - - 2013
A 76-year-old man presented with a 4-year history of a progressive parkinsonian syndrome. It started with slowness of gait and mood dysfunction. Symptoms slowly progressed and further included occasional unexplained falls. On examination, he showed a severe parkinsonian syndrome featuring bradykinesia, rigidity (axial > appendicular), and positive pull-test finding. Moreover, there was ...
Sonam Kothari - - 2013
Background: Mutation in the SURF1 is one of the most common nuclear mutations associated with Leigh syndrome and cytochrome c oxidase deficiency. This study aims to describe the phenotypic and imaging features in four patients with Leigh syndrome and novel SURF1 mutation. Methods: The study included four patients with Leigh ...
Uike Kiyoshi - - 2013
Loeys--Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2). We report a 7-year-old Japanese boy with Loeys--Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). ...
Wenwei Chen - - 2013
We report a rare case of left nutcracker syndrome and right ureteropelvic junction obstruction in a young woman who suffered flank pain and hematuria. The diagnosis was confirmed with the help of Doppler ultrasonography, retrograde pyelography, magnetic resonance angiography, and magnetic resonance urography. A surgery that involves left renal vein ...
Tzarouchi L C - - 2013
BACKGROUND AND PURPOSE:Histopathologic studies have demonstrated WM damage in primary Sjögren syndrome. The purpose of this study was to evaluate WM microstructural changes by use of DTI-derived parameters in patients with primary Sjögren syndrome.MATERIALS AND METHODS:DTI was performed in 19 patients with primary Sjögren syndrome (age, 64.73 ± 9.1 years; ...
Patay Z - - 2013
BACKGROUND AND PURPOSE:Posterior fossa syndrome is a severe postoperative complication occurring in up to 29% of children undergoing posterior fossa tumor resection; it is most likely caused by bilateral damage to the proximal efferent cerebellar pathways, whose fibers contribute to the Guillain-Mollaret triangle. When the triangle is disrupted, hypertrophic olivary ...
Shimizu Yukie - - 2013
Posterior reversible encephalopathy syndrome (PRES) is characterized by reversible vasogenic edema affecting the subcortical white matter of bilateral occipital and parietal lobes. We describe a case of isolated posterior fossa involvement of PRES which occurred during remission induction chemotherapy for T-cell acute lymphoblastic leukemia. Both the brainstem and cerebellum were ...
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