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https://www.readbyqxmd.com/read/28297145/5q14-3-microdeletions-a-contiguous-gene-syndrome-with-capillary-malformation-arteriovenous-malformation-syndrome-and-neurologic-findings
#1
Sung-Min Park, Jeong-Min Kim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Deletions within chromosome region 5q14.3q15 have been associated with a spectrum of disorders including developmental delay, hypotonia, absent speech, mild facial dysmorphism, seizures, and brain anomalies. Some cases of concomitant neurologic abnormalities and cutaneous vascular malformation associated with 5q14.3 deletion have been reported. Previously reported cases had similar features, including multiple capillary malformations, and neurologic abnormalities, including epilepsy, hypotonia, and developmental delay...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28250072/neurocutaneous-disorders-in-children
#2
Bruce R Korf, E Martina Bebin
Neurofibromatosis (NF), including type 1 (NF1), type 2 (NF2), and schwannomatosis; tuberous sclerosis complex (TSC); and Sturge-Weber syndrome are 3 neurocutaneous disorders that typically present in childhood. Early recognition by the pediatrician can be critical to surveillance for treatable complications and genetic counseling. These conditions are diagnosed clinically, but genetic testing is available to clarify an uncertain diagnosis or help with genetic counseling. Although many of the complications can only be treated symptomatically, advances in understanding of the pathogenesis are opening new approaches to molecularly targeted therapeutics, which promise to alter the natural history of the conditions in the years to come...
March 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28248915/-phacing-a-new-cause-of-carotid-artery-dissection
#3
Caterina Kulyk, Filippo Farina, Anna Palmieri, Federica Viaro, Francesco Causin, Anna M Laverda, Claudio Baracchini
INTRODUCTION: Cervical arterial dissection (CAD) is a frequent and preventable cause of ischemic stroke in young patients. Several arguments suggest that genetic and developmental disorders could play an important role as part of a multifactorial predisposition of sporadic CAD.We present 2 cases of young patients with CAD in association with cutaneous lesions and nonatherosclerotic multivessel arteriopathy. CASE REPORTS: Our first patient was a 17-year-old white girl with sudden onset of weakness in her right upper limb...
March 2017: Neurologist
https://www.readbyqxmd.com/read/28215521/orbital-imaging-manifestations-of-neurocutaneous-syndromes-revisited
#4
REVIEW
Abanti Das, Sanjay Sharma
Neurocutaneous syndromes or phakomatoses represent a heterogeneous group of multisystemic disorders involving structures of ectodermal origin. Characteristic ocular manifestations are described for individual entities that are often the first clues to the underlying diagnosis. However, opaque ocular media or involvement of retrobulbar orbit limits adequate clinical evaluation. This underlines the role of imaging, especially cross-sectional imaging modalities, such as computed tomography and magnetic resonance imaging, which offer a comprehensive evaluation of orbit and its contents...
December 30, 2016: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/28207006/papillary-transitional-cell-bladder-carcinoma-and-systematized-epidermal-nevus-syndrome
#5
Adekemi Akingboye, Heather Schultz, Gina A Taylor
Epidermal nevus syndrome (ENS), also known as Solomon syndrome, is a rare neurocutaneous disorder defined by mosaicism. Epidermal nevus syndrome may be associated with a variety of systemic findings, several of which have been described in the literature, including but not limited to central nervous system abnormalities and internal malignancies. There is a paucity of reports of patients with both epidermal nevi and papillary transitional cell bladder carcinoma in the literature. We present a rare case of systematized epidermal nevi associated with development of papillary transitional cell bladder carcinoma in a young woman...
January 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28127866/rare-familial-tsc2-gene-mutation-associated-with-atypical-phenotype-presentation-of-tuberous-sclerosis-complex
#6
Jonah Fox, Shay Ben-Shachar, Shimrit Uliel, Ran Svirsky, Hirotomo Saitsu, Naomichi Matsumoto, Aviva Fattal-Valevski
Tuberous sclerosis complex (TSC) is a neurocutaneous 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. We describe an 18-month-old boy who presented with seizures and a single hypopigmented macule. He did not meet consensus criteria for the clinical diagnosis of TSC. Exome sequencing revealed a heterozygous TSC2 mutation (c.5138G>A (p.Arg1713His)) in the patient. This heterozygous alteration was detected in his mother as well as several other maternal family members...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28126187/sturge-weber-syndrome-a-review
#7
E Higueros, E Roe, E Granell, E Baselga
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma...
January 23, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28087349/combination-of-multiple-ligation-dependent-probe-amplification-and-illumina-miseq-amplicon-sequencing-for-tsc1-tsc2-gene-analyses-in-patients-with-tuberous-sclerosis-complex
#8
Nur Farrah Dila Ismail, Abdul Qawee Rani, Nik Mohd Ariff Nik Abdul Malik, Chia Boon Hock, Siti Nabilahuda Mohd Azlan, Salmi Abdul Razak, Wee Teik Keng, Lock Hock Ngu, Abdul Rashid Silawati, Nor AzniYahya, Narazah Mohd Yusoff, Teguh Haryo Sasongko, Zabidi Azhar Mohd Hussin
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotspots, and common type of mutations, mutation detection in TSC1 and TSC2 genes has been challenging. We devised a combination of multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS) to simplify the detection strategy, yet we come up with reasonably high detection rate...
January 10, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28025990/focal-cortical-dysplasia-molecular-disturbances-and-clinicopathological-classification-review
#9
REVIEW
Monika Siedlecka, Wiesława Grajkowska, Ryszard Galus, Bożenna Dembowska-Bagińska, Jarosław Jóźwiak
Focal cortical dysplasia (FCD) is one of the most important causes of drug-resistant epilepsy in paediatric patients, particularly in those below the age of 3. Even though over 40 years have passed since the first description of the entity by Taylor, the exact mechanisms causing these cortical abnormalities remain unelucidated. In this review, we summarise the current knowledge on clinical and histopathological aspects, taking into account the new classification system proposed by the International League Against Epilepsy...
November 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28004629/manifestations-of-tuberous-sclerosis-complex-the-experience-of-a-provincial-clinic
#10
Colin Wilbur, Chinnuwat Sanguansermsri, Hedi Chable, Mihaela Anghelina, Sharon Peinhof, Kelly Anderson, Paul Steinbok, Ash Singhal, Anita Datta, Mary B Connolly
BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population. METHODS: A retrospective, systematic chart review was performed of children with TSC managed at British Columbia Children's Hospital...
January 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28003905/coexistence-of-autism-spectrum-disorders-among-three-children-with-tuberous-sclerosis-complex-case-reports-and-review-of-literature
#11
Amna Al-Futaisi, Ahmed Idris, Abeer Al-Sayegh, Watfa S Al-Mamari
Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD) and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis...
November 2016: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/27990391/encephalocraniocutaneous-lipomatosis-haberland-syndrome-a-rare-case-report
#12
Ashish Jagati, Bela J Shah, Rima Joshi, Trusha Gajjar
Haberland syndrome or Fishman syndrome also known as encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital neurocutaneous disorder. It is characterized by unilateral involvement of skin, eyes and central nervous system. We report the case of a 28-year-old woman who presented with soft lipomatous swelling over right temporal area with nonscarring alopecia of part of frontal and parietal region. The patient had a history of seizures and ipsilateral scleral dermoid. Computed tomography scan findings were suggestive of lipomas and calcification of falx...
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27980226/novel-phenotypes-of-nf1-patients-from-unrelated-chinese-families-with-tibial-pseudarthrosis-and-anemia
#13
Santasree Banerjee, Dongzhu Lei, Shengran Liang, Li Yang, Saijun Liu, Zhu Wei, Jian Ping Tang
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four unrelated families, showing extreme phenotypic variation with rare phenotype. In family 1, the proband is a 16 months old girl with multiple café-au-lait spots throughout her whole body...
December 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27942471/mixed-vascular-nevus-syndrome-a-report-of-four-new-cases-and-a-literature-review
#14
Martino Ruggieri, Agata Polizzi, Serena Strano, Carmelo Schepis, Massimiliano Morano, Giuseppe Belfiore, Stefano Palmucci, Pietro Valerio Foti, Concetta Pirrone, Vito Sofia, Emanuele David, Vincenzo Salpietro, Kshitij Mankad, Pietro Milone
BACKGROUND: Mixed vascular nevus (or nevus vascularis mixtus) represents an admixture of cutaneous vascular malformations of the telangiectatic type and angiospastic spots of nevus anemicus. It can occur as an purely cutaneous trait or as a hallmark of a neurocutaneous phenotype (mixed vascular nevus syndrome) characterised by the combination of: (I) paired vascular (telangiectatic and anemic) twin nevi and brain abnormalities of the Dyke-Davidoff-Masson type (i.e., crossed cerebral/cerebellar hemiatrophy with hypoplasia of the ipsilateral cerebral vessels and homolateral hypertrophy of the skull and sinuses (hyperpneumatisation) with contralateral hemispheric hypertrophy); or (II) paired vascular twin nevi and brain malformations of the Dyke-Davidoff-Masson type in association with systemic abnormalities consisting in facial asymmetry, skeletal anomalies (i...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#15
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
February 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27735809/celiac-disease-phylloid-hypomelanosis-and-autoimmune-thyroiditis-a-case-report
#16
Mahya Sultan Tosun, Vildan Ertekin
Pigmentary mosaicism is a term used to encompass all of these different types of pigmentary patterns. Among these mosaic patterns, there have been only a few reports of the phylloid presentation in the literature. On the other hand, autoimmune disorders can be associated with neurocutaneous markers and syndromes. A fifteen-year-old girl was presented for chronic diarrhea and abdominal pain. Her physical examination had determined multiple hypopigmented patches. Finally, she was diagnosed phylloid hypomelanosis together with partial trisomy 13 accompanying celiac disease and autoimmune thyroiditis...
November 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27539768/hemiplegia-following-mild-head-injury-in-a-child-with-sturge-weber-syndrome-a-diagnostic-dilemma
#17
Shameem Ahmed, Siba Prosad Paul
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder with skin, eye, and brain involvement. Hemiplegia in children with SWS after a mild head injury is known to occur in up to one-fifth of cases. A3-year male child presented with a sudden onset hemiplegia following a mild head injury. He was known to have seizure disorder and was being treated with sodium valproate. CTscan of the brain showed contusion. He was admitted for neurological observations and the patient made complete recovery with conservative treatment...
August 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27465244/brief-report-the-prevalence-of-neurofibromatosis-type-1-among-children-with-autism-spectrum-disorder-identified-by-the-autism-and-developmental-disabilities-monitoring-network
#18
Deborah A Bilder, Amanda V Bakian, David A Stevenson, Paul S Carbone, Christopher Cunniff, Alyson B Goodman, William M McMahon, Nicole P Fisher, David Viskochil
Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder associated with neurodevelopmental disorders including autism spectrum disorder (ASD). The frequency of ASD/NF1 co-occurrence has been subject to debate since the 1980s. This relationship was investigated in a large population-based sample of 8-year-old children identified with ASD (N = 12,271) by the Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring (ADDM) Network. Twenty-two (1-in-558) children with ASD had diagnosed NF1, exceeding NF1 general population estimates by four to five fold...
October 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27462357/a-rare-case-of-sjogren-larsson-syndrome-with-recurrent-pneumonia-and-asthma
#19
Azita Tavasoli, Shirin Sayyahfar, Babak Behnam
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma...
June 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27432683/neurocutaneous-syndromes
#20
REVIEW
Nitasha Klar, Bernard Cohen, Doris D M Lin
Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases...
2016: Handbook of Clinical Neurology
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