Congenital neuropathy with the absence of large myelinated fibers.

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 in...

journal_title：Pediatric neurology

authors： Wang QL,Guo S,Duan G,Ying Y,Huang P,Liu JY,Zhang X

更新日期：2016-08-01 00:00:00

abstract：:A 9-year-old boy with severe growth retardation, mild mental retardation, and hypospadia had a high serum CK level without muscle weakness and atrophy. Muscle biopsy revealed a moderate variation in fiber size with a few necrotic and scattered regenerating fibers. Although muscle membranes were clearly stained by immu...

journal_title：Pediatric neurology

authors： Nagai T,Tuchiya Y,Maruyama A,Sakuta R,Nonaka I

更新日期：1993-05-01 00:00:00

abstract：:Assumption of the vertical position and independent walking are potentially hazardous motor milestones in the developing infant. It has been presumed that the parachute reactions evolved to protect infants from injury during this developmental stage. To determine the relationship between the appearance of the upper an...

journal_title：Pediatric neurology

authors： Jaffe M,Kugelman A,Tirosh E,Cohen A,Tal Y

更新日期：1994-07-01 00:00:00

abstract：BACKGROUND:Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT:We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformati...

journal_title：Pediatric neurology

authors： Meadows JT Jr,Hayes D Jr

更新日期：2014-07-01 00:00:00

abstract：:This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C). The authors reviewed 10 Leigh syndrome patients, including ours, with T8993C. Compared with 18 reported patients with Leigh syndrome caused by a T-to-G mutation at nucleotide 8...

journal_title：Pediatric neurology

authors： Fujii T,Hattori H,Higuchi Y,Tsuji M,Mitsuyoshi I

更新日期：1998-03-01 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

authors： Har-Even R,Aichenbaum S,Rabey JM,Livne A,Bistritzer T

更新日期：2011-06-01 00:00:00

abstract：:This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...

journal_title：Pediatric neurology

authors： Cantarín-Extremera V,Duat-Rodríguez A,González-Gutiérrez-Solana L,López-Marín L,Armangue T

更新日期：2013-05-01 00:00:00

abstract：BACKGROUND:Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. A better understanding of genotype-phenotype-histology correlation is expected to improve patient care and enhance understanding for phenotypic variability. This meta-analysis studies the correlation of NCL genotypes with cli...

journal_title：Pediatric neurology

authors： Aungaroon G,Hallinan B,Jain P,Horn PS,Spaeth C,Arya R

更新日期：2016-07-01 00:00:00

abstract：:Despite significant improvement in mortality rate, survivors of neonatal bacterial meningitis experience a significant incidence of neurodevelopmental sequelae. Neuropathologic studies have demonstrated vasculitis, arachnoiditis, and ventriculitis with secondary edema and encephalomalacia. Areas of cerebral infarction...

journal_title：Pediatric neurology

authors： Ment LR,Ehrenkranz RA,Duncan CC

更新日期：1986-09-01 00:00:00

abstract：:Psychogenic seizures or psychogenic nonepileptic seizures occur in various mental disorders. Obsessive-compulsive symptoms can also imitate epileptic partial seizures, but detailed observations of this phenomenon are rare in the literature. A girl of 13 years was referred to the Department of Child Psychiatry because ...

journal_title：Pediatric neurology

authors： Wolańczyk T,Bryńska A

更新日期：1998-01-01 00:00:00

abstract：BACKGROUND:Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS:We d...

journal_title：Pediatric neurology

authors： Scalais E,Osterheld E,Weitzel C,De Meirleir L,Mataigne F,Martens G,Shaikh TH,Coughlin CR 2nd,Yu HC,Swanson M,Friederich MW,Scharer G,Helbling D,Wendt-Andrae J,Van Hove JLK

更新日期：2017-06-01 00:00:00

abstract：BACKGROUND:Rett syndrome is characterized by psychomotor regression during early childhood, autistic-like behaviors, and aberrant breathing patterns. Dysfunction of the serotonergic system has been postulated to play a role in the pathophysiology of these symptoms. PATIENT DESCRIPTION:We present an 11-year-old girl wi...

journal_title：Pediatric neurology

authors： Ohno K,Saito Y,Ueda R,Togawa M,Ohmae T,Matsuda E,Fujiyama M,Maegaki Y

更新日期：2016-07-01 00:00:00

abstract：:The aim of this study was to determine the incidence and describe the factors influencing ictal cardiac arrhythmias in children with epilepsy. A 2-year review within a pediatric epilepsy monitoring unit revealed 2066 electrographically confirmed seizures in 139 patients. Demographic, seizure, and cardiac variables wer...

journal_title：Pediatric neurology

authors： Standridge SM,Holland KD,Horn PS

更新日期：2010-03-01 00:00:00

abstract：:Childhood intracranial varix is rare and has been associated mostly with vein of Galen fistula or arteriovenous malformation. We present one patient with intracranial arteriovenous fistula with concomitant giant varix in a child. We treated the patient with endovascular embolization and obtained complete closure of fi...

journal_title：Pediatric neurology

authors： Hung PC,Wang HS

更新日期：2002-10-01 00:00:00

abstract：BACKGROUND:Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, ...

journal_title：Pediatric neurology

authors： Zhao B,Wei Q,Wang Y,Chen Y,Shang H

更新日期：2014-09-01 00:00:00

abstract：:A 4 1/2-year-old girl with acquired immunodeficiency syndrome and prolonged varicella zoster virus skin infection developed multiple ischemic strokes and radiologic and histopathologic evidence of central nervous system vasculitis. Typical features of acquired immunodeficiency syndrome encephalitis were not present an...

journal_title：Pediatric neurology

authors： Frank Y,Lim W,Kahn E,Farmer P,Gorey M,Pahwa S

更新日期：1989-01-01 00:00:00

abstract：:We investigated whether children presenting with a first seizure experienced anxiety and depressive signs. Children (aged 7-17 years) with a first unprovoked afebrile seizure participated. These patients (mean age, 12 +/- 2.7 years S.D.; 14 female/8 male) completed the Revised Child Manifest Anxiety Scale (n = 22) and...

journal_title：Pediatric neurology

authors： Loney JC,Wirrell EC,Sherman EM,Hamiwka LD

更新日期：2008-10-01 00:00:00

abstract：:An 8-year-old Japanese boy had Sakoda complex (basal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate) associated with bilateral anophthalmia, dysgenesis of the cerebral cortex, severe mental retardation, and intractable epilepsy as core symptoms and hemiparesis, microcephalus, short ...

journal_title：Pediatric neurology

authors： Ehara H,Kurimasa A,Ohno K,Takeshita K

更新日期：1998-05-01 00:00:00

abstract：:Although acute disseminated encephalomyelitis has been observed after a variety of viral infections and an occasional bacterial infection, it has not been reported in association with rickettsial infections. Reported is a 7-year-old male with magnetic resonance images and clinical manifestations suggestive of acute di...

journal_title：Pediatric neurology

authors： Wei TY,Baumann RJ

更新日期：1999-07-01 00:00:00

abstract：:Limited data are available on optic neuritis in Asian children. Clinical profiles tend to vary with different races. We aimed to determine the clinical manifestations, visual outcomes, and etiologies of optic neuritis in Malaysian children, and discuss the literature of optic neuritis in Asian children. A retrospectiv...

journal_title：Pediatric neurology

authors： Shatriah I,Adlina AR,Alshaarawi S,Wan-Hitam WH

更新日期：2012-05-01 00:00:00

abstract：:We studied the sensory evoked potentials in pediatric Wilson disease to verify their subclinical neurologic involvement and to elucidate the role of cirrhosis in abnormal evoked potentials in non-neurologic Wilson disease. Thirty children (17 male, 13 female), diagnosed with Wilson disease before 18 years, were enroll...

journal_title：Pediatric neurology

authors： Hsu YS,Chang YC,Lee WT,Ni YH,Hsu HY,Chang MH

更新日期：2003-07-01 00:00:00

abstract：:We report on a previously healthy 11-year-old boy with unilateral periorbital mild headache and facial nerve palsy, followed during the next 5 months by recurrent unilateral headaches and subsequent extrinsic paresis of the third cranial nerve and paresis of the sixth cranial nerve, each of which improved with steroid...

journal_title：Pediatric neurology

authors： Cerisola A,González G,Scavone C

更新日期：2011-01-01 00:00:00

abstract：:The nicotinic acetylcholine receptors are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies. A major challenge is t...

journal_title：Pediatric neurology

authors： Peng CT,Chou IC,Li CI,Hsu YA,Tsai CH,Tsai FJ

更新日期：2004-03-01 00:00:00

abstract：:A 16-month-old girl with a history of Prader-Willi syndrome and progressive macrocephaly manifested large, bilateral, subdural hemorrhages of differing ages on magnetic resonance imaging. Subsequent evaluation revealed a deficiency of von Willebrand factor, but after repeated evaluations, no conclusive evidence of non...

journal_title：Pediatric neurology

authors： Carr RB,Khanna PC,Saneto RP

更新日期：2012-07-01 00:00:00

abstract：:This report describes a female with eyelid fluttering with absence seizures, infrequent generalized tonic-clonic seizures, and mild mental retardation. Interictal and video-electroencephalography evaluations revealed normal activity while eyes were open but continuous generalized discharges with eyes closed (eyes clos...

journal_title：Pediatric neurology

authors： Senbil N,Soyer O,Turanlý G,Gürer YK

更新日期：2006-11-01 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

authors： Joshi CN,Booth FA,Sigurdson ES,Bolton JM,Shah NS

更新日期：2006-05-01 00:00:00

abstract：:The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (ne...

journal_title：Pediatric neurology

authors： Swaiman KF

更新日期：2001-08-01 00:00:00

abstract：:A patient with angiodysgenetic necrotizing encephalopathy or diffuse meningocerebral angiomatosis complicated by intraventricular hemorrhage, posthemorrhagic hydrocephalus, and signs of heart failure is reported. The hydrocephalus and cardiomegaly were diagnosed by fetal ultrasonography. Based on these pathologic find...

journal_title：Pediatric neurology

authors： Arvanitis DL,Apostolidou IA,Routsis PV,Biskini EI,Kalpoyannis NS

更新日期：1996-02-01 00:00:00

abstract：:A 5-year-old girl with hemolytic uremic syndrome is reported with pituitary hemorrhage in the acute phase. Seizures, hemiplegia, and transient blindness were observed. These symptoms cannot be attributed to the pituitary hemorrhage; however, pituitary hemorrhage should be added to the list of neurologic lesions that c...

journal_title：Pediatric neurology

authors： Nagai T,Hasegawa O,Tuji A,Kamiyama Y,Honda M,Ito H

更新日期：1992-01-01 00:00:00

abstract：:Two siblings, a 27-year-old man and his 24-year-old sister were diagnosed with classic transferase deficiency galactosemia at birth and were treated with strict lactose restriction. Despite well-documented dietary management, both siblings are mentally retarded and manifest a progressive neurologic condition character...

journal_title：Pediatric neurology

authors： Koch TK,Schmidt KA,Wagstaff JE,Ng WG,Packman S

更新日期：1992-05-01 00:00:00