Abstract：
:This report presents a new mutation in the first Japanese female infant with spinal muscular atrophy with respiratory distress type 1. She manifested the characteristic clinical features, including early-onset respiratory failure due to diaphragmatic paralysis and severe distal muscle weakness. Muscle biopsy in the femoral muscle indicated massive neurogenic changes. Sural nerve biopsy disclosed a moderate reduction of myelinated fibers, predominantly reduced large fibers. She had a novel homozygous missense mutation 2685 C -->A, leading to a T879K substitution in the immunoglobulin mu-binding protein 2 gene. Both parents were heterozygous for this mutation.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Tachi N,Kikuchi S,Kozuka N,Nogami Adoi
10.1016/j.pediatrneurol.2004.11.003subject
Has Abstractpub_date
2005-04-01 00:00:00pages
288-90issue
4eissn
0887-8994issn
1873-5150pii
S0887-8994(04)00556-9journal_volume
32pub_type
杂志文章abstract：:A 13-year-old female is described with presumed viral encephalitis, who developed progressive catatonia, agitation, and autonomic dysfunction. The diagnosis of malignant catatonia was made, and the patient improved with electroconvulsive treatment. This article discusses features, causes, differential diagnosis, and t...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.10.004
更新日期：2005-03-01 00:00:00
abstract：:The pediatric neurologist can fulfill a useful role as a subspecialty consultant concerning the fetus with a suspected brain disorder, given that neurologic disease may occur before the intrapartum period. Brain disorders detected in the neonatal period may also reflect fetal brain damage before dysfunction is first d...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(03)00234-0
更新日期：2003-09-01 00:00:00
abstract：BACKGROUND:Prevalence and contribution of intracranial and extracranial arterial stenosis to stroke risk were assessed prospectively in children and young adults with sickle cell disease. METHODS:In this cross-sectional study, children and young adults (mean = 19.4 years) with sickle cell disease underwent neurologica...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.10.006
更新日期：2021-01-01 00:00:00
abstract：:Mean rectal temperatures in neonates were investigated during sleep state transitions as assessed by visually analyzed electroencephalographic-polygraphic recordings. Continuous 3-hour studies were obtained on 3 term and 5 preterm infants at postconceptional term ages using a 24-channel computerized monitoring system....
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90022-1
更新日期：1994-05-01 00:00:00
abstract：:Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we reviewed all published c...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2003.10.012
更新日期：2004-04-01 00:00:00
abstract：:A 16-year-old boy had a gradual onset of post-exercise myalgia with progressive fatigue and dizziness. He had bradycardia (37 beats/minute) with low supine and normal standing norepinephrine levels (56 and 311 pg/mL, respectively). He had absent sympathetically mediated vasoconstrictor responses during Valsalva maneuv...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.05.003
更新日期：2010-10-01 00:00:00
abstract：:Searching for a tool to quantify motor impairment in spina bifida, transcranial and lumbar magnetic stimulation were applied in affected newborn infants. Lumbar magnetic stimulation resulted in motor evoked potentials in both the quadriceps muscle and the tibialis anterior muscle in most (11/13) subjects. However, tra...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.06.016
更新日期：2006-02-01 00:00:00
abstract：:Twelve patients with hereditary motor and sensory neuropathy with the absence of large myelinated fibers have been reported. All of these patients had central nervous system involvement. In this report, we describe the first patient with pure motor and sensory neuropathy with the absence of large myelinated fibers wit...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00192-2
更新日期：2000-10-01 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：:We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(02)00456-3
更新日期：2002-11-01 00:00:00
abstract：:Potassium channel subunits encoded by several genes of the KCNQ family underlie the M-current. Specifically, KCNQ2 and KCNQ3 play a major role at most neuronal sites. Mutations in KCNQ2 or KCNQ3 that reduce the M-current are responsible for benign familial neonatal seizures, a rare autosomal dominant idiopathic epilep...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.05.009
更新日期：2009-11-01 00:00:00
abstract：:Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, failure to thrive, and psychomotor retardation. This report describes a newborn with a severe phenotype whose ne...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.07.006
更新日期：2007-11-01 00:00:00
abstract：:The third case of cyclic vomiting syndrome with a large mitochondrial deoxyribonucleic acid rearrangement is described. Multiple neuromuscular anomalies are present that meet the diagnostic criteria for Kearns-Sayre syndrome, as well as severe symmetrical growth retardation. A 3-kilobase mitochondrial deoxyribonucleic...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.09.008
更新日期：2007-02-01 00:00:00
abstract：:Positron emission tomography (PET) using 18F-labeled 2-deoxy-D-glucose was performed serially in 5 infants with idiopathic West syndrome. While tonic spasms persisted, 2 infants had hypometabolism in the bilateral temporo-parieto-occipital regions, which disappeared after cessation of spasms. In 2 other infants, PET r...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(93)90021-4
更新日期：1993-11-01 00:00:00
abstract：:Type I spinal muscular atrophy (SMA) is a rapidly progressive, degenerative neuromuscular disease of infancy. In severe SMA, weakness, hypotonia, and bulbar involvement lead to progressive respiratory insufficiency and swallowing dysfunction, which are frequently complicated by aspirations. There are few studies repor...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00227-0
更新日期：1998-05-01 00:00:00
abstract：:G(M2)-gangliosidosis is a neurodegenerative lysosomal disease with several clinical variants. We describe a 2-year-old black child with juvenile-onset disease, who presented with abnormal eye movements and cherry-red spots of the maculae. Mutation analysis of the HEXA gene revealed the patient to be a compound heteroz...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.12.004
更新日期：2008-04-01 00:00:00
abstract：:Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neu...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2012.11.001
更新日期：2013-05-01 00:00:00
abstract：:A 4-year-old female with choroid plexus carcinoma developed progressive disturbance of consciousness 2 years after postoperative treatment with radiotherapy, chemotherapy, and focal methotrexate injection into a residual tumor cyst. Magnetic resonance imaging revealed white matter lesions localized around the expandin...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.06.018
更新日期：2005-01-01 00:00:00
abstract：BACKGROUND:Seizures may cause added harm in neonates with hypoxic-ischemic encephalopathy (HIE). Specific recommendations about seizure treatment in this context are lacking. We sought to determine the scope of practice regarding management of non-status epilepticus electrographic-only seizures in this setting. METHOD...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.06.006
更新日期：2017-12-01 00:00:00
abstract：:Hashimoto encephalopathy is a rare, clinically heterogenous condition. Its treatment is based on corticosteroids. A previously normal 12-year-old boy was admitted to our pediatric emergency department with status epilepticus. He experienced a recurrence of status epilepticus after pentobarbital withdrawal, and require...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.11.009
更新日期：2012-02-01 00:00:00
abstract：:We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. Magnetic resonance imaging (MRI) of the brain demonstrated bilateral lesions in the lenticular and caudate nuclei, periaqued...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00048-9
更新日期：1997-09-01 00:00:00
abstract：:Clinical and laboratory findings of 25 patients with classical Cockayne syndrome (CS) are reviewed. A history of consanguinity was present in 21 patients, and 15 patients had at least 1 affected sibling. Apart from the cardinal features of dwarfism, microcephaly, and mental retardation, the most consistent clinical fe...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(96)00229-9
更新日期：1996-11-01 00:00:00
abstract：:Three children ranging in age from 2 to 5 years with acute disseminated encephalomyelitis (ADEM) were successfully treated with high-dose intravenous immunoglobulin (IVIG). Their symptoms were somnolence, fever, headache, vomiting, and resting tremor. In all of these patients, it was difficult to distinguish the condi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00042-9
更新日期：1999-08-01 00:00:00
abstract：:A male adolescent developed a sinovenous thrombosis 4 weeks following a Henoch-Schonlein purpura episode. A hypercoagulation evaluation revealed a positive lupus anticoagulant. This suggests an association between Henoch-Schonlein purpura and antiphospholipid antibody syndrome and is the first report of sinovenous thr...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.01.005
更新日期：2007-05-01 00:00:00
abstract：:Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.10.003
更新日期：2007-02-01 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：:This report describes two patients, a father and son, with autosomal dominant Emery-Dreifuss muscular dystrophy. Although the father had the common phenotype, the son had a severe phenotype including early onset of weakness and fatal cardiomyopathy in childhood. Among the patients with severe phenotype of autosomal do...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.12.011
更新日期：2005-05-01 00:00:00
abstract：:The clinical course and autopsy findings of 2 patients with measles encephalitis that occurred during the 1988-1989 Houston epidemic are reported. A previously healthy 25-month-old boy had serologically-proved measles, hemophagocytic syndrome, and acute disseminated demyelinating encephalitis. A 19-year-old male with ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(90)90046-4
更新日期：1990-03-01 00:00:00
abstract：:To clarify reflex profiles in the first year of life in connection with categories of neurologic abnormality, eight primitive reflexes (i.e., the palmar grasp reflex, the plantar grasp reflex, the Galant response, the asymmetric tonic neck reflex, the suprapubic extensor reflex, the crossed extensor reflex, the Rossol...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00143-4
更新日期：1995-09-01 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
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.05.010
更新日期：2006-11-01 00:00:00
