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https://www.readbyqxmd.com/read/29681082/worries-and-needs-of-adults-and-parents-of-adults-with-neurofibromatosis-type-1
#1
Andre B Rietman, Hanneke van Helden, Pauline H Both, Walter Taal, Jeroen S Legerstee, AnneLoes van Staa, Henriette A Moll, Rianne Oostenbrink, Agnies M van Eeghen
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder associated with lifelong tumor growth propensity and neurocognitive impairments. Although follow-up of adults with NF1 often focuses on tumor growth, follow-up of cognitive or social problems and other NF1-related comorbidity is often not a part of standardized care. In order to provide optimal care services for these patients, we explored the care needs of adults with NF1. A qualitative study was performed using semi-structured group interviews, exploring worries and care needs in medical, psychological, and socioeconomic domains, also focusing on the transition from pediatric to adult care...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29674168/spikes-might-precede-seizures-and-predict-epilepsy-in-children-with-sturge-weber-syndrome-a-pilot-study
#2
Claire Bar, Anna Kaminska, Rima Nabbout
PURPOSE: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a facial port-wine stain, a glaucoma, and a leptomeningeal angioma. Epilepsy occurs in more than 75% of affected children, and seizures occurring in the first year of life are associated with a poor neurological prognosis. The aim of this study was to identify possible predictive markers of epilepsy on electroencephalogram (EEG) performed prior to seizure onset in children with SWS. METHODS: This study included children with a diagnosis of SWS who had an EEG performed prior to seizure onset...
March 28, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29607552/pathophysiology-and-management-of-glaucoma-associated-with-phakomatoses
#3
REVIEW
Alisa T Thavikulwat, Deepak P Edward, Abdulrahman AlDarrab, Thasarat S Vajaranant
The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe...
April 1, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29541691/acute-primary-angle-closure-in-sturge-weber-syndrome
#4
Wei-Wen Su
Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by facial cutaneous venous dilatation (port-wine stain), leptomeningeal angioma, and ocular abnormalities. Here we report a case of SWS who experienced acute primary angle-closure in the same side of the nevus flammeus. Observations: A 64-years-old female patient with SWS port wine stain on the left side of her face was referred to our ER for acute primary angle-closure (PAC). The IOP was 64 mmHg in the left eye (12 mmHg in OD) and the visual acuity was 20/100...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29529539/evolution-of-a-rare-ecg-pattern-in-an-aggressive-case-of-neonatal-tuberous-sclerosis-complex
#5
Federica Iezzi, Andrea Quarti, Alessandro Capestro, Francesca Chiara Surace, Marco Pozzi
INTRODUCTION: Rhabdomyomas are the most frequent cardiac tumors in children. Furthermore, they are often associated to tuberous sclerosis complex, an autosomal dominant neurocutaneous disorder characterized by tumor-like malformations that involve many organ systems. PRESENTATION OF THE CASE: We describe a rare ECG pattern in a severe case of neonatal tuberous sclerosis complex. DISCUSSION: In the presence of significant rhabdomyomatosis related to tuberous sclerosis, multiple clusters of rhabdomyoma-like cells can infiltrate the myocardium, with increased fibrosis areas...
2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29500070/screening-for-tsc1-and-tsc2-mutations-using-ngs-in-greek-children-with-tuberous-sclerosis-syndrome
#6
Anna Papadopoulou, Argyrios Dinopoulos, George Koutsodontis, Roser Pons, Pelagia Vorgia, Vasiliki Koute, Athanassios Vratimos, Dimitrios Zafeiriou
Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29476210/a-child-with-apert-syndrome-and-sturge-weber-syndrome-could-fibronectin-or-the-ras-mapk-signaling-pathway-be-the-connection
#7
Ai Peng Tan, Wui Khean Chong
BACKGROUND: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. In 2013, the causative mutation underlying SWS (p...
February 23, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29459606/clinical-and-neuro-radiological-presentation-of-tuberous-sclerosis-complex-in-tertiary-care-centre
#8
G K Kundu, S Ahmed, S Akhter, M T Islam, T Dwa, A M Sabbir
Tuberous sclerosis complex (TSC) is a common neurocutaneous disorder characterized by hamartomatous changes in the lungs, brain, kidneys, skin, heart, and other organs. This retrospective study was done to see the clinical presentation and neuro imaging pattern of TSC in a tertiary care centre of Bangladesh and was conducted at Pediatric Neurology Unit of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from January 2013 to December 2013. Among total 10 patients male-female ratio was 3:2...
January 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29449635/purkinje-cells-derived-from-tsc-patients-display-hypoexcitability-and-synaptic-deficits-associated-with-reduced-fmrp-levels-and-reversed-by-rapamycin
#9
Maria Sundberg, Ivan Tochitsky, David E Buchholz, Kellen Winden, Ville Kujala, Kush Kapur, Deniz Cataltepe, Daria Turner, Min-Joon Han, Clifford J Woolf, Mary E Hatten, Mustafa Sahin
Accumulating evidence suggests that cerebellar dysfunction early in life is associated with autism spectrum disorder (ASD), but the molecular mechanisms underlying the cerebellar deficits at the cellular level are unclear. Tuberous sclerosis complex (TSC) is a neurocutaneous disorder that often presents with ASD. Here, we developed a cerebellar Purkinje cell (PC) model of TSC with patient-derived human induced pluripotent stem cells (hiPSCs) to characterize the molecular mechanisms underlying cerebellar abnormalities in ASD and TSC...
February 15, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29432239/neurocutaneous-disorders
#10
Tena Rosser
PURPOSE OF REVIEW: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. RECENT FINDINGS: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29360893/sj%C3%A3-gren-larsson-syndrome-definitive-diagnosis-on-magnetic-resonance-spectroscopy
#11
Shital Poojary, Mrunal Shah
Sjögren-Larsson syndrome (SLS) is a rare autosomal-recessive neurocutaneous disorder comprising a triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. It has rarely been reported in Asian and Indian populations. We report the case of an Indian patient with SLS who presented with the classical clinical triad and demonstrated characteristic findings on magnetic resonance spectroscopy. In resource-restricted settings where enzymatic and genetic analyses are not available, magnetic resonance spectroscopy serves as a useful adjunct in confirming the diagnosis of SLS...
December 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29274929/intrapericardial-neurofibromatosis-with-coronary-involvement-a-case-report
#12
E A Moghadam, M A Navabi Shirazi, M R Mirzaaghayan, M Nikoufar, A Ghamari
Neurocutaneous syndromes are heterogenous diseases that are diagnosed in the presence of skin and central nervous system disorders. Neurofibromatosis (NF) is one of these disorders, with autosomal dominant inheritance, that causes tumors that grow on nerves as well as other abnormalities such as skin changes and bone deformities. The most common form of NF is type I. A 6-year-old Iranian boy with neurofibromatosis was referred to the pediatric cardiology clinic due to a soft holosystolic murmur discovered on routine examination...
January 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29204211/unusual-cause-of-west-syndrome
#13
Ananthanarayanan Kasinathan, Hansashree Padmanabh, Kirti Gupta, Naveen Sankhyan, Paramjeet Singh, Pratibha Singhi
Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period. Predominant neurological manifestations include epilepsy, intellectual impairment, and focal deficits. Here, we report a 3-year-old girl who presented with epileptic spasms and had a characteristic linear sebaceous nevus...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29181214/atypical-presentation-of-sj%C3%A3-gren-larsson-syndrome
#14
D Papathemeli, A Mataftsi, A Patsatsi, D Sotiriadis, M Samouilidou, S Chondromatidou, A Evangeliou
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#15
MULTICENTER STUDY
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/28981355/abdominal-imaging-findings-in-neurocutaneous-syndromes-looking-below-the-diaphragm
#16
REVIEW
Maria Gosein, Alison Harris, Emily Pang, Paramanand Maharaj, Silvia Chang
OBJECTIVE: Neurocutaneous syndromes are a heterogeneous group of multisystemic disorders. We review the multimodality imaging findings in the disorders with a propensity for intraabdominal disease. We highlight more recently recognized disease patterns and discuss imaging surveillance optimization. CONCLUSION: Knowledge of varied intraabdominal phenotypic expressions can increase diagnostic rates. Limitation of radiation dose must be considered in screening this tumor-prone population...
December 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28978576/bilateral-intracranial-calcifications-with-bilateral-facial-cutaneous-naevus-sturge-weber-syndrome
#17
Muhammad Arif Saeed, Kiran Hilal, Prem Chand
Sturge Weber syndrome also known as mother spot disease belongs to a group of disorders called phakomatoses (neurocutaneous syndromes involving the central nervous and cutaneous systems). It is a congenital disorder of the vasculature of the meninges, brain, face and eyes. Clinically, it usually presents with seizures and other neurological complications, including mental retardation, contralateral hemiparesis and glaucoma. Its incidence is estimated at one case in 20 000-50 000 persons with equal frequency in boys and girls...
October 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28924536/genetic-analyses-of-the-nf1-gene-in-turkish-neurofibromatosis-type-i-patients-and-definition-of-three-novel-variants
#18
S D Ulusal, H Gürkan, E Atlı, S A Özal, M Çiftdemir, H Tozkır, Y Karal, H Güçlü, D Eker, I Görker
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28895704/-novel-mutation-in-tsc2-gene-in-pediatric-patient-with-clinical-diagnosis-of-tuberous-sclerosis
#19
Gabriela Caicedo-Herrera, Estephania Candelo, Harry Pachajoa
Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant disorder that results from mutations within either the TSC1 gene or the TSC2 gene. Diagnosis is based on well-established clinical criteria or genetic criteria. Clinical features are highly variable and could be developing over the life. We present a case of TSC with a molecular test that identified a novel variant in TSC2 gene. It is a sporadic missense mutation which has not been previously reported in the literature. It is caused by premature termination of protein translation and results in the production of truncated and non-functional proteins...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28887276/moyamoya-vasculopathy-in-phace-syndrome-six-new-cases-and-review-of-the-literature
#20
REVIEW
Domenico Tortora, Mariasavina Severino, Andrea Accogli, Carola Martinetti, Nadia Vercellino, Valeria Capra, Andrea Rossi, Marco Pavanello
BACKGROUND: PHACE syndrome (Posterior fossa malformations, large cervicofacial infantile Hemangiomas, Arterial anomalies, aortic coarctation and Cardiac abnormalities, and Eye abnormalities) is a neurocutaneous disorder including posterior fossa malformations, hemangiomas, arterial lesions, cardiac defects, and eye abnormalities. PHACE arteriopathies may be progressive and recently have been categorized based on the risk of acute ischemic stroke, increasing attention to the potentially devastating consequences of cerebrovascular complications in this syndrome...
December 2017: World Neurosurgery
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