Cystinuria with congenital myotonic dystrophy.

abstract：:Obstetrical brachial plexus palsy, one of the most complex peripheral nerve injuries, presents as an injury during the neonatal period. The majority of the children recover with either no deficit or a minor functional deficit, but it is almost certain that some will not regain adequate limb function. These few cases m...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Psychogiou K

更新日期：2008-04-01 00:00:00

abstract：:We describe a case of female Becker muscular dystrophy with 45,X/46,X,r(X), carrying an out-of-frame deletion in a nonhot-spot region of the DMD gene. Multiplex polymerase chain reaction did not detect the deletion, because the deleted exons 31-42 comprise a nonhot-spot region, and the product for exon 43 was detected...

journal_title：Pediatric neurology

authors： Lee KA,Han SH,Choi JR,Chung JS,Choi YC

更新日期：2008-08-01 00:00:00

abstract：:Visual evoked potentials (VEPs) were recorded in 32 children (ages 4 months to 5 years) who were clinically diagnosed as being cortically blind. None of the children had visual or neurologic abnormalities prior to the precipitating insult which included surgery (N = 15), trauma (N = 3), infectious disease (N = 5), hyp...

journal_title：Pediatric neurology

authors： Taylor MJ,McCulloch DL

更新日期：1991-03-01 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

authors： Goh S

更新日期：2007-11-01 00:00:00

abstract：:Alexia without agraphia is a rare disconnection syndrome characterized by the loss of reading ability with retention of writing and verbal comprehension. We report a patient who developed alexia without agraphia after undergoing a biopsy for a malignant glioma involving the left thalamus. A 15-year-old right-handed ma...

journal_title：Pediatric neurology

authors： Tamhankar MA,Coslett HB,Fisher MJ,Sutton LN,Liu GT

更新日期：2004-02-01 00:00:00

abstract：:Proteolipid protein (PLP) is the major myelin protein of the central nervous system and is widely believed to play an important structural role in maintaining the myelin compaction. We have studied the early developmental changes of PLP with immunohistochemical methods. Our data demonstrate for the first time a compar...

journal_title：Pediatric neurology

authors： Iai M,Yamamura T,Takashima S

更新日期：1997-10-01 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

authors： Goldberg-Stern H,Kaufmann R,Kivity S,Afawi Z,Heron SE

更新日期：2009-11-01 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

authors： Ceulemans BP,Claes LR,Lagae LG

更新日期：2004-04-01 00:00:00

abstract：:In a prospective study, we analyzed the intraoperative electroencephalographic (EEG) changes during open heart surgery with deep hypothermia in 66 infants aged 6 months or younger, 70% of whom were neonates. Suppression of amplitude and continuity at the nadir of temperature reduction and following rewarming, and the ...

journal_title：Pediatric neurology

authors： Miller G,Rodichok LD,Baylen BG,Myers JL

更新日期：1994-03-01 00:00:00

abstract：BACKGROUND:Classic L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa therapy. Dopa-responsive dystonia succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of ...

journal_title：Pediatric neurology

authors： Friedman JR

更新日期：2016-06-01 00:00:00

abstract：:Spasticity is one of the most common symptoms presented by neurologic patients. Apart from surgical management, drug therapy is an important treatment of children suffering from spasticity. In this review, recent advances in the pharmacologic armamentarium are reported in detail. In particular, there are oral medicati...

journal_title：Pediatric neurology

authors： Verrotti A,Greco R,Spalice A,Chiarelli F,Iannetti P

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND:Newborns with congenital heart disease have associated brain damage that affects short-and long-term neurodevelopment. Several neuronal biomarkers exist that could predict brain damage. We investigated the pattern of neuron-specific enolase (NSE) and s100B levels after cardiopulmonary bypass surgery in neona...

journal_title：Pediatric neurology

authors： Trakas E,Domnina Y,Panigrahy A,Baust T,Callahan PM,Morell VO,Munoz R,Bell MJ,Sanchez-de-Toledo J

更新日期：2017-07-01 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：:Children with Rett syndrome manifest profound impairments in their ability to speak and use their hands, and exhibit a very limited repertoire of abilities to express themselves, to be neuropsychologically tested, and consequently to be understood. This study examined nonverbal cognitive abilities and visual preferenc...

journal_title：Pediatric neurology

authors： Djukic A,McDermott MV

更新日期：2012-04-01 00:00:00

abstract：BACKGROUND:Cyclic vomiting syndrome is characterized by recurrent vomiting that is associated with increased adrenocorticotropic hormone and antidiuretic hormone levels during cyclic vomiting syndrome attacks. However, both prognosis and treatment remain unclear. We therefore evaluated the clinical features, prognosis,...

journal_title：Pediatric neurology

authors： Hikita T,Kodama H,Ogita K,Kaneko S,Nakamoto N,Mimaki M

更新日期：2016-04-01 00:00:00

abstract：BACKGROUND:Insomnia and low iron stores are common in children with autism spectrum disorders, and low iron stores have been associated with sleep disturbance. METHODS:We performed a randomized placebo-controlled trial of oral ferrous sulfate to treat insomnia in children with autism spectrum disorders and low normal ...

journal_title：Pediatric neurology

authors： Reynolds AM,Connolly HV,Katz T,Goldman SE,Weiss SK,Halbower AC,Shui AM,Macklin EA,Hyman SL,Malow BA

更新日期：2020-03-01 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：: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：BACKGROUND:This study developed a Farsi language Communication Function Classification System and then tested its reliability and validity. METHODS:Communication Function Classification System is designed to classify the communication functions of individuals with cerebral palsy. Up until now, there has been no instru...

journal_title：Pediatric neurology

authors： Soleymani Z,Joveini G,Baghestani AR

更新日期：2015-03-01 00:00:00

abstract：BACKGROUND:To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS:We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroer...

journal_title：Pediatric neurology

authors： Nelson GR,Bale JF,Kerr LM

更新日期：2017-01-01 00:00:00

abstract：:The relationship between the dose of ACTH and the initial effect was investigated in 41 children with infantile spasms. More than 0.015 mg (0.6 IU)/kg/day of ACTH was needed for a good initial response of seizures and electroencephalographic abnormalities. The relationship between the dose of ACTH and long-term progno...

journal_title：Pediatric neurology

authors： Ito M,Okuno T,Fujii T,Mutoh K,Oguro K,Shiraishi H,Shirasaka Y,Mikawa H

更新日期：1990-07-01 00:00:00

abstract：:Moyamoya is a chronic, progressive steno-occlusive arteriopathy that typically affects the anterior circulation arteries of the circle of Willis. A network of deep thalamoperforating and lenticulostriate collaterals develop to by-pass the occlusion giving rise to the characteristic angiographic "puff of smoke" appeara...

journal_title：Pediatric neurology

authors： Dlamini N,Muthusami P,Amlie-Lefond C

更新日期：2019-02-01 00:00:00

abstract：BACKGROUND:Pediatric critical care survivors often suffer persisting multisystem health problems and are left with treatment needs that go unmet due to limits in current care models. We proposed that integration of neuropsychology into neurocritical care follow-up provides incremental benefit to the identification and ...

journal_title：Pediatric neurology

authors： Dodd JN,Hall TA,Guilliams K,Guerriero RM,Wagner A,Malone S,Williams CN,Hartman ME,Piantino J

更新日期：2018-12-01 00:00:00

abstract：BACKGROUND:Central nervous system complications of bone marrow transplant are a common occurrence and the differential diagnosis is quite broad, including opportunistic infections, medications toxicities, graft versus host disease, and other autoimmune processes. PATIENT DESCRIPTION:We summarize previously reported ca...

journal_title：Pediatric neurology

authors： Baumer FM,Kamihara J,Gorman MP

更新日期：2015-01-01 00:00:00

abstract：:Ninety term neonates with hyperbilirubinemia were studied with brainstem auditory evoked response to clarify the ototoxic effect of hyperbilirubinemia, and detect any differences in ototoxic effect between different levels of total serum bilirubin. The response threshold in these neonates was significantly elevated (P...

journal_title：Pediatric neurology

authors： Jiang ZD,Chen C,Liu TT,Wilkinson AR

更新日期：2007-07-01 00:00:00

abstract：:Rapid eye movement sleep distribution changes during development, but little is known about rapid eye movement latency variation in childhood by age, sex, or pathologic sleep states. We hypothesized that: (1) rapid eye movement latency would differ in normal children by age, with a younger cohort (1-10 years) demonstr...

journal_title：Pediatric neurology

authors： Mason TB 2nd,Teoh L,Calabro K,Traylor J,Karamessinis L,Schultz B,Samuel J,Gallagher PR,Marcus CL

更新日期：2008-09-01 00:00:00

abstract：:We report on a 16-year-old girl with muscular atrophy of a distal upper extremity (Hirayama disease). The disease progressed insidiously, and during our first examination, she exhibited weakness and wasting in the right hand, accompanied by cold paresis. No sensory disturbance was evident. A nerve conduction test reve...

journal_title：Pediatric neurology

authors： Hosokawa T,Fujieda M,Wakiguchi H,Oosaki Y

更新日期：2010-08-01 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

authors： Scher MS

更新日期：2003-09-01 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：:The brain structure of 14 infants born with congenital myotonic dystrophy at 2 hospitals was evaluated by cranial ultrasonography, and the findings were correlated with clinical and neuropathologic data. Ventricular dilation was diagnosed in 11 infants (78%). Seven infants died during the neonatal period; all had vent...

journal_title：Pediatric neurology

authors： Garcia-Alix A,Cabañas F,Morales C,Pellicer A,Echevarria J,Paisan L,Quero J

更新日期：1991-01-01 00:00:00