Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.

abstract：:Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is characterized by acute- or subacute-onset encephalopathy with extrapyramidal, psychiatric, and epileptic manifestations. Diagnosis is confirmed by positive antibodies to NMDA receptor in cerebrospinal fluid and serum. Eleven pediatric cases presented over a 2-y...

journal_title：Journal of child neurology

authors： Chakrabarty B,Tripathi M,Gulati S,Yoganathan S,Pandit AK,Sinha A,Rathi BS

更新日期：2014-11-01 00:00:00

abstract：:Concussion is a known risk in youth soccer, but little is known about subconcussive head impacts. The authors provided a prospective cohort study measuring frequency and magnitude of subconcussive head impacts using accelerometry in a middle school-age soccer tournament, and association between head impacts and change...

journal_title：Journal of child neurology

authors： Chrisman SP,Mac Donald CL,Friedman S,Andre J,Rowhani-Rahbar A,Drescher S,Stein E,Holm M,Evans N,Poliakov AV,Ching RP,Schwien CC,Vavilala MS,Rivara FP

更新日期：2016-07-01 00:00:00

abstract：:The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...

journal_title：Journal of child neurology

authors： Matthews DJ,James KA,Miller LA,Pandya S,Campbell KA,Ciafaloni E,Mathews KD,Miller TM,Cunniff C,Meaney FJ,Druschel CM,Romitti PA,Fox DJ,MD STARnet.

更新日期：2010-11-01 00:00:00

abstract：:A child suffered from herpes simplex virus encephalitis at the age of 6 months; a late relapse occurred 8.5 years after the initial episode, the longest latency period reported. Radiologic and autopsy findings suggest local reactivation of latent herpes simplex virus as the cause of relapse. All cases of late relapse ...

journal_title：Journal of child neurology

authors： Spiegel R,Miron D,Yodko H,Lumelsky D,Habib A,Horovitz Y

更新日期：2008-03-01 00:00:00

abstract：:The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 ch...

journal_title：Journal of child neurology

authors： Molinero MR,Varon D,Holden KR,Sladky JT,Molina IB,Cleaves F

更新日期：2003-11-01 00:00:00

abstract：:The authors reviewed the medical records of very low-birth-weight infants admitted from 1998 to 2007 and compared neurodevelopmental outcomes with their previously reported data from 1989 to 1997. The recent group included 824 infants, and the previous group included 471 infants. Neurodevelopmental outcomes were class...

journal_title：Journal of child neurology

authors： Jang DH,Sung IY,Jeon JY,Moon HJ,Kim KS,Kim EA,Lee BS

更新日期：2011-11-01 00:00:00

abstract：:Cavernous haemangiomas, or cavernous malformations, have been reported during pregnancy, most of which have been either supratentorial or spinal lesions. We encountered a 15-year old pregnant patient with a rapidly progressive and haemorrhagic brainstem cavernous haemangioma. The case presented here describes the hist...

journal_title：Journal of child neurology

authors： Ranger AM,Chaudhary N,Avery M,Lownie S

更新日期：2013-10-01 00:00:00

abstract：:Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interestin...

journal_title：Journal of child neurology

authors： Yaris N,Aynaci FM,Kalyoncu M,Odemiş E,Okten A

更新日期：2004-01-01 00:00:00

abstract：:The aim of this study was to clarify the relationship between neurologic findings and outcome of patients with West syndrome, focusing on the popliteal angle. The complete neurologic examination, including an assessment of the popliteal angle and muscle tone, was performed on 45 patients with West syndrome. A tight po...

journal_title：Journal of child neurology

authors： Okumura A,Kato T,Sei Y,Suzuki T,Morishita Y,Watanabe K

更新日期：2006-10-01 00:00:00

abstract：:Phantosmia is an infrequently reported and poorly understood qualitative olfactory disorder characterized by the perception of a frequently unpleasant odor in the absence of an odorant stimulus. Peripheral phantosmia is hypothesized to involve abnormally active olfactory receptor neurons while central phantosmia is th...

journal_title：Journal of child neurology

authors： Yang JC,Khakoo Y,Lightner DD,Wolden SL

更新日期：2013-06-01 00:00:00

abstract：:Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced ...

journal_title：Journal of child neurology

authors： Edwards BO Jr,Fischer AQ,Flannery DB

更新日期：1988-10-01 00:00:00

abstract：:The past 10 years' experience with bone marrow transplantation from normal, immunologically compatible donors indicates its possible use in various neurometabolic diseases, particularly in a patient who has not suffered irreparable brain damage. This experience may be a prelude to treatment by somatic gene therapy. Th...

journal_title：Journal of child neurology

authors： Ozand PT,Gascon GG

更新日期：1992-04-01 00:00:00

abstract：:Childhood disintegrative disorder, a rare, relentlessly progressive neurologic disorder, first described by Heller in 1908, remains a condition of great interest. It has long been debated whether it is a discrete disorder or simply a late-onset variant of childhood autism. We have studied 6 cases of childhood disinteg...

journal_title：Journal of child neurology

authors： Rosman NP,Bergia BM

更新日期：2013-12-01 00:00:00

abstract：:MECP2 duplication syndrome is an X-linked genomic disorder that is characterized by infantile hypotonia, intellectual disability, and recurrent respiratory infections. Regression affects a subset of individuals, and the etiology of regression has yet to be examined. In this study, alterations in the hypothalamus-pitui...

journal_title：Journal of child neurology

authors： Peters SU,Byiers BJ,Symons FJ

更新日期：2016-02-01 00:00:00

abstract：:Acute disseminated encephalomyelitis is a monophasic inflammatory demyelinating disease of the central nervous system involving the white matter, and to a lesser extent, the gray matter. Bilateral thalamic lesions have been reported in 12% of pediatric patients with acute disseminated encephalomyelitis. In most cases,...

journal_title：Journal of child neurology

authors： Dardiotis E,Kountra P,Kapsalaki E,Protogerou G,Markopoulou K

更新日期：2009-08-01 00:00:00

abstract：:Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneoplastic cerebellar degeneration; atypical...

journal_title：Journal of child neurology

authors： Helton K,Patterson AL,Khan RB,Sadighi ZS

更新日期：2017-08-01 00:00:00

abstract：:We evaluated the neuropsychological and neurologic outcome of 15 long-term survivors of posterior fossa tumors who were treated between 1970 and 1984 with cranial irradiation (n = 15) and surgery (n = 14). The interval between diagnosis and evaluation ranged from 4 to 20 years (median = 10 years). Earlier age at diagn...

journal_title：Journal of child neurology

authors： Chapman CA,Waber DP,Bernstein JH,Pomeroy SL,LaVally B,Sallan SE,Tarbell N

更新日期：1995-05-01 00:00:00

abstract：:An 8-year-old girl and her 4-year-old sister presented with psychomotor retardation during the 1st year of life. This was followed by spasticity, seizures, and in the older patient, progressive loss of faculties and death. Computed tomographic and magnetic resonance imaging scans demonstrated progressive cerebral atro...

journal_title：Journal of child neurology

authors： de León GA,Crawford SE,Stack C,Darling CF,Johnson GS

更新日期：1996-01-01 00:00:00

abstract：:Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detec...

journal_title：Journal of child neurology

authors： Mazzei R,Conforti FL,Muglia M,Sprovieri T,Patitucci A,Magariello A,Gabriele AL,Quattrone A

更新日期：2003-04-01 00:00:00

abstract：:Managing severe epilepsy syndromes of early childhood is challenging as the seizures are typically resistant to treatment and may cause disabling mental and behavioral problems in later life. A comprehensive treatment plan includes pharmacologic, nonpharmacologic, and surgical options. This article reviews clinical st...

journal_title：Journal of child neurology

authors： Wheless JW

更新日期：2009-08-01 00:00:00

abstract：:Seizures occur more frequently early in life. Some of these early seizures may eventually become epilepsy. Others are reactive seizures due to excessive environmental stimuli that, in any other age group, might not have elicited a similar response. To understand the developmental aspects of seizures and epilepsy in hu...

journal_title：Journal of child neurology

authors： Kubová H,Moshé SL

更新日期：1994-10-01 00:00:00

abstract：:Lissencephaly is a brain malformation manifested by a smooth cerebral surface and caused by incomplete neuronal migration. Clinical sequellae include minor craniofacial changes (bitemporal hollowing, small jaw), severe mental retardation, and other neurological abnormalities. Patients with classical or type I lissence...

journal_title：Journal of child neurology

authors： Pavone L,Gullotta F,Incorpora G,Grasso S,Dobyns WB

更新日期：1990-01-01 00:00:00

abstract：:Transient neonatal myasthenia gravis is a postsynaptic neuromuscular transmission defect occurring in 21% of infants born to women with active (and, less commonly, in remission) acquired myasthenia gravis. Although passive-transfer acetylcholine receptor (AChR) antibodies are found in the majority of these newborns, t...

journal_title：Journal of child neurology

authors： Papazian O

更新日期：1992-04-01 00:00:00

abstract：:Growth failure is nearly universal in spinal muscular atrophy type 1 and common in type 2, although acuity is often underappreciated at initial diagnosis. We reviewed 44 consecutive spinal muscular atrophy patients (28 type 1, 16 type 2) under 3 years at initial presentation. Growth failure was conventionally defined:...

journal_title：Journal of child neurology

authors： Sproule DM,Hasnain R,Koenigsberger D,Montgomery M,De Vivo DC,Kaufmann P

更新日期：2012-07-01 00:00:00

abstract：:Primary spinal atypical teratoid/rhabdoid tumor is extremely rare. The authors present a case of atypical teratoid/rhabdoid tumor occurring in a 4-year-old girl. Magnetic resonance imaging The authors showed an intramedullary mass extending from the bulbomedullary junction to T1 with leptomeningeal dissemination. The ...

journal_title：Journal of child neurology

authors： Tinsa F,Jallouli M,Douira W,Boubaker A,Kchir N,Hassine DB,Boussetta K,Bousnina S

更新日期：2008-12-01 00:00:00

abstract：:Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also docume...

journal_title：Journal of child neurology

authors： Sarnat HB,Flores-Sarnat L,Wei XC

更新日期：2017-05-01 00:00:00

abstract：:The standard physical examination evaluation for a proprioception abnormality depends upon the patient's ability to follow directions and respond to the examiner, a skill not yet developed in toddlers. This study demonstrates a new proprioception examination method that may allow for better localization of lesions and...

journal_title：Journal of child neurology

authors： Gray EM,Tomlison KG,Kileny S,Leber SM

更新日期：2019-03-01 00:00:00

abstract：:Apneic neonatal seizures can present as apparent life-threatening events. We report a newborn with unexplained episodes of apnea associated with cyanosis and desaturation, starting on the first day postpartum. Biochemical tests were normal. Central nervous system infections as well as abnormalities of upper airways an...

journal_title：Journal of child neurology

authors： Khajeh L,Cherian PJ,Swarte RM,Smit LS,Lequin MH

更新日期：2014-07-01 00:00:00

abstract：:Intravenous immunoglobulin has been reported to be an effective treatment for infantile spasms. Juvenile spasms are electrically and clinically similar to infantile spasms but occur in a later age group. We retrospectively reviewed the charts of five children (aged 4.5-11.5 years) at our institution. Their primary sei...

journal_title：Journal of child neurology

authors： Bingel U,Pinter JD,Sotero de Menezes M,Rho JM

更新日期：2003-06-01 00:00:00

abstract：:Genetic factors play an important role in childhood autism. This study is to determine the association of single-nucleotide polymorphisms in dopa decarboxylase (DDC) and dopamine receptor-1 (DRD1) genes with childhood autism, in a Chinese Han population. A total of 211 autistic children and 250 age- and gender-matched...

journal_title：Journal of child neurology

authors： Yu H,Liu J,Yang A,Yang G,Yang W,Lei H,Quan J,Zhang Z

更新日期：2016-04-01 00:00:00