What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.

abstract：:Chromosome X-to-autosome translocations [t(X;A)] are rare rearrangements with an estimated occurrence of 1 to 3 per 10,000 live births. Occurrences of Xq duplications have been observed in male and female subjects in whom the X chromosome segment escapes inactivation and results in functional disomy. We report a case ...

journal_title：Pediatric neurology

authors： Jezela-Stanek A,Ciara E,Juszczak M,Pelc M,Materna-Kiryluk A,Krajewska-Walasek M

更新日期：2011-03-01 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：:Two visually impaired children with occipital infarctions are presented. One patient has profound impairment of his primary visual pathway but has good vision for traveling, while the other child presented with the symptoms in reverse. We believe that these two patients provide further evidence that the primary visual...

journal_title：Pediatric neurology

authors： Jan JE,Wong PK,Groenveld M,Flodmark O,Hoyt CS

更新日期：1986-11-01 00:00:00

abstract：:We report a patient with BH(4)-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were detected. In the tetrahydrobiopterin- (BH(4)) loading test, phenylalanine concentrations in serum fell significantly. Dihydropteridine reductase activity in blood, pterines, and neurotransmitters i...

journal_title：Pediatric neurology

authors： Lücke T,Illsinger S,Aulehla-Scholz C,Sander J,Das AM

更新日期：2003-03-01 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

authors： Maeda N,Watanabe K,Negoro T,Aso K,Haga Y,Kito M,Ohki T,Ito K,Kato T

更新日期：1993-11-01 00:00:00

abstract：:Although valproic acid (VPA) is used to treat infantile spasms, VPA's efficacy in infantile spasms has not been determined in a controlled study. This study evaluated the effect of VPA on infantile spasms in patients who had not responded to adrenocorticotropin (ACTH) and corticosteroid therapy. The hypotheses were te...

journal_title：Pediatric neurology

authors： Dyken PR,DuRant RH,Minden DB,King DW

更新日期：1985-01-01 00:00:00

abstract：:We report a previously undescribed electroencephalographic pattern of epochs of diffuse delta background (85-240 sec) alternating with epochs of classic "burst suppression" (90-270 sec) in a 13-month-old girl with hemolytic-uremic syndrome. A dramatic electroencephalographic improvement was evident on continuous monit...

journal_title：Pediatric neurology

authors： Pascual-Leone A,Dhuna AK,Janousek ST,Talwar D

更新日期：1990-07-01 00:00:00

abstract：:The etiology of Behr syndrome remains uncertain. A 6-year-old girl with a progressive syndrome of optic atrophy, ataxia, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of Behr syndrome is described. Diffuse, symmetric white matter abnormalities were demonstrated by magnetic reson...

journal_title：Pediatric neurology

authors： Marzan KA,Barron TF

更新日期：1994-05-01 00:00:00

abstract：:We investigate the incidence of torticollis associated with neonatal brachial plexus palsy, whether the severity of brachial plexus palsy affects outcomes and the rate of recovery. We performed a retrospective review of 128 consecutive neonatal brachial plexus palsy patients evaluated at the University of Michigan fro...

journal_title：Pediatric neurology

authors： Hervey-Jumper SL,Justice D,Vanaman MM,Nelson VS,Yang LJ

更新日期：2011-11-01 00:00:00

abstract：:Headache hygiene refers to self-management behaviors and practices aimed at reducing headache-related disability and improving self-efficacy. Although self-management interventions have an established place in the management of a wide range of chronic conditions, there is still not a standardized approach to this in p...

journal_title：Pediatric neurology

authors： Barmherzig R,Lagman-Bartolome AM,Marlowe S,Kohut SA,Gunn G,Olivieri H,Mulligan J,Grundy-Bozinis K,Gladstone J,Lay C,MacGregor D

更新日期：2020-02-01 00:00:00

abstract：:The effects of vagal nerve stimulation on sleep-related breathing have not been well-described in children. Vagal nerve stimulation was reported to cause decreases in airflow during sleep, although most studies reported this condition to be clinically insignificant. We present a retrospective case series of nine child...

journal_title：Pediatric neurology

authors： Hsieh T,Chen M,McAfee A,Kifle Y

更新日期：2008-02-01 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

authors： Dufresne D,Dagenais L,Shevell MI,REPACQ Consortium.

更新日期：2014-11-01 00:00:00

abstract：:The patient is a 10-year-old male who experienced somnolence and incomplete quadriplegia after headache and vomiting, without exanthema, for 3 days. The clinical course and magnetic resonance imaging findings of the brain and spinal cord were compatible with acute disseminated encephalomyelitis. The serologic examinat...

journal_title：Pediatric neurology

authors： Nagai K,Mori T

更新日期：1999-05-01 00:00:00

abstract：BACKGROUND:Very-low-birth-weight preterm infants have a higher rate of language impairments compared with children born full term. Early identification of preterm infants at risk for language delay is essential to guide early intervention at the time of optimal neuroplasticity. This study examined near-term structural ...

journal_title：Pediatric neurology

authors： Vassar R,Schadl K,Cahill-Rowley K,Yeom K,Stevenson D,Rose J

更新日期：2020-07-01 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：:This report presents a patient with Devics neuromyelitis optica associated with primary Sjögrens syndrome. Her first attack was right-sided optic neuritis at age 10 years. Attacks involving both optic nerves and medulla spinalis were recorded during the ensuing years. The diagnosis of Sjögrens syndrome could not be ma...

journal_title：Pediatric neurology

authors： Gökçay F,Celebisoy N,Gökçay A,Kabasakal Y,Oder G

更新日期：2007-01-01 00:00:00

abstract：:A 6-year-old girl (Patient 1) and a 5-year-old boy (Patient 2) with acute disseminated encephalomyelitis after Japanese B encephalitis vaccination are reported. Drowsiness, paresthesias, and gait disturbance were observed at 14 days (Patient 1) and 17 days (Patient 2) after the vaccination; however, transient impairme...

journal_title：Pediatric neurology

authors： Ohtaki E,Murakami Y,Komori H,Yamashita Y,Matsuishi T

更新日期：1992-03-01 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

authors： Uziel G,Garavaglia B,Ciceri E,Moroni I,Rimoldi M

更新日期：1995-11-01 00:00:00

abstract：:The most common clinical syndromes associated with 3-methylglutaconic aciduria are presented. In some patients these syndromes are multisystemic, progressive disorders of unknown etiology. Tissues deriving significant energy through oxidative metabolism (notably brain and cardiac muscle) are most often affected and in...

journal_title：Pediatric neurology

authors： Gibson KM,Elpeleg ON,Jakobs C,Costeff H,Kelley RI

更新日期：1993-03-01 00:00:00

abstract：BACKGROUND:The aim of this study was to assess the sensibility of the hand in children with a neonatal brachial plexus palsy (NBPP) involving the C5 and C6, and to correlate results with dexterity. METHODS:Fifty children with NBPP (30 after nerve surgery, mean age 9.8 years) and 25 healthy controls (mean age 9.6 years...

journal_title：Pediatric neurology

authors： Buitenhuis SM,Pondaag W,Wolterbeek R,Malessy MJA

更新日期：2018-09-01 00:00:00

abstract：:Hemiconvulsion-hemiplegia-epilepsy syndrome involves sudden and prolonged unilateral seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Some patients with familial hemiplegic migraine and demonstrating the S218L mutation in CACNA1A experience severe attacks with uni...

journal_title：Pediatric neurology

authors： Yamazaki S,Ikeno K,Abe T,Tohyama J,Adachi Y

更新日期：2011-09-01 00:00:00

abstract：:To determine the factors affecting the neurodevelopmental outcome in children with posthemorrhagic hydrocephalus, 78 children with intraventricular hemorrhage grade 3 or 4 were analyzed concerning the outcome in relation to the grade of intraventricular hemorrhage and intervention (surgical, medical, or no interventio...

journal_title：Pediatric neurology

authors： Futagi Y,Suzuki Y,Toribe Y,Nakano H,Morimoto K

更新日期：2005-07-01 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

authors： Imaizumi SO,Pleasure JR,Zubrow AB

更新日期：1988-09-01 00:00:00

abstract：:Early-onset ataxia with oculomotor apraxia and hypoalbuminemia is an autosomal recessive cerebellar ataxia characterized by oculomotor apraxia, peripheral neuropathy, and hypoalbuminemia. Mutations in aprataxin gene located at chromosome 9q13 have been identified recently in Japanese and European patients. This study ...

journal_title：Pediatric neurology

authors： Ito A,Yamagata T,Mori M,Momoi MY

更新日期：2005-07-01 00:00:00

abstract：:The updated American Heart Association/American Stroke Association guidelines include recommendation for thrombectomy in certain adult stroke cases. The safety and efficacy of thrombectomy in children are unknown. An 8-year-old girl experienced acute stroke symptoms on two occasions while therapeutically anticoagulate...

journal_title：Pediatric neurology

authors： Buompadre MC,Andres K,Slater LA,Mohseni-Bod H,Guerguerian AM,Branson H,Laughlin S,Armstrong D,Moharir M,deVeber G,Humpl T,Honjo O,Keshavjee S,Ichord R,Pereira V,Dlamini N

更新日期：2017-01-01 00:00:00

abstract：:Idiopathic soft palate paralysis is an isolated clinical entity of unknown cause. Typical clinical features are sudden onset, rhinolalia, and nasal escape of fluids from the ipsilateral nostril. The disorder affects mainly male children at the ages of 2 to 3 years and resolves spontaneously. This report presents a 5-y...

journal_title：Pediatric neurology

authors： Alp H,Tan H,Altunkaynak S,Orbak Z

更新日期：2005-08-01 00:00:00

abstract：:Cranial magnetic resonance imaging abnormalities were observed in 8 children (5 boys, 3 girls; ages 4-14 years) with neurologic problems following infection by Borrelia burgdorferi, the etiologic agent of Lyme disease. Neurologic features included headache (6), behavioral changes (5), facial palsy (2), papilledema (2)...

journal_title：Pediatric neurology

authors： Belman AL,Coyle PK,Roque C,Cantos E

更新日期：1992-11-01 00:00:00

abstract：BACKGROUND:Clinically mild encephalopathy with a reversible splenial lesion (MERS) is the second commonest cause of encephalopathy. Several pathogens have been detected in patients with MERS type 2, such as influenza A and B, but little is known about the proportion of cases of MERS type 2 with this pathogenesis. Human...

journal_title：Pediatric neurology

authors： Sano F,Fukao T,Tamaru K,Kanemura H,Inukai T,Aihara M

更新日期：2020-12-01 00:00:00

abstract：INTRODUCTION:Spinal teratomas are extremely rare; they constitute <0.5% of all spinal cord tumors. These rare tumors have nonspecific manifestations but in most cases are accompanied by neurological deficits. Rupture of a mature teratoma can cause chemical meningitis. PATIENT DESCRIPTION:A 7-year-old boy presented wit...

journal_title：Pediatric neurology

authors： Mpayo LL,Liu XH,Xu M,Wang K,Wang J,Yang L

更新日期：2014-06-01 00:00:00

abstract：:Postoperative seizures are among the more common complications of cardiac surgery in children. These seizures have traditionally been considered benign, transient phenomena with little, if any, prognostic significance. We report 4 infants with early postoperative seizures following cardiac surgery who later developed ...

journal_title：Pediatric neurology

authors： du Plessis AJ,Kramer U,Jonas RA,Wessel DL,Riviello JJ

更新日期：1994-10-01 00:00:00