Abstract：
BACKGROUND:Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients. METHODS:Patients were enrolled via social networking. Clinical features were investigated by interview, chart review, and physical examination. DNA was extracted from peripheral blood to genotype NTRK1 in patients and their parents. Variants identified were checked against a control cohort by high-throughput sequencing, and the effects of these variants were assessed in silico. RESULTS:Clinical features in five patients were cataloged, and six loss-of-function NTRK1 variants were identified, including a frameshift variant c.963delG, a nonsense variant c.1804C>T, an intron variant c.851-33T>A, and three missense variants c.1802T>G, c.2074C>T, and c.2311C>T. CONCLUSIONS:The results expand the spectrum of clinical and genetic features of congenital insensitivity to pain with anhidrosis and will help facilitate analysis of genotype-phenotype association in the future.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Wang QL,Guo S,Duan G,Ying Y,Huang P,Liu JY,Zhang Xdoi
10.1016/j.pediatrneurol.2016.04.006subject
Has Abstractpub_date
2016-08-01 00:00:00pages
63-9eissn
0887-8994issn
1873-5150pii
S0887-8994(16)30084-4journal_volume
61pub_type
杂志文章abstract：:A 4-year-old male developed encephalitis 2 weeks after the onset of varicella. During his evaluation neuroradiologic procedures documented cerebellar edema and demyelination. Cerebrospinal fluid titers confirmed varicella encephalitis. To our knowledge, this patient is the first reported with focal cerebellar edema, a...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(88)90054-9
更新日期：1988-03-01 00:00:00
abstract：:Neuroblastoma associated with the paraneoplastic syndrome of opsoclonus-myoclonus is well-described. However, presentation with narcolepsy-cataplexy is not well-documented in the literature. Narcolepsy with cataplexy is also rare in children younger than 5 years of age. Here we describe three patients, each presenting...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.12.038
更新日期：2013-07-01 00:00:00
abstract：:Risk factors for mortality of young children with cerebral palsy were studied using a sample of 12,709 children aged 0.5-3.5 years with cerebral palsy who had received services from the State of California between 1980 and 1995. The most powerful prognostic factors for survival were simple functional items: mobility a...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00172-0
更新日期：1998-02-01 00:00:00
abstract：:The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndrom...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/0887-8994(95)00148-9
更新日期：1995-09-01 00:00:00
abstract：:We report the clinical features and the muscle pathology in 2 patients with congenital muscular dystrophy (CMD) secondary to merosin deficiency and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic muscle fibers in all cases. These pathol...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(96)00265-2
更新日期：1997-01-01 00:00:00
abstract：:Polyneuritis cranialis is a rare disorder of multiple cranial nerve palsies without spinal cord involvement. The case reported is of a 10-year-old boy with multiple palsies involving cranial nerves III, IV, V, VI, VII, IX, X, XI, and XII cranial nerves, unilaterally or bilaterally. After initial, unsuccessful treatmen...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.05.002
更新日期：2007-09-01 00:00:00
abstract：:This study assessed the utility of rectal diazepam gel in the home management of prolonged or repetitive seizures in children. Thirty-eight children being prescribed rectal diazepam gel by their clinician were prospectively recruited. Seizures, rectal diazepam use, emergency department visits, and quality of life data...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.03.005
更新日期：2005-09-01 00:00:00
abstract：BACKGROUND:Posterior ischemic optic neuropathy results from ischemia of the retrobulbar aspect of the optic nerve. It presents as acute loss of vision without optic disc swelling. This is rare in children, with only seven cases reported to date. Neuroimaging is frequently used to aid in the diagnosis of acute visual co...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2018.03.014
更新日期：2018-07-01 00:00:00
abstract：:A neuropathologic study was undertaken to examine associated brain damage in patients with fetal and neonatal posthemorrhagic hydrocephalus (PHH). In PHH the association of periventricular leukomalacia and pontosubicular necrosis was not increased, but that of cerebellar subarachnoid hemorrhage and olivo-cerebellar pa...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00183-g
更新日期：1995-10-01 00:00:00
abstract：BACKGROUND:It is well known that febrile seizures are commonly occur in children with exanthem subitum. In this study, we compared the clinical features and backgrounds of patients with complex febrile seizures with and without primary human herpesvirus 6B infection. METHODS:Sixty-two patients were enrolled after expe...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.03.015
更新日期：2020-08-01 00:00:00
abstract：:Central nervous system tumors occur considerably less often in the fetus and neonate than in the older child. They are not entirely the same as those present later in life. Their location, biologic behavior, response to therapy, and histologic types are different. Fetal and neonatal brain tumors (n = 250) were collect...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(02)00459-9
更新日期：2002-11-01 00:00:00
abstract：:We describe a fetal intracerebral hemorrhage associated with familial thrombophilia. Intraventricular and intraparenchymal hemorrhage of the left cerebral hemisphere was diagnosed at 22 weeks of gestation. Neuropathologic examination demonstrated a large germinal zone hemorrhage and ischemic changes secondary to bleed...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.04.027
更新日期：2009-10-01 00:00:00
abstract：:Earlier reports on T2-weighted magnetic resonance imaging (MRI) in the classical form of Pelizaeus-Merzbacher disease seemed to divide the patterns of the high-intensity lesions in the white matter into three subtypes: type I, diffusely hemispheric and corticospinal; type II, diffusely hemispheric without brainstem le...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00212-9
更新日期：1998-04-01 00:00:00
abstract：:Subclinical rhythmic electroencephalogram (EEG) discharge is an uncommon rhythmic EEG pattern that has been reported to occur in adults. It is thought to be a nonspecific finding with little clinical significance. This article reports this EEG pattern in two children and suggests it be called subclinical rhythmic EEG ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00238-7
更新日期：2001-04-01 00:00:00
abstract：:Tumefactive demyelinating lesions may be misdiagnosed as brain neoplasms or abscesses. In this paper, we present four cases of pediatric tumefactive demyelination. Twelve cases of pediatric tumefactive demyelination previously reported in the English literature are also summarized. We describe the neuroimaging charact...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(01)00322-8
更新日期：2002-01-01 00:00:00
abstract：BACKGROUND:Acute flaccid myelitis (AFM) is a rare disease of young children. The typical presentation involves acute-onset flaccid paralysis in one or more extremities with a nonspecific viral prodrome. Long-term outcomes demonstrate that functional recovery plateaus around six to nine months. The purpose of this study...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.06.016
更新日期：2020-10-01 00:00:00
abstract：:This report describes a case of West Nile virus meningoencephalitis in a previously healthy adolescent. Clinical features included fever, altered mental status, and speech difficulty, with subsequent hyperesthesia, ataxia, and motor weakness, all of which eventually resolved completely. Magnetic resonance imaging was ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.03.007
更新日期：2005-09-01 00:00:00
abstract：:Melioidosis from Pseudomonas pseudomallei is common in endemic areas (particularly southeast Asia) and is being recognized with increasing frequency in developed countries. Central nervous system involvement is a rare complication with a high mortality. A patient with multiple cerebral abscesses caused by this organis...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/0887-8994(89)90010-6
更新日期：1989-01-01 00:00:00
abstract：:Hashimoto's encephalopathy is an underdiagnosed, steroid-responsive, progressive or relapsing encephalopathy associated with high titers of serum antithyroid antibodies. Although Hashimoto's encephalopathy is well documented in adults, it is rarely observed or studied in children and adolescents. We describe the clini...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.09.010
更新日期：2011-12-01 00:00:00
abstract：:Postictal psychosis is a state of psychosis following repeated or prolonged complex partial seizures with or without secondary generalization and is well described in adult epilepsy literature. It is sparsely reported in the pediatric literature. This report describes a 12-year-old male presenting with status epilepti...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.10.002
更新日期：2006-05-01 00:00:00
abstract：:An infant, 26 weeks gestation, had a stormy neonatal course; at 10 hours of age, initial cranial ultrasound apparently demonstrated a left subependymal hemorrhage placed somewhat medially with possible extension into the lateral ventricle. These ultrasound findings were present up to and including a study on the seven...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(88)90073-2
更新日期：1988-09-01 00:00:00
abstract：:Alexia without agraphia is a rare disconnection syndrome characterized by the loss of reading ability with retention of writing and verbal comprehension. We report a patient who developed alexia without agraphia after undergoing a biopsy for a malignant glioma involving the left thalamus. A 15-year-old right-handed ma...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/S0887-8994(03)00417-X
更新日期：2004-02-01 00:00:00
abstract：BACKGROUND:Pediatric patients with epilepsy are at risk for low vitamin D levels, increasing the risk for bone fractures, yet standardized bone health screening is not part of routine care. METHODS:We surveyed pediatric neurologists (n = 68) at our center regarding screening practices, using an 11-item survey; constru...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.06.020
更新日期：2020-01-01 00:00:00
abstract：:Fenfluramine therapy has been reported to improve behavior in infantile autism and has been associated with a decrease in abnormally increased blood serotonin content. The primary central effect has not been proved to be serotonergic. Beta-endorphin is involved in the anorexic effect of fenfluramine and may play a rol...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/0887-8994(87)90032-4
更新日期：1987-03-01 00:00:00
abstract：:The aim of this study was to evaluate the added utility of gadolinium administration in the magnetic resonance imaging evaluation of developmental delay in children less than 2 years of age. A computerized retrospective study identified all brain magnetic resonance imaging examinations using gadolinium performed at ou...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.02.014
更新日期：2006-08-01 00:00:00
abstract：:Subacute sclerosing panencephalitis is a rare neurologic disorder of childhood and adolescence. We describe a 16-year-old boy who manifested the disease despite proper vaccinations. He was hospitalized because of bedwetting, involuntary limb movements, abnormal speech, and balance disturbances. Immunoglobulin G antibo...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.01.011
更新日期：2011-06-01 00:00:00
abstract：:Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cau...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.10.014
更新日期：2013-02-01 00:00:00
abstract：:The details of 328 patients with bacterial meningitis, admitted from 1984 through 1993, were obtained from 46 departments of pediatrics of large hospitals through questionnaires. The incidence rate per 100,000 child-years was 2.32, being higher in children aged 0-4 years (rate, 7.22) than 5-15 years (rate, 0.49). The ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(96)00024-0
更新日期：1996-04-01 00:00:00
abstract：BACKGROUND:Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP). METHODS:Hearing impairment was assessed in a registry-derived population-based sample of children with CP. RESULTS:Hearing impairment was documented in 12.7% (27 of 212) with less than a quarter of these (or ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.07.005
更新日期：2014-11-01 00:00:00
abstract：:The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00187-5
更新日期：1995-11-01 00:00:00
