Cryptic x; autosome translocation in a boy--delineation of the phenotype.


: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 of X;6 translocation in a 7-year-old boy with severe mental retardation, hypotonia, and recurrent respiratory tract infections. High-resolution chromosome analyses (fluorescence in situ hybridization, multiplex ligation probe-dependent amplification, and whole-genome array) revealed a terminal duplication of chromosome X at q28-qter (approximately 3.246 Mb in size) involving gene MECP2 and a terminal deletion (approximately 1.89 Mb) with the breakpoint at 6q27. This is the second report of a boy with a cryptic unbalanced Xq-autosome translocation. This case increases our understanding of mental disability caused by terminal Xq duplication.


Pediatr Neurol


Pediatric neurology


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




Has Abstract


2011-03-01 00:00:00














  • Cerebral perfusion pressure monitoring in premature newborns.

    abstract::Cerebral perfusion pressure (CPP), believed to be a major determinant of neurologic outcome, was monitored at the bedside of high-risk premature newborns during the first few days of life. Intraventricular hemorrhage was presumed to have occurred in only one of the seven infants and was associated with ventriculomegal...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Braun MA,Rosman NP,Gould JB

    更新日期:1986-07-01 00:00:00

  • Methylphenidate effects on global and complex measures of EEG.

    abstract::Methylphenidate (MPH) effects on global and complex measures of electroencephalography were examined in boys with attention-deficit-hyperactivity disorder between the ages of 9 and 11 years. Electroencephalogram (EEG) data were collected separately from the administration of a continuous performance task and were eval...

    journal_title:Pediatric neurology

    pub_type: 临床试验,杂志文章


    authors: Lubar JF,White JN Jr,Swartwood MO,Swartwood JN

    更新日期:1999-09-01 00:00:00

  • Neuromyelitis optica in a young child with positive serum autoantibody.

    abstract::Relapsing neuromyelitis optica is rare in children. The identification of a highly specific serum autoantibody marker (neuromyelitis optica-immunoglobulin G) differentiates neuromyelitis optica from other demyelinating disorders, particularly in clinically challenging cases. We present a child with multiple episodes o...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Loma IP,Asato MR,Filipink RA,Alper G

    更新日期:2008-09-01 00:00:00

  • EEG changes during open heart surgery on infants aged 6 months or less: relationship to early neurologic morbidity.

    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

    pub_type: 杂志文章


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

    更新日期:1994-03-01 00:00:00

  • Wide cavum septum pellucidum: a marker of disturbed brain development.

    abstract::A wide cavum septum pellucidum defined as a separation of greater than 1 cm of the leaves occurs uncommonly. Nine children with wide cavum septum pellucidum were studied; 8 were abnormal. Observed abnormalities included cognitive impairment (8), seizures (4), hypoplasia of the corpus callosum (4), optic nerve hypoplas...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Bodensteiner JB,Schaefer GB

    更新日期:1990-11-01 00:00:00

  • Mycoplasma pneumoniae infection, meningoencephalitis, and hemophagocytosis.

    abstract::Central nervous system manifestations are a common extrapulmonary complication of Mycoplasma pneumoniae infection, of which encephalitis is a well-recognized abnormality in children. In this report the first description of M. pneumoniae infection simultaneously complicated by meningoencephalitis and hemophagocytosis i...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Bruch LA,Jefferson RJ,Pike MG,Gould SJ,Squier W

    更新日期:2001-07-01 00:00:00

  • Efficacy of lamotrigine and vigabatrin in drug-resistant epilepsies of childhood.

    abstract::It was the purpose of this study to compare the efficacy and side effects of lamotrigine (LTG) and vigabatrin (VGB) as add-on therapy in epilepsies of childhood resistant to conventional drugs. Retrospective analysis of the medical charts and electroencephalograms of 134 children (LTG 57, VGB 77) was performed conside...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Dimova PS,Korinthenberg R

    更新日期:1999-11-01 00:00:00

  • Thrombectomy for Acute Stroke in Childhood: A Case Report, Literature Review, and Recommendations.

    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

    pub_type: 杂志文章,评审


    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

  • Favorable Outcomes With Early Interleukin 6 Receptor Blockade in Severe Acute Necrotizing Encephalopathy of Childhood.

    abstract:BACKGROUND:Outcome in severe acute necrotizing encephalopathy of childhood is poor, with high mortality (30%) and moderate to severe disability in survivors despite the use of intravenous corticosteroids or immunoglobulins. Increased blood interleukin 6 level correlates with poor outcome. METHODS:We report the early u...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Koh JC,Murugasu A,Krishnappa J,Thomas T

    更新日期:2019-09-01 00:00:00

  • Clinical profile of Malay children with optic neuritis.

    abstract::Limited data are available on optic neuritis in Asian children. Clinical profiles tend to vary with different races. We aimed to determine the clinical manifestations, visual outcomes, and etiologies of optic neuritis in Malaysian children, and discuss the literature of optic neuritis in Asian children. A retrospectiv...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Shatriah I,Adlina AR,Alshaarawi S,Wan-Hitam WH

    更新日期:2012-05-01 00:00:00

  • Eastern equine encephalitis presenting with a focal brain lesion.

    abstract::Eastern equine encephalitis (EEE) virus causes a severe meningoencephalitis with high morbidity and mortality. Despite numerous clinical reports of EEE, there are only 11 patients in whom cranial computed tomographic (CT) findings are described. In 6 patients, CT was normal and in 5 patients diffuse edema was present;...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Morse RP,Bennish ML,Darras BT

    更新日期:1992-11-01 00:00:00

  • Symptomatic or cryptogenic partial epilepsy of childhood onset: fourteen-year follow-up.

    abstract::This study reports on the seizure and psychosocial outcome of 29 patients with electroclinically well-defined childhood-onset symptomatogenic or cryptogenic partial epilepsy with complex partial seizures who were followed prospectively over 14 years. Many were refractory at the time of enrollment. At 14-year follow-up...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Szabó CA,Rothner AD,Kotagal P,Erenberg G,Dinner DS,Wyllie E

    更新日期:2001-04-01 00:00:00

  • Leukoencephalopathy around a tumor cyst following intracystic methotrexate injection.

    abstract::A 4-year-old female with choroid plexus carcinoma developed progressive disturbance of consciousness 2 years after postoperative treatment with radiotherapy, chemotherapy, and focal methotrexate injection into a residual tumor cyst. Magnetic resonance imaging revealed white matter lesions localized around the expandin...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Yano T,Sawaishi Y,Hirayama A,Takaku I,Takada G

    更新日期:2005-01-01 00:00:00

  • Early expression of proteolipid protein in human fetal and infantile cerebri.

    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

    pub_type: 杂志文章


    authors: Iai M,Yamamura T,Takashima S

    更新日期:1997-10-01 00:00:00

  • Association of the Slit and Trk-like 1 gene in Taiwanese patients with Tourette syndrome.

    abstract::Tourette syndrome is a neurologic disorder characterized by both motor and vocal tics. Recently, two variants, including a single-base deletion resulting in a truncated protein and a 3'-untranslated-region variant altering a binding site for micro-RNA in the Slit and Trk-like 1 gene, were found to be a genetic cause o...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Chou IC,Wan L,Liu SC,Tsai CH,Tsai FJ

    更新日期:2007-12-01 00:00:00

  • Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.

    abstract:BACKGROUND:The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The evaluation excluded a dystr...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Diniz G,Tosun Yildirim H,Akinci G,Hazan F,Ozturk A,Yararbas K,Tukun A

    更新日期:2014-06-01 00:00:00

  • Cell-Based Versus Enzyme-Linked Immunosorbent Assay for the Detection of Acetylcholine Receptor Antibodies in Chinese Juvenile Myasthenia Gravis.

    abstract:BACKGROUND:Patients in China with juvenile-onset myasthenia gravis present early, with a high prevalence of purely ocular symptoms, spontaneous remission rates, and low antibody seropositivity. Antibody detection using a cell-based assay has been reported to increase the diagnostic sensitivity in adult-onset myasthenia...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Yan C,Li W,Song J,Feng X,Xi J,Lu J,Zhou S,Zhao C

    更新日期:2019-09-01 00:00:00

  • Successful endovascular treatment of cerebral arteriovenous fistula.

    abstract::Childhood intracranial varix is rare and has been associated mostly with vein of Galen fistula or arteriovenous malformation. We present one patient with intracranial arteriovenous fistula with concomitant giant varix in a child. We treated the patient with endovascular embolization and obtained complete closure of fi...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Hung PC,Wang HS

    更新日期:2002-10-01 00:00:00

  • In utero brain lesions in SIDS.

    abstract::Serial examination of the cerebral hemispheres of 20 sudden infant death syndrome victims revealed high incidence of leukomalacia (40%), leptomeningeal glioneuronal heterotopias (70%) at the base of the cerebrum, and astrogliosis (65%) in the white matter and medulla reticular formation compared with 20 age-matched co...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Obonai T,Takashima S

    更新日期:1998-07-01 00:00:00

  • Childhood Moyamoya: Looking Back to the Future.

    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

    pub_type: 杂志文章,评审


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

    更新日期:2019-02-01 00:00:00

  • Case of pediatric acquired chronic hepatocerebral degeneration.

    abstract::Acquired chronic hepatocerebral degeneration is a central nervous system disorder secondary to several conditions related to hepatic dysfunction. Clinical features of acquired chronic hepatocerebral degeneration include a hyperkinetic extrapyramidal syndrome, neuropsychiatric symptoms, or both. We present for the firs...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Papapetropoulos S,Tzakis A,Sengun C,Reddy C,Boukas K,Zitser J,Singer C

    更新日期:2008-01-01 00:00:00

  • Toxicity of Salvia officinalis in a newborn and a child: an alarming report.

    abstract::Although it is widely believed that herbal products are beneficial to the health, some herbal products can result in serious adverse effects, such as epileptic seizures, especially in children who are particularly susceptible. Sage oil contains well-known convulsant substances such as thujone, camphor, and cineole in ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Halicioglu O,Astarcioglu G,Yaprak I,Aydinlioglu H

    更新日期:2011-10-01 00:00:00

  • Atypical Prodromal Symptoms Help to Distinguish Patients With Psychogenic Nonsyncopal Collapse Among Youth Referred for Fainting.

    abstract:BACKGROUND:Distinguishing patients with psychogenic nonsyncopal collapse (PNSC), a conversion disorder that resembles syncope, can pose a difficult clinical challenge. Using the open-ended question "what does it feel like to faint?," the present study aimed to characterize how patients with PNSC perceive and communicat...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审


    authors: Heyer GL

    更新日期:2019-06-01 00:00:00

  • Hallervorden-Spatz syndrome.

    abstract::The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (ne...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审


    authors: Swaiman KF

    更新日期:2001-08-01 00:00:00

  • The supportive academic environment: ingredients for success.

    abstract::Despite the many dire pronouncements of the moribund status of the academic triple threat, this species is far from extinct. Maintenance and, indeed, expansion of this pool of individuals requires their identification and support early in their careers, and nurturing and mentoring throughout their careers. Increasing ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Schor NF

    更新日期:2003-11-01 00:00:00

  • The association of Alagille syndrome and craniosynostosis.

    abstract::Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cau...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Yilmaz S,Turhan T,Mutluer S,Aydogdu S

    更新日期:2013-02-01 00:00:00

  • The pharyngeal-cervical-brachial form of Guillain-Barré syndrome in childhood.

    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

    pub_type: 杂志文章


    authors: Mogale KD,Antony JH,Ryan MM

    更新日期:2005-10-01 00:00:00

  • The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

    abstract:BACKGROUND:ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineu...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审


    authors: Sweney MT,Newcomb TM,Swoboda KJ

    更新日期:2015-01-01 00:00:00

  • Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

    abstract:BACKGROUND:Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS:We performed diagnostic ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Rossi M,El-Khechen D,Black MH,Farwell Hagman KD,Tang S,Powis Z

    更新日期:2017-05-01 00:00:00

  • Rett syndrome: clinical and electrophysiologic aspects.

    abstract::Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Moser SJ,Weber P,Lütschg J

    更新日期:2007-02-01 00:00:00