First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia.

abstract：:Variant forms of the Guillain-Barré syndrome are characterized by their localized or regional involvement of the peripheral and autonomic nerves. As there is no single clinical or serologic marker for Guillain-Barré syndrome, diagnosis of this condition is based upon consistent clinical, laboratory, and neurophysiolog...

journal_title：Pediatric neurology

authors： Mogale KD,Antony JH,Ryan MM

更新日期：2005-10-01 00:00:00

abstract：:We present a 5-year survival profile of 42 children and adolescents between 1 to 21 years of age in an immobile minimally conscious state, chronically dependent on supportive ventilation. Data were collected from a 22-bed pediatric unit dedicated to this unique population, within a 350-bed geriatric hospital, between ...

journal_title：Pediatric neurology

authors： Gale R,Namestnic J

更新日期：2013-04-01 00:00:00

abstract：:Although brainstem immaturity has been postulated as one of the pathogenesis underlying cyanosis during feeding (CDF), there has been no widely accepted physiologic parameter that reflects brainstem function. We recently proposed that the dissociation index (DI), one of the phasic sleep parameters, is a reliable and q...

journal_title：Pediatric neurology

authors： Kohyama J,Watanabe S,Iwakawa Y

更新日期：1991-05-01 00:00:00

abstract：:The present report concerns a vertically human immunodeficiency virus type 1 (HIV-1)-infected 7-year-old child, in whom a neurodegenerative disease occurred after an acute neurologic disorder that was in all likelihood symptomatic of HIV-1 encephalitis. At the steady state the neurologic disease fulfilled the accepted...

journal_title：Pediatric neurology

authors： Angelini L,Zibordi F,Triulzi F,Pinzani R,Plebani A

更新日期：1999-04-01 00:00:00

abstract：:Cerebral cavernous malformations are the second most common vascular malformations in the central nervous system, and over one-third are found in children. Lesions may be solitary or multiple, be discovered incidentally, be sporadic, or be secondary to familial cavernomatosis or radiation therapy. Children may present...

journal_title：Pediatric neurology

authors： Paddock M,Lanham S,Gill K,Sinha S,Connolly DJA

更新日期：2020-11-27 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

authors： Higuchi Y,Hongou M,Ozawa K,Kokawa H,Masaki M

更新日期：2005-05-01 00:00:00

abstract：:Two patients with neonatal onset of arm weakness resulting from neoplastic involvement of the brachial plexus who were initially considered to have obstetric brachial plexus palsies are reported. The first patient was a 7-day-old female who presented with a left supraclavicular mass that was first detected at 2 days o...

journal_title：Pediatric neurology

authors： Alfonso I,Papazian O,Prieto G,Alfonso DT,Melnick SJ

更新日期：2000-04-01 00:00:00

abstract：:The peripartum period entails the next prenatal interval when novel neuroprotective strategies will be designed and tested. Research development will lead to novel evaluations for maternal-fetal pairs who require inpatient treatment and possible delivery for worsening or acute neurologic problems. Future studies shoul...

journal_title：Pediatric neurology

authors： Scher MS

更新日期：2012-12-01 00:00:00

abstract：:Ketoacidosis is one of the common complications of Type I insulin-dependent diabetes mellitus. Several neurologic (cerebral) deficiencies have been associated with diabetic ketoacidosis, including cerebral edema with increased intracranial pressure resulting in coma; partial and generalized seizures; and cerebrovascul...

journal_title：Pediatric neurology

authors： Atluru VL

更新日期：1986-05-01 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：:Reversible posterior leukoencephalopathy syndrome is a recently recognized disorder with characteristic radiologic findings that mainly involve the white/gray matter of the parieto-occipital lobes. This complex syndrome is associated with cyclosporine A therapy or a variety of other conditions in which blood pressure ...

journal_title：Pediatric neurology

authors： Kwon S,Koo J,Lee S

更新日期：2001-05-01 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:Brain radiotherapy plays a central role in the treatment of certain types of childhood primary central nervous system tumors. However, damage to surrounding normal brain tissue causes different acute and chronic medical and neurological complications. Despite the expected increase in number of childhood prim...

journal_title：Pediatric neurology

authors： Passos J,Nzwalo H,Marques J,Azevedo A,Netto E,Nunes S,Salgado D

更新日期：2015-09-01 00:00:00

abstract：:The costs of epilepsy encompass all aspects of life, including medical, educational, and psychosocial. Adults with intractable epilepsy who undergo epilepsy surgery and have seizure-free outcomes still have significant barriers in the attainment of improved quality of life. For this reason, there is increasing interes...

journal_title：Pediatric neurology

authors： Zupanc ML

更新日期：1997-09-01 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：OBJECTIVE:We evaluated the frequency of six commonly reported adult migraine premonitory symptoms in children and adolescents with episodic and chronic migraine and elicited psychological or behavioral comorbidities that may be associated with these symptoms. BACKGROUND:Premonitory symptoms are commonly reported in th...

journal_title：Pediatric neurology

authors： Jacobs H,Pakalnis A

更新日期：2019-08-01 00:00:00

abstract：:Benign paroxysmal torticollis in infancy is characterized by periods of torticollic posturing of the head. The onset of the episodes usually occurs during the first month of life and may recur at varying intervals until the age of 1-5 years. This appears to be a self-limited disorder. The follow-up of 7 patients with ...

journal_title：Pediatric neurology

authors： Cohen HA,Nussinovitch M,Ashkenasi A,Straussberg R,Kauschanksy A,Frydman M

更新日期：1993-11-01 00:00:00

abstract：:The temporal latency between an encephalopathic event and the onset of infantile spasms cannot be determined in the majority of symptomatic cases (e.g. genetic conditions, cerebral malformations). However, we can measure this interval when a previously normal infant sustains brain injury followed by infantile spasms. ...

journal_title：Pediatric neurology

authors： Guggenheim MA,Frost JD Jr,Hrachovy RA

更新日期：2008-01-01 00:00:00

abstract：BACKGROUND:Arterial ischemic stroke occurs more frequently in term newborns than in the elderly, and brain immaturity affects mechanisms of ischemic injury and recovery. The susceptibility to injury of the brain was assumed to be lower in the perinatal period as compared with childhood. This concept was recently challe...

journal_title：Pediatric neurology

authors： Titomanlio L,Fernández-López D,Manganozzi L,Moretti R,Vexler ZS,Gressens P

更新日期：2015-06-01 00:00:00

abstract：BACKGROUND:Sleep problems affect 30% to 80% of patients with mild traumatic brain injury. We assessed the prevalence of sleep disorders after mild traumatic brain injury and its correlation with other symptoms. METHODS AND MATERIALS:Individuals with mild traumatic brain injury were assessed at the New York University ...

journal_title：Pediatric neurology

authors： Tkachenko N,Singh K,Hasanaj L,Serrano L,Kothare SV

更新日期：2016-04-01 00:00:00

abstract：:Cardiac arrhythmia may be one of the major causes of sudden unexpected death in children with epilepsy. We assessed drug-induced QT prolongation to establish whether the use of antiepileptic drugs contributes to sudden unexpected death. A total of 178 children with epilepsy (93 males and 85 females, with ages ranging ...

journal_title：Pediatric neurology

authors： Kwon S,Lee S,Hyun M,Choe BH,Kim Y,Park W,Cho Y

更新日期：2004-02-01 00:00:00

abstract：BACKGROUND:Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT:A 4-month-old boy was referred for poor feeding, emesis, failu...

journal_title：Pediatric neurology

authors： Horst DM,Ruess L,Rusin JA,Bartholomew DW

更新日期：2014-11-01 00:00:00

abstract：:The aim of this study is to further clarify ictal electroencephalographic findings of patients with benign partial epilepsy in infancy in order to better understand its neurophysiologic features. The study group consisted of 13 infants with definite benign partial epilepsy in infancy, in whom ictal electroencephalogra...

journal_title：Pediatric neurology

authors： Okumura A,Watanabe K,Negoro T,Hayakawa F,Kato T,Natsume J

更新日期：2007-01-01 00:00:00

abstract：:Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condit...

journal_title：Pediatric neurology

authors： Lundy CT,Jungbluth H,Pohl KR,Siddiqui A,Marinaki AM,Mundy H,Champion MP

更新日期：2010-11-01 00:00:00

abstract：:Although peripheral vascular thrombic events are recognized as a serious extra-intestinal complication of inflammatory bowel disease, the occurrence of cerebral vascular events in association with acute exacerbations of this group of diseases is rare. In this article, relevant literature is reviewed and three children...

journal_title：Pediatric neurology

authors： Keene DL,Matzinger MA,Jacob PJ,Humphreys P

更新日期：2001-03-01 00:00:00

abstract：:Cloxazolam has been used mainly as an anxiolytic agent. The present study was designed to evaluate the effectiveness of cloxazolam as an add-on antiepileptic drug in patients with intractable epilepsy. A total of 32 patients with intractable epilepsy were treated with cloxazolam: 13 with generalized epilepsy, 15 with ...

journal_title：Pediatric neurology

authors： Kimura N,Fujii T,Miyajima T,Kumada T,Mikuni T,Ito M

更新日期：2010-12-01 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：:Three siblings, devoid of hair at birth, had an unusual autosomal recessive disorder characterized by universal congenital alopecia, microcephaly, seizures, psychomotor retardation, and severe growth failure. Metabolic and chromosome studies were normal. Skin biopsies disclosed immature hair follicles, some of which w...

journal_title：Pediatric neurology

authors： Wessel HB,Barmada MA,Hashida Y

更新日期：1987-03-01 00:00:00

abstract：:A 2-year-old boy with acute optic neuritis, confirmed by gadolinium-DTPA enhancement of the optic nerve using frequency-selective fat-saturation pulse magnetic resonance imaging (Fat-Sat MRI), is reported. Because it is difficult in very young children to sufficiently evaluate visual acuity, visual field, and retroocu...

journal_title：Pediatric neurology

authors： Takanashi J,Sugita K,Matsubayashi J,Sato K,Niimi H

更新日期：1996-01-01 00:00:00

abstract：:The somatosensory evoked potentials from the lower extremities were measured postoperatively in 15 patients with biliary atresia to investigate whether they were free of neurologic dysfunction. Because long-standing cholestasis causes progressive neuropathy due to malabsorption of vitamin E, the serum vitamin E, D, an...

journal_title：Pediatric neurology

authors： Kubota M,Suita S,Kamimura T,Shono K

更新日期：1997-04-01 00:00:00