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














  • Protein-losing enteropathy as a rare complication of the ketogenic diet.

    abstract:INTRODUCTION:The ketogenic diet is a valuable therapy for patients with intractable epilepsy, but it can result in a variety of complications that sometimes limits its usefulness. Hypoproteinemia is one of the common adverse effects of this diet, although the underling mechanism is largely unknown except for the diet's...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Moriyama K,Watanabe M,Yamada Y,Shiihara T

    更新日期:2015-05-01 00:00:00

  • Short term effects of valproate on infantile spasms.

    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

    pub_type: 临床试验,杂志文章,随机对照试验


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

    更新日期:1985-01-01 00:00:00

  • Acute dyskinetic reaction in a healthy toddler following methylphenidate ingestion.

    abstract:BACKGROUND:Acute dyskinetic or dystonic reactions are a long-recognized complication of medications that alter dopamine signaling. Most reactions occur following exposure to agents that block dopamine receptors (e.g., neuroleptics). However, agents that increase dopaminergic transmission (such as methylphenidate) can a...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Waugh JL

    更新日期:2013-07-01 00:00:00

  • Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.

    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

    pub_type: 杂志文章


    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

  • Modeling developmental plasticity after perinatal stroke: defining central therapeutic targets in cerebral palsy.

    abstract::Perinatal stroke is presented as the ideal human model of developmental neuroplasticity. The precise timing, mechanisms, and locations of specific perinatal stroke diseases provide common examples of well defined, focal, perinatal brain injuries. Motor disability (hemiparetic cerebral palsy) constitutes the primary ad...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审


    authors: Kirton A

    更新日期:2013-02-01 00:00:00

  • Availability of frequency-selective fat-saturation pulse (Fat-Sat) MRI in childhood optic neuritis.

    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

    pub_type: 杂志文章


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

    更新日期:1996-01-01 00:00:00

  • Management Strategies for CLN2 Disease.

    abstract::CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindne...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审


    authors: Williams RE,Adams HR,Blohm M,Cohen-Pfeffer JL,de Los Reyes E,Denecke J,Drago K,Fairhurst C,Frazier M,Guelbert N,Kiss S,Kofler A,Lawson JA,Lehwald L,Leung MA,Mikhaylova S,Mink JW,Nickel M,Shediac R,Sims K,Specchio

    更新日期:2017-04-01 00:00:00

  • Angiodysgenetic necrotizing encephalopathy or diffuse meningocerebral angiomatosis.

    abstract::A patient with angiodysgenetic necrotizing encephalopathy or diffuse meningocerebral angiomatosis complicated by intraventricular hemorrhage, posthemorrhagic hydrocephalus, and signs of heart failure is reported. The hydrocephalus and cardiomegaly were diagnosed by fetal ultrasonography. Based on these pathologic find...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Arvanitis DL,Apostolidou IA,Routsis PV,Biskini EI,Kalpoyannis NS

    更新日期:1996-02-01 00:00:00

  • MRI findings in children infected by Borrelia burgdorferi.

    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

    pub_type: 杂志文章


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

    更新日期:1992-11-01 00:00:00

  • Granulomatous herpes simplex encephalitis in an infant with multicystic encephalopathy: a distinct clinicopathologic entity?

    abstract:BACKGROUND:Herpes simplex virus encephalitis can manifest as a range of clinical presentations including classic adult, neonatal, and biphasic chronic-granulomatous herpes encephalitis. METHOD:We report an infant with granulomatous herpes simplex virus type 2 encephalitis with a subacute course and multicystic encepha...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Schutz PW,Fauth CT,Al-Rawahi GN,Pugash D,White VA,Stockler S,Dunham CP

    更新日期:2014-04-01 00:00:00

  • Laterality of brain and ocular lesions in Aicardi syndrome.

    abstract::This study reports a large case series of children with Aicardi syndrome. A new severity scoring system is established to assess sidedness of ocular and brain lesions. Thirty-five children were recruited from Aicardi syndrome family conferences. All children received dilated ophthalmologic examinations, and brain magn...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Cabrera MT,Winn BJ,Porco T,Strominger Z,Barkovich AJ,Hoyt CS,Wakahiro M,Sherr EH

    更新日期:2011-09-01 00:00:00

  • Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15.

    abstract::An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Jovanović-Privrodski JD,Kavecan II,Obrenović MR,Buonadonna LA,Bukvić NM

    更新日期:2009-07-01 00:00:00

  • Parry-Romberg syndrome associated with Adie's pupil and radiologic findings.

    abstract::We describe Adie's pupil and radiologic changes related to Parry-Romberg syndrome in a child who presented with facial hemiatrophy with no neurologic deficit. We suggest that cerebral lesions in Parry-Romberg syndrome without neurologic symptoms must be carefully investigated. ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Aynaci FM,Sen Y,Erdöl H,Ahmetoğlu A,Elmas R

    更新日期:2001-11-01 00:00:00

  • Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging.

    abstract::l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with gene...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Mete A,Isikay S,Sirikci A,Ozkur A,Bayram M

    更新日期:2012-03-01 00:00:00

  • Epidemiology of bacterial meningitis in children: Aichi Prefecture, Japan, 1984-1993.

    abstract::The details of 328 patients with bacterial meningitis, admitted from 1984 through 1993, were obtained from 46 departments of pediatrics of large hospitals through questionnaires. The incidence rate per 100,000 child-years was 2.32, being higher in children aged 0-4 years (rate, 7.22) than 5-15 years (rate, 0.49). The ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Ishikawa T,Asano Y,Morishima T,Nagashima M,Sobue G,Watanabe K,Yamaguchi H

    更新日期:1996-04-01 00:00:00

  • Neurologic complications in galactosemia.

    abstract::Two siblings, a 27-year-old man and his 24-year-old sister were diagnosed with classic transferase deficiency galactosemia at birth and were treated with strict lactose restriction. Despite well-documented dietary management, both siblings are mentally retarded and manifest a progressive neurologic condition character...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Koch TK,Schmidt KA,Wagstaff JE,Ng WG,Packman S

    更新日期:1992-05-01 00:00:00

  • An MRI and MRS study of Pelizaeus-Merzbacher disease.

    abstract::Earlier reports on T2-weighted magnetic resonance imaging (MRI) in the classical form of Pelizaeus-Merzbacher disease seemed to divide the patterns of the high-intensity lesions in the white matter into three subtypes: type I, diffusely hemispheric and corticospinal; type II, diffusely hemispheric without brainstem le...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Nezu A,Kimura S,Takeshita S,Osaka H,Kimura K,Inoue K

    更新日期:1998-04-01 00:00:00

  • Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion.

    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

    pub_type: 杂志文章


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

    更新日期:2008-08-01 00:00:00

  • MRI in infantile neuroaxonal dystrophy.

    abstract::A 6-year-old boy with the typical clinical features of infantile neuroaxonal dystrophy was examined with magnetic resonance imaging. The findings suggested increased metal deposition in the globus pallidus. Magnetic resonance imaging findings of Hallervorden-Spatz syndrome and infantile neuroaxonal dystrophy are simil...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Ito M,Okuno T,Asato R,Mutoh K,Nakano S,Kataoka K,Fujii T,Mikawa H,Saida K

    更新日期:1989-07-01 00:00:00

  • Variability in Preferred Management of Electrographic Seizures in Neonatal Hypoxic Ischemic Encephalopathy.

    abstract:BACKGROUND:Seizures may cause added harm in neonates with hypoxic-ischemic encephalopathy (HIE). Specific recommendations about seizure treatment in this context are lacking. We sought to determine the scope of practice regarding management of non-status epilepticus electrographic-only seizures in this setting. METHOD...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: McNally MA,Hartman AL

    更新日期:2017-12-01 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

  • Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome.

    abstract::A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 y...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Zupanc ML,Chun RW,Gilbert-Barness EF

    更新日期:1990-09-01 00:00:00

  • Alterations in myelin formation in fetal brains of twins.

    abstract::Insufficient nutrition is known to lead to disturbances in postnatal myelin formation. This study aims to demonstrate that early myelination is altered in human twin pregnancies. Five brains of twins with a symmetric blood supply and three brains of twins with chronic fetal-fetal transfusion syndrome (one hypervolemic...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Ulfig N,Nickel J,Saretzki U

    更新日期:1998-10-01 00:00:00

  • CNS relapse of acute myelogenous leukemia masquerading as pseudotumor cerebri.

    abstract::An 18-year-old man in remission from acute myelogenous leukemia 3 years after a bone marrow transplant presented with signs of pseudotumor cerebri, including headache, visual changes, and papilledema. He manifested elevated opening pressure on lumbar puncture and positive cytology, with a concurrent normal bone marrow...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Lipton J,Joffe S,Ullrich NJ

    更新日期:2008-11-01 00:00:00

  • Safety and Efficacy of Delayed-Release Dimethyl Fumarate in Pediatric Patients With Relapsing Multiple Sclerosis (FOCUS).

    abstract:BACKGROUND:No therapies have been formally approved by the Food and Drug Administration for use in pediatric multiple sclerosis, a rare disease. OBJECTIVE:We evaluated the safety, efficacy, and pharmacokinetics of dimethyl fumarate in pediatric patients with multiple sclerosis. METHODS:FOCUS, a phase 2, multicenter s...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,多中心研究


    authors: Alroughani R,Das R,Penner N,Pultz J,Taylor C,Eraly S

    更新日期:2018-06-01 00:00:00

  • Diffusion-Weighted Imaging Changes in a Child With Posterior Ischemic Optic Neuropathy.

    abstract:BACKGROUND:Posterior ischemic optic neuropathy results from ischemia of the retrobulbar aspect of the optic nerve. It presents as acute loss of vision without optic disc swelling. This is rare in children, with only seven cases reported to date. Neuroimaging is frequently used to aid in the diagnosis of acute visual co...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Harrar DB,Solomon J,Shah AS,Vaughn J,Durbin AD,Rivkin MJ

    更新日期:2018-07-01 00:00:00

  • Novel mutation in KCNQ2 causing benign familial neonatal seizures.

    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

    pub_type: 杂志文章


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

    更新日期:2009-11-01 00:00:00

  • Hashimoto's encephalopathy in children and adolescents.

    abstract::Hashimoto's encephalopathy is an underdiagnosed, steroid-responsive, progressive or relapsing encephalopathy associated with high titers of serum antithyroid antibodies. Although Hashimoto's encephalopathy is well documented in adults, it is rarely observed or studied in children and adolescents. We describe the clini...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Erol I,Saygi S,Alehan F

    更新日期:2011-12-01 00:00:00

  • Ophthalmologic presentation of oxidative phosphorylation diseases of childhood.

    abstract::To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Austr...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Rose LV,Rose NT,Elder JE,Thorburn DR,Boneh A

    更新日期:2008-06-01 00:00:00

  • Serum Neuronal Biomarkers in Neonates With Congenital Heart Disease Undergoing Cardiac Surgery.

    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

    pub_type: 杂志文章


    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