Abstract：
:Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. In some neurocutaneous syndromes the abnormal mosaic patterning involve mainly the skin and the nervous system configuring a (true) mosaic neurocutaneous disorder; or an ordinary trait of a neurocutaneous disorder is sometimes superimposed by a pronounced linear or otherwise segmental involvement; or, lastly, a neurocutaneous disorder can occur solely in a mosaic pattern. Recently, the molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades (eg, RAS, MAPK, mTOR, PI3K/AKT and GNAQ pathways), which are often responsible of the mosaic distribution of cutaneous and extra-cutaneous features. In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; microcephaly/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Ruggieri M,Praticò ADdoi
10.1016/j.spen.2015.11.001subject
Has Abstractpub_date
2015-12-01 00:00:00pages
207-33issue
4eissn
1071-9091issn
1558-0776pii
S1071-9091(15)00076-5journal_volume
22pub_type
杂志文章,评审abstract：:The clinical presentation of patients with epileptic encephalopathies can be heterogenous. When attempting to classify a patient's epilepsy syndrome, challenges can arise due to the phenotypic overlap of various epilepsies as well as the different presentations of mutations within the same gene. Genetic testing can be...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2018.04.004
更新日期：2018-07-01 00:00:00
abstract：:Autoimmunity is being increasingly recognized as a cause of neurologic presentations both inside and outside the intensive care unit (ICU) setting. Pediatric autoimmune neurologic diseases likely to be seen in the ICU include autoimmune encephalitidies such as N-Methyl-D-aspartate (NMDA) receptor encephalitis, central...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2014.12.008
更新日期：2014-12-01 00:00:00
abstract：:In recent years, there has been increasing recognition of the impact of childhood stroke and interest in the role of drugs in the acute, chronic, and prophylactic management of this condition. Most treatment strategies are based on studies in adults with stroke, and the relative infrequency of stroke and the heterogen...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2010.10.006
更新日期：2010-12-01 00:00:00
abstract：:Advances in infant cardiac surgery have resulted in a dramatic decline in mortality rates; however, neurological morbidity remains an important concern. The effectiveness of a number of interventional strategies to prevent or minimize brain injury during open heart surgery are currently being investigated. This articl...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(99)80047-3
更新日期：1999-03-01 00:00:00
abstract：:Infants with congenital infections are at high risk for developmental disabilities. Because of this increased-risk status, they require comprehensive, longitudinal follow-up that should begin in the neonatal period with sensory, developmental, and neuromotor assessments as well as neuroradiological imaging. Reassessme...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：
更新日期：1994-09-01 00:00:00
abstract：:Migraine is a commonly occurring headache syndrome in children and adolescents. Half of all individuals destined to have migraine begin their attacks before age 20 years. It is characterized by paroxysmal headache, nausea, vomiting, and desire to sleep. On occasion, dramatic neurological symptoms and signs accompany t...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(05)80023-3
更新日期：1995-06-01 00:00:00
abstract：:Newborn screening has evolved from a single test for a single metabolite to a test that detects more than 90 metabolites on a single blood spot. In the past decade, the panel of newborn-screening disorders has rapidly expanded and will continue to grow as more is discovered about the human genome. It continues to be a...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2008.05.003
更新日期：2008-09-01 00:00:00
abstract：:Scoliosis, common in preadolescent females is a finding which warrants investigation in any other age group or if the clinical or neuroimaging features are atypical even in the preadolescent female. The cause of scoliosis are numerous but include several important conditions some of which are treatable and some of whi...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/s1071-9091(96)80011-8
更新日期：1996-09-01 00:00:00
abstract：:Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with variable expression. The complications are age specific. Neurologic complications include tumors of the peripheral nerves, nerve roots, and plexi; spinal cord compression; dural ectasias; learning disabilities; attention deficit; headaches; seizures...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2006.01.005
更新日期：2006-03-01 00:00:00
abstract：:The possibility of sudden unexpected death in people with epilepsy (SUDEP) is very frightening for parents of a child with epilepsy. The mechanism for SUDEP is unclear but is probably most commonly related to postictal respiratory insufficiency. Occasionally the cause is a cardiac arrhythmia induced by a seizure. Even...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2004.11.005
更新日期：2005-03-01 00:00:00
abstract：:Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic aci...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2018.02.003
更新日期：2018-04-01 00:00:00
abstract：:Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, whic...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2016.10.006
更新日期：2016-08-01 00:00:00
abstract：:Numerous neurosurgical approaches are available for children presenting with hypothalamic hamartomas (HHs) associated with severe epilepsy. A concern regarding the impairment of short-term memory after resective surgery is promoting the exploration of less invasive alternatives like radiosurgery. Gamma knife radiosurg...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2007.03.005
更新日期：2007-06-01 00:00:00
abstract：:The NeuroDevNet Autism Spectrum Disorder Demonstration Project interfaces at many levels with the network's research themes and priorities. Our interdisciplinary team aims to improve understanding of genetic factors underlying vulnerability to autism spectrum disorders (ASDs) to develop better diagnostic strategies an...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2011.02.003
更新日期：2011-03-01 00:00:00
abstract：:Postural tachycardia syndrome is a chronic condition with frequent symptoms of orthostatic intolerance or sympathetic activation and excessive tachycardia while standing, without significant hypotension. Orthostatic symptoms include dizziness, lightheadedness, blurring of vision, near faints, weakness in legs, poor co...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2013.01.001
更新日期：2013-03-01 00:00:00
abstract：:Adults treated in infancy for conditions such as spina bifida and hydrocephalus are not cured of their conditions even after reaching adulthood. However, patients who have received coordinated care within a children's facility are unlikely to find the same type of coordinated care when they become adults. This article...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2009.03.004
更新日期：2009-03-01 00:00:00
abstract：:Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. Caused by a microdeletion on chromosome 22, it manifests in a remarkable variety of symptoms in multiple systems. The most frequent anomalies involve palatal function, facial features...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2007.07.005
更新日期：2007-09-01 00:00:00
abstract：:Significant advancements have been made in early intervention programs for children with Autism spectrum disorder (ASD). However, measuring treatment response for children with ASD is difficult due to the heterogeneity of changes in symptoms, which can be subtle, especially over a short period of time. Here we outline...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2020.100806
更新日期：2020-07-01 00:00:00
abstract：:Migraine is the most frequent type of headache in children. In the 1980s, scientists first hypothesized a connection between migraine and mitochondrial (mt) disorders. More recent studies have suggested that at least some subtypes of migraine may be related to a mt defect. Different types of evidence support a relatio...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2013.09.002
更新日期：2013-09-01 00:00:00
abstract：:Herpes simplex virus type 2 (HSV-2) is known to cause acute retinal necrosis (ARN). The availability of HSV-2-specific polymerase chain reaction tests for diagnostic analysis has greatly increased our ability to discriminate ARN caused by HSV-2 from ARN caused by either herpes simplex virus type 1 or varicella zoster ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2012.02.005
更新日期：2012-09-01 00:00:00
abstract：:The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identi...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2006.06.006
更新日期：2006-06-01 00:00:00
abstract：:Recurrent headaches in children are most often migraines and are based in a genetic predisposition with a low headache threshold. As with any pain experience, there is a large emotional component associated with an attack of migraines that grows in amplitude as the headaches become more frequent and resistant to medic...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2010.04.002
更新日期：2010-06-01 00:00:00
abstract：:The success of transition for children and youth with neurological disorders depends on leadership from the pediatric neurology team to encourage and support the patient's firm knowledge base of the medical condition, gradual acceptance of self-management skills and confident self-advocacy. While the foundations of ef...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2020.100852
更新日期：2020-12-01 00:00:00
abstract：:It was not too long ago that being struck violently in the head or "getting your bell rung" was often brushed off as nothing to worry about. These days the pendulum has swung and there is growing appreciation that this mild traumatic brain injury (mTBI), often called concussion, must be taken seriously and is now on t...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2019.03.008
更新日期：2019-07-01 00:00:00
abstract：:Seizures are a common complication of pediatric brain tumors and their treatment. This article reviews the epidemiology, evaluation, and treatment of seizures in children with brain tumors. Seizures in known brain tumor patients may signify tumor progression or recurrence, or treatment-related brain damage, as well as...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2012.02.010
更新日期：2012-03-01 00:00:00
abstract：:Cyclic vomiting is a variant of migraine that is discussed in depth. The importance of the diagnostic criteria, differential diagnosis, supportive and pharmacologic therapies is stressed. ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1053/spen.2001.23456
更新日期：2001-03-01 00:00:00
abstract：:Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the "biomarker life-cycle" must be understood to avoid false-positive and false-negative results. Molecular...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2017.08.001
更新日期：2017-08-01 00:00:00
abstract：:Pediatric brain tumors should be treated at multispecialty centers where the pediatric neurosurgeon constitutes a critical component to the team. Pediatric brain tumors are relatively rare, and diagnosis is often delayed because of the protean manifestations of these tumors clinically. The tumors can occur anywhere al...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(97)80013-7
更新日期：1997-12-01 00:00:00
abstract：:Ethical issues in the critical care unit frequently arise in children with neurological problems. These ethical issues frequently challenge our medical management of such cases and can be quite problematic. This article reviews key ethical issues that may arise including informed consent, futility, justice/rationing, ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2004.03.012
更新日期：2004-06-01 00:00:00
abstract：:An acute flaccid paraparesis or ascending quadriparesis in an infant or child constitutes a very important pediatric neurology emergency. The Guillain-Barré syndrome (GBS) is the most frequent cause. This is primarily an autoimmune, post-infectious, demyelinating, peripheral nervous system process. A small percentage ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1053/pb.2000.6690
更新日期：2000-06-01 00:00:00
