Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy.

abstract：:Tuberous sclerosis complex is an autosomal dominant multisystem disorder. Spontaneous mutations occur in up to 60% of patients with gene loci located on chromosomes 9q34 (TSC1) and 16p13 (TSC2). Diagnosis is established with the identification of various neurocutaneous markers and multiple organ system hamartomas. The...

journal_title：Journal of child neurology

authors： DiMario FJ Jr

更新日期：2004-09-01 00:00:00

abstract：:Maple syrup urine disease is a disorder of branched-chain keto acid metabolism. Three children were diagnosed with the intermediate form of maple syrup urine disease during routine evaluation of mental retardation. Clinical features were characterized by mental retardation, seizures, autistic features, and movement di...

journal_title：Journal of child neurology

authors： Bindu PS,Shehanaz KE,Christopher R,Pal PK,Ravishankar S

更新日期：2007-07-01 00:00:00

abstract：:Recent technological advances in gene sequencing have led to a rapid increase in gene discovery in epilepsy. However, the ability to assess pathogenicity of variants, provide functional analysis, and develop targeted therapies has not kept pace with rapid advances in sequencing technology. Thus, although clinical gene...

journal_title：Journal of child neurology

authors： Smith LA,Ullmann JF,Olson HE,Achkar CM,Truglio G,Kelly M,Rosen-Sheidley B,Poduri A

更新日期：2017-03-01 00:00:00

abstract：:Abnormal zinc metabolism in a 6-year-old male patient with Landau-Kleffner syndrome (acquired aphasia and convulsive disorder) is the subject of our report. We describe a significant decrease of erythrocyte and plasma zinc levels in the patient as compared with normal. Red blood cell zinc content is normally 38.5 +/- ...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Statter M,Lerman P

更新日期：1987-01-01 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：:Intracranial tuberculoma in infants are a rare occurrence. We report a 7-month-old male infant presenting to our tertiary care referral center with complaints of global developmental delay and right hemiparesis for 3 months. Radiologic imaging was suggestive of large left frontoinsular space-occupying lesion with init...

journal_title：Journal of child neurology

authors： Raheja A,Sinha S,Sable MN,Sharma MC,Sharma BS

更新日期：2015-03-01 00:00:00

abstract：:We previously reported that patients with spinal muscular atrophy do not lose muscle strength over time as measured quantitatively. However, we noted that many patients with spinal muscular atrophy suffer from what they call fatigue. We wondered if we could measure fatigue during a single maximal voluntary contraction...

journal_title：Journal of child neurology

authors： Iannaccone ST,White M,Browne R,Russman B,Buncher R,Samaha FJ

更新日期：1997-08-01 00:00:00

abstract：:The intrauterine onset of convulsive syndromes has been documented only rarely, and previous reports have lacked detailed neuropathologic description. This report details a case of severe, intractable myoclonic encephalopathy, which, on the basis of severely abnormal paroxysmal fetal movement patterns confirmed by ant...

journal_title：Journal of child neurology

authors： du Plessis AJ,Kaufmann WE,Kupsky WJ

更新日期：1993-04-01 00:00:00

abstract：:The aim of this study was to investigate the alteration of the gait pattern in 25 children with Duchenne muscular dystrophy, using body-worn inertial sensors during a long walking distance. Normalized spatiotemporal gait parameters and their variability were extracted from the angular velocity of the shanks; the smoot...

journal_title：Journal of child neurology

authors： Ganea R,Jeannet PY,Paraschiv-Ionescu A,Goemans NM,Piot C,Van den Hauwe M,Aminian K

更新日期：2012-01-01 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：:Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which ...

journal_title：Journal of child neurology

authors： Ronen GM,Rosenbaum MP,Streiner DL

更新日期：2000-12-01 00:00:00

abstract：:In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding...

journal_title：Journal of child neurology

authors： DiMario FJ Jr,Bauer L,Baxter D

更新日期：1998-09-01 00:00:00

abstract：:Multiple sclerosis onset in youth is increasingly recognized. A systematic review was conducted to assess incidence and prevalence of pediatric-onset multiple sclerosis, focusing on occurrence by age subgroups and disease course. A literature search for the period 1965-2018 was carried out, selecting population-based ...

journal_title：Journal of child neurology

authors： Jeong A,Oleske DM,Holman J

更新日期：2019-10-01 00:00:00

abstract：:Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse ...

journal_title：Journal of child neurology

authors： Orcesi S,Gorni K,Termine C,Uggetti C,Veggiotti P,Carrara F,Zeviani M,Berardinelli A,Lanzi G

更新日期：2006-01-01 00:00:00

abstract：:We explored child neurologists' attitudes toward taking on the role of health care surrogate for terminally ill children. Physician members of the Child Neurology Society were sent a 16-question survey via email. Of the assumed 1050 recipients, 116 (11%) answered the questionnaire. Most individuals who have been in pr...

journal_title：Journal of child neurology

authors： Weisleder P,Perkins E,McLaughlin A

更新日期：2011-03-01 00:00:00

abstract：:The diagnosis of anterior spinal artery syndrome can be made with high accuracy by thorough clinical examination in combination with typical magnetic resonance imaging findings. Sudden onset of tetra- or paraparesis and dissociated sensory loss with bladder dysfunction are the leading clinical signs. We discuss clinic...

journal_title：Journal of child neurology

authors： Ramelli GP,Wyttenbach R,von der Weid N,Ozdoba C

更新日期：2001-02-01 00:00:00

abstract：:A 15-month-old girl demonstrated progressive weakness in all limbs. Magnetic resonance imaging (MRI) on admission revealed (1) diffuse and symmetric cervical cord swelling, (2) diffuse decrease and increase in signal intensity within the affected cord on T1- and T2-weighted images, respectively, (3) preserved anatomic...

journal_title：Journal of child neurology

authors： Yamamoto K,Nakagawa H,Kato S,Abe J,Inoue S,Shibuya H

更新日期：1992-04-01 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：:Seven children between 2 and 15 years of age with cerebral palsy and upper extremity dystonia were enrolled in an open-label, dose-escalation pilot clinical trial of botulinum toxin type B (Myobloc), injected into the biceps and brachioradialis muscles of I or both arms. The primary outcome measure was the change in m...

journal_title：Journal of child neurology

authors： Sanger TD,Kukke SN,Sherman-Levine S

更新日期：2007-01-01 00:00:00

abstract：:Subacute sclerosing panencephalitis is an almost universally fatal late complication of measles infection for which there is no established treatment. We report a patient with subacute sclerosing panencephalitis who was bed-bound and ataxic and had a left hemiparesis and frequent myoclonus. He was started on a new reg...

journal_title：Journal of child neurology

authors： Solomon T,Hart CA,Vinjamuri S,Beeching NJ,Malucci C,Humphrey P

更新日期：2002-09-01 00:00:00

abstract：:Diagnostic ultrasound has been extensively used for neurologic evaluation of cranial, vascular and spinal diseases. This study presents the techniques, methodology, and procedures for a new diagnostic application of ultrasound for evaluation of the neuromuscular system. In order to determine the optimum sonographic ch...

journal_title：Journal of child neurology

authors： Fischer AQ,Stephens S

更新日期：1988-01-01 00:00:00

abstract：:Neural tube defects are common birth defects, the frequency of which appears to be reduced by maternal supplementation and/or fortification of folic acid. Latin Americans have a high incidence of neural tube defects. We surveyed the dietary intake of Honduran women of childbearing age using a 24-hour dietary recall qu...

journal_title：Journal of child neurology

authors： Holden KR,Collins JS,Greene JF,Hinkle S,Nave AF,Portillo JM,Page GP,Stevenson RE,Honduran Neural Tube Defect Project Team.

更新日期：2002-05-01 00:00:00

abstract：:Healthy Chinese individuals (n = 168), aged from 24 hours to 30 years, were studied to establish the following normal values: (1) motor conduction velocity, distal latency, amplitude, and F-wave velocity in the median, ulnar, tibial, and peroneal nerves; (2) H-reflex velocity and latency in the tibial nerve for all su...

journal_title：Journal of child neurology

authors： Cai F,Zhang J

更新日期：1997-01-01 00:00:00

abstract：:This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. Aft...

journal_title：Journal of child neurology

authors： Dimario FJ Jr,Edwards C

更新日期：2012-05-01 00:00:00

abstract：:A behavior questionnaire was used retrospectively in 21 manic-depressive children to quantitate manic-depressive behaviors before and after treatment with lithium carbonate. The study children were matched with 21 control children for age, race, sex, and socioeconomic status. The study children had significantly more ...

journal_title：Journal of child neurology

authors： Younes RP,DeLong GR,Neiman G,Rosner B

更新日期：1986-10-01 00:00:00

abstract：:Three normal children with headache occurring only with exertion were advised to try "head cooling" (eg, immersion of the head in cold water, cold water poured over the head, application of a cold, wet towel or ice pack) at the onset of headache. The patients were followed up quarterly as outpatients, and the effectiv...

journal_title：Journal of child neurology

authors： Singh RK,Martinez A,Baxter P

更新日期：2006-12-01 00:00:00

abstract：:The clinical picture, family history, laboratory data, treatment modalities, and outcome in 27 juvenile myasthenics seen over a 25-year period are presented. Onset was after 10 years of age in the majority of patients. Half presented with ocular signs, the other half with generalized-onset myasthenia. Half of those wi...

journal_title：Journal of child neurology

authors： Afifi AK,Bell WE

更新日期：1993-10-01 00:00:00

abstract：:To contribute to characterize electroencephalographic (EEG) activity in pediatric anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis, we reviewed electroclinical data of 5 children with anti-NMDA receptor encephalitis diagnosed in our department. We identified 4 longitudinal electroencephalographic phases: in...

journal_title：Journal of child neurology

authors： Nosadini M,Boniver C,Zuliani L,de Palma L,Cainelli E,Battistella PA,Toldo I,Suppiej A,Sartori S

更新日期：2015-02-01 00:00:00

abstract：:The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...

journal_title：Journal of child neurology

authors： Wasay M,Ajmal S,Taqui AM,Uddin N,Azam I,Husen Y,Nizami SQ

更新日期：2010-05-01 00:00:00

abstract：:This study was performed to determine the utility of 99mTc-hexamethylpropylenamine oxime (HMPAO) brain single photon emission computed tomography (SPECT) in evaluating patients with childhood absence epilepsy. Twenty-three patients (13 female, 10 male), aged 7 to 15 years (mean age 10.3 +/- 2.2), were studied. All pat...

journal_title：Journal of child neurology

authors： Kapucu LO,Serdaroğlu A,Okuyaz C,Köse G,Gücüyener K

更新日期：2003-08-01 00:00:00