Brain diffusivity in infants with hypoxic-ischemic encephalopathy following whole body hypothermia: preliminary results.

abstract：:We present a case of a 1-year-old female child who was referred to the Early Intervention Clinic for evaluation of developmental delay and progressively enlarging head size. Developmental assessment revealed significant motor delay with borderline cognitive impairment. MRI of the brain revealed generalized ventriculom...

journal_title：Journal of child neurology

authors： Rai B,Sharif F

更新日期：2015-03-01 00:00:00

abstract：:We report a case of a neonate with sectional narrowing of the spinal cord on the level of T12 to L2 and a deformed vertebral body on a different level, L4. In previously described cases of sectional spinal dysgenesis, the vertebral and spinal cord malformations are usually found on the same level. Our case may represe...

journal_title：Journal of child neurology

authors： Weber A,Maier RF,Felderhoff-Mueser U,Lehmann R,Stöver B,Obladen M

更新日期：2001-08-01 00:00:00

abstract：:Erythromelalgia is a rare condition characterized by episodic painful erythema and warmth often affecting, but not limited to, the distal extremities. This condition is notoriously difficult to treat. We report a young female patient with seronegative polyarthritis who presented with a 6-year history of recurrent bout...

journal_title：Journal of child neurology

authors： Moody S,Pacheco S,Butler IJ,Koenig MK

更新日期：2012-07-01 00:00:00

abstract：:Electrographic seizures are common in neonates with hypoxic-ischemic encephalopathy, but detailed data are not available regarding seizure incidence during therapeutic hypothermia. The objective of this prospective study was to determine the incidence and timing of electrographic seizures in term neonates undergoing w...

journal_title：Journal of child neurology

authors： Wusthoff CJ,Dlugos DJ,Gutierrez-Colina A,Wang A,Cook N,Donnelly M,Clancy R,Abend NS

更新日期：2011-06-01 00:00:00

abstract：:Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a 6-year-old girl with newly diagnosed ornithine transcarbamylase deficiency who presents with an episode of acute cortical blindness lasting for 72 hours in the absence...

journal_title：Journal of child neurology

authors： Prasun P,Altinok D,Misra VK

更新日期：2015-05-01 00:00:00

abstract：AIMS:To conduct a review of the literature on the use of botulinum toxin for the treatment of pediatric chronic migraine. METHODS:A review of the literature was performed using EMBASE, PubMed, and Cochrane/Ovid. Using our inclusion and exclusion criteria, we targeted any study, published before April 2020, evaluating ...

journal_title：Journal of child neurology

authors： Marcelo R,Freund B

更新日期：2020-10-01 00:00:00

abstract：:Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...

journal_title：Journal of child neurology

authors： Butrum MW,Williams LS,Golomb MR

更新日期：2003-11-01 00:00:00

abstract：:The objective of this study was to determine the role of cerebral nitric oxide and its powerful oxidant peroxynitrite following mild birth asphyxia. The cerebrospinal fluid levels of nitric oxide and 3-nitrotyrosine as a marker for peroxynitrite are measured in neonates with mild hypoxic-ischemic encephalopathy. Based...

journal_title：Journal of child neurology

authors： Gücüyener K,Ergenekon E,Demiryürek T,Erbaş D,Oztürk G,Koç E,Atalay Y

更新日期：2002-11-01 00:00:00

abstract：:An epileptic syndrome of benign nocturnal childhood occipital epilepsy with excellent prognosis is described. The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. There may be marching to involve the head and limbs, ending with a generalized tonic-cl...

journal_title：Journal of child neurology

authors： Panayiotopoulos CP

更新日期：1989-01-01 00:00:00

abstract：:In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disea...

journal_title：Journal of child neurology

authors： Yoon G,Soman T,Wilson J,George K,Mital S,Dipchand AI,McCabe J,Logan W,Kantor P

更新日期：2012-09-01 00:00:00

abstract：:Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The au...

journal_title：Journal of child neurology

authors： Davis K,Holden KR,S'Aulis D,Amador C,Matheus MG,Rizzo WB

更新日期：2013-10-01 00:00:00

abstract：BACKGROUND:The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline. Atypical phenotypes exhibit variable time of onset, symptomatology, ...

journal_title：Journal of child neurology

authors： Wibbeler E,Wang R,Reyes EL,Specchio N,Gissen P,Guelbert N,Nickel M,Schwering C,Lehwald L,Trivisano M,Lee L,Amato G,Cohen-Pfeffer J,Shediac R,Leal-Pardinas F,Schulz A

更新日期：2020-12-23 00:00:00

abstract：:The etiology of mild mental retardation remains undefined in about 60% of cases. Even though the causes of mild mental retardation are likely to be heterogeneous, the evidence for genetic involvement is increasing, along with the development of specific diagnostic techniques. To improve our understanding of the geneti...

journal_title：Journal of child neurology

authors： Saccucci P,Arpino C,Rizzo R,Gagliano A,Volzone A,Lalli C,Galasso C,Curatolo P

更新日期：2006-09-01 00:00:00

abstract：:Fifty-three (5%) of 1064 consecutively imaged children showed an arterial vascular pattern on magnetic resonance images, accounting for 12% of all abnormal studies. Signal abnormalities on T2-weighted scans persisted years after the clinical stroke occurrence. Ipsilateral atrophy of the pons or midbrain was found in 2...

journal_title：Journal of child neurology

authors： Smith CD,Baumann RJ

更新日期：1991-07-01 00:00:00

abstract：:The combination of pontocerebellar hypoplasia and anterior horn cell degeneration is classified as pontocerebellar hypoplasia type 1. Although most cases exhibit severe muscle weakness and hypotonia neonatally with short life spans, some cases exhibit a later onset with a longer life span and show cerebellar atrophy w...

journal_title：Journal of child neurology

authors： Sanefuji M,Kira R,Matsumoto K,Gondo K,Torisu H,Kawakami H,Iwaki T,Hara T

更新日期：2010-11-01 00:00:00

abstract：:High-dose phenobarbital therapy is an effective treatment for refractory status epilepticus in children. The advantages of this therapy include milder adverse effects without limits for maximal phenobarbital levels or doses during the initial phase of treatment. However, little is known about the safety of continuing ...

journal_title：Journal of child neurology

authors： Wakamoto H,Nakamura Y,Ebihara T,Tokuda K,Ohmori H

更新日期：2009-12-01 00:00:00

abstract：:Patients with refractory seizures, including those with Sturge-Weber syndrome, undergo functional studies in preparation for surgery. Perfusion studies in Sturge-Weber syndrome by single photon emission computed tomography and positron emission tomography generally demonstrate hypoperfusion in the diseased tissue. We ...

journal_title：Journal of child neurology

authors： Oguz KK,Senturk S,Ozturk A,Anlar B,Topcu M,Cila A

更新日期：2007-05-01 00:00:00

abstract：:The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment (ceroid lipofuscin). Together, they represent the most prevalent class of childhood neurodegenerative disease. The neuronal ceroid lipofuscinoses encomp...

journal_title：Journal of child neurology

authors： Mink JW,Augustine EF,Adams HR,Marshall FJ,Kwon JM

更新日期：2013-09-01 00:00:00

abstract：:Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently described biochemical and molecular pathology improved the diagnosti...

journal_title：Journal of child neurology

authors： Kaczorowska M,Kmiec T,Jakobs C,Kacinski M,Kroczka S,Salomons GS,Struys EA,Jozwiak S

更新日期：2008-12-01 00:00:00

abstract：:Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dyspl...

journal_title：Journal of child neurology

authors： Picker-Minh S,Hartenstein S,Proquitté H,Fröhler S,Raile V,Kraemer N,Apeshiotis S,Leipoldt M,Kalache KD,Morris-Rosendahl D,Boltshauser E,Chen W,Kaindl AM

更新日期：2017-03-01 00:00:00

abstract：:This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum diso...

journal_title：Journal of child neurology

authors： Jain R,Juneja M,Sairam S

更新日期：2013-04-01 00:00:00

abstract：:Two children with neurofibromatosis and a chief complaint of severe, episodic, unilateral facial itching were found to have brainstem glioma. Initial computerized tomography of the brain was thought to be normal, but the brainstem tumor was subsequently demonstrated on magnetic resonance imaging. The paroxysmal facial...

journal_title：Journal of child neurology

authors： Summers CG,MacDonald JT

更新日期：1988-07-01 00:00:00

abstract：:This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...

journal_title：Journal of child neurology

authors： MacLennan SC,Wade FM,Forrest KM,Ratanayake PD,Fagan E,Antony J

更新日期：2008-11-01 00:00:00

abstract：:The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse cortical hypometabo...

journal_title：Journal of child neurology

authors： Shandal V,Veenstra AL,Behen M,Sundaram S,Chugani H

更新日期：2012-01-01 00:00:00

abstract：:A variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders. We describe two sisters affected by mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome in whom DNA anal...

journal_title：Journal of child neurology

authors： Balestri P,Grosso S

更新日期：2000-11-01 00:00:00

abstract：:Klonopin (clonazepam; Genentech Inc, South San Francisco, California) oral wafers are benzodiazepines with anticonvulsive and anxiolytic properties. Our institution has been prescribing clonazepam wafers for acute treatment of prolonged seizures for years. Patients' size determined dosing at 0.25, 0.5, 1, or 2 mg wafe...

journal_title：Journal of child neurology

authors： Troester MM,Hastriter EV,Ng YT

更新日期：2010-12-01 00:00:00

abstract：:The sphenoid sinus is often referred to as the "neglected sinus." Isolated sphenoid sinusitis is a rare disease with potentially devastating complications. It occurs at an incidence of about 2.7% of all sinus infections. Although headache is the most common presenting symptom, there is no typical headache pattern. Thr...

journal_title：Journal of child neurology

authors： Ng YT,Butler IJ

更新日期：2001-12-01 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：:After an initial patient with cerebral palsy had an apparent dramatic reduction in spasticity when placed on modafinil, a pilot study was undertaken in 10 pediatric patients to confirm or refute the benefit of modafinil in cerebral palsy. Nine of 10 patients completed the 1-month treatment period. The study patients w...

journal_title：Journal of child neurology

authors： Hurst DL,Lajara-Nanson W

更新日期：2002-03-01 00:00:00

abstract：:Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional...

journal_title：Journal of child neurology

authors： Lunardini F,Bertucco M,Casellato C,Bhanpuri N,Pedrocchi A,Sanger TD

更新日期：2015-10-01 00:00:00