Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.


:Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, and the other was a 3-year-old male with a mutation in SURF-1 gene and facial dysmorphism including frontal bossing, brachycephaly, hypertrichosis, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, hypertrophic gums, irregularly placed teeth, upturned nostril, low-set big ears, and retrognathi. The first patient's magnetic resonance imaging at 15 months of age indicated mild symmetric T2 prolongation involving the subthalamic nuclei. His second magnetic resonance imaging at 2 years old revealed a symmetric T2 prolongation involving the subthalamic nuclei, substantia nigra, and medulla lesions. In the second child, at the age of 2 the first magnetic resonance imaging documented heavy brainstem and subthalamic nuclei involvement. A second magnetic resonance imaging, performed when he was 3 years old, revealed diffuse involvement of the substantia nigra and hyperintense lesions of the central tegmental tract in addition to previous lesions. Facial dysmorphism and magnetic resonance imaging findings, observed in these cases, can be specific findings in Leigh syndrome patients with cytochrome C oxidase deficiency. SURF-1 gene mutations must be particularly reviewed in such patients.


Pediatr Neurol


Pediatric neurology


Yüksel A,Seven M,Cetincelik U,Yeşil G,Köksal V




Has Abstract


2006-06-01 00:00:00














  • A Cross-sectional Survey of Growth and Nutritional Status in Children With Cerebral Palsy in West China.

    abstract:BACKGROUND:We describe the growth and nutritional status of children with cerebral palsy (2 to 18 years old) in West China and to explore the correlation between the nutritional status and age, gender, and gross and fine motor function. METHODS:We performed a cross-sectional survey of children registered as having cer...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Wang F,Cai Q,Shi W,Jiang H,Li N,Ma D,Wang Q,Luo R,Mu D

    更新日期:2016-05-01 00:00:00

  • Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596).

    abstract::We report on the case of a 6-year-old boy with epilepsy involving febrile seizures and unprovoked generalized tonic clonic seizures. Genetic testing revealed a novel de novo mutation in the SCN1A gene (C>T 4786, R1596C). The epilepsy phenotype is within the spectrum of generalized epilepsy with febrile seizures plus. ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Dlugos DJ,Ferraro TN,Buono RJ

    更新日期:2007-10-01 00:00:00

  • Clinical manifestations in children with mitochondrial diseases.

    abstract::Mitochondrial diseases comprise a group of complex and heterogeneous genetic disorders. Variable clinical features present a major challenge in pediatric diagnoses. From January 1984-June 2009, 69 patients were diagnosed with either syndromic mitochondrial diseases or nonsyndromic mitochondrial diseases. Clinical mani...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Chi CS,Lee HF,Tsai CR,Lee HJ,Chen LH

    更新日期:2010-09-01 00:00:00

  • Factors associated with behavioral and cognitive abnormalities in children receiving topiramate.

    abstract::The objective of this study was to examine the factors associated with the occurrence of behavioral and cognitive abnormalities in children treated with topiramate. A retrospective chart review of patients up to 18 years of age who had been treated with topiramate at a tertiary epilepsy center was performed. Behaviora...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Gerber PE,Hamiwka L,Connolly MB,Farrell K

    更新日期:2000-03-01 00:00:00

  • Neurologic presentation of triple A syndrome.

    abstract::"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy. Molecular analy...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Dixit A,Chow G,Sarkar A

    更新日期:2011-11-01 00:00:00

  • Congenital neuropathy with the absence of large myelinated fibers.

    abstract::Twelve patients with hereditary motor and sensory neuropathy with the absence of large myelinated fibers have been reported. All of these patients had central nervous system involvement. In this report, we describe the first patient with pure motor and sensory neuropathy with the absence of large myelinated fibers wit...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Fukuda M,Morimoto T,Suzuki Y,Kida K,Ohnishi A

    更新日期:2000-10-01 00:00:00

  • Vitamins ameliorate secondary mitochondrial failure in neonatal rat brain.

    abstract::Recirculation after transient intrauterine ischemia has previously been found to be accompanied by secondary mitochondrial dysfunction in the immature rat brain. This study was performed to assess the efficacy of combined treatment with ascorbic acid and alpha-tocopherol in improving secondary brain damage. On the 17t...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Nakai A,Shibazaki Y,Taniuchi Y,Oya A,Asakura H,Koshino T,Araki T

    更新日期:2002-07-01 00:00:00

  • Congenital muscular dystrophies: clinical review and proposed classification.

    abstract::The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndrom...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审


    authors: Parano E,Pavone L,Fiumara A,Falsaperla R,Trifiletti RR,Dobyns WB

    更新日期:1995-09-01 00:00:00

  • X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

    abstract:BACKGROUND:Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS:We d...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Scalais E,Osterheld E,Weitzel C,De Meirleir L,Mataigne F,Martens G,Shaikh TH,Coughlin CR 2nd,Yu HC,Swanson M,Friederich MW,Scharer G,Helbling D,Wendt-Andrae J,Van Hove JLK

    更新日期:2017-06-01 00:00:00

  • Recurrent Fat Embolic Strokes in a Patient With Duchenne Muscular Dystrophy With Long Bone Fractures and a Patent Foramen Ovale.

    abstract:BACKGROUND:Individuals with Duchenne muscular dystrophy have an increased risk of long bone fractures. Such fractures are sometimes associated with brain dysfunction due to fat embolism syndrome, although this syndrome has seldom been documented in muscular dystrophy patients. PATIENT DESCRIPTION:We describe a child w...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Bugnitz CJ,Cripe LH,Lo WD,Flanigan KM

    更新日期:2016-10-01 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

  • Deterioration on magnetic resonance imaging despite good clinical recovery after viral encephalitis.

    abstract::We present a 2-year-old patient who showed progressive widespread white-matter abnormalities on magnetic resonance imaging 1 month after viral encephalitis, despite her good clinical recovery. These lesions on magnetic resonance imaging had not responded to therapies commonly used to treat secondary immune-mediated de...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Awaya T,Kato T,Shibata M,Yamanaka Y,Nakahata T

    更新日期:2008-03-01 00:00:00

  • Lactate attenuates neuron specific enolase elevation in newborn rats.

    abstract::This study was undertaken to investigate the protective role of lactate on the hypoxic brain in newborn rats. A total of 107 7-day-old Wistar rats were divided into three groups. The lactate accumulation group was given 5% oxygen and 95% nitrogen for 30 minutes. The lactate elimination group was given 5% oxygen, a con...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Ohki S,Togari H,Sobajima H,Fujimoto S,Kobayashi M,Hyodo J

    更新日期:1999-08-01 00:00:00

  • Idiopathic unilateral paralysis of the palate in childhood.

    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

    pub_type: 杂志文章


    authors: Alp H,Tan H,Altunkaynak S,Orbak Z

    更新日期:2005-08-01 00:00:00

  • Acute necrotizing encephalopathy associated with hemophagocytic syndrome.

    abstract::A 7-year-old female suddenly exhibited high fever and convulsions, and entered a semi-coma. She also had thrombocytopenia, elevated aminotransferase, prolonged prothrombin time and activated partial thromboplastin time, and hemophagocytes in the bone marrow. The brain magnetic resonance imaging revealed multiple low-i...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Akiyoshi K,Hamada Y,Yamada H,Kojo M,Izumi T

    更新日期:2006-04-01 00:00:00

  • Approach to diagnosis of oxidative metabolism disorders.

    abstract::Mitochondrial oxidation of a variety of substrates produces the bulk of energy requirements for most cell types. Impairment of oxidative metabolism may result in a broad spectrum of clinical signs and symptoms. A disorder of oxidative metabolism should be suspected when an unexplained association of signs and symptoms...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审


    authors: Breningstall GN

    更新日期:1993-03-01 00:00:00

  • Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis.

    abstract:BACKGROUND:Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients. METHODS:Patients were enrolled via social networking. Clinical features were in...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Wang QL,Guo S,Duan G,Ying Y,Huang P,Liu JY,Zhang X

    更新日期:2016-08-01 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

  • Epidural hematoma of the newborn due to birth trauma.

    abstract::Epidural hematoma due to birth trauma is unusual. The presentation is similar to subdural hematoma in the newborn, but the results of subdural puncture may be normal. The CT scan is diagnostic and early surgical evacuation may be lifesaving. ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Gama CH,Fenichel GM

    更新日期:1985-01-01 00:00:00

  • Discontinuation of medications after successful epilepsy surgery in children.

    abstract::To evaluate the need for antiepileptic drugs after successful epilepsy surgery in pediatric patients, we retrospectively reviewed patients who had epilepsy surgery and were seizure free or had rare nondisabling auras during the first 6 postoperative months. Association between drug discontinuation and seizure recurren...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Lachhwani DK,Loddenkemper T,Holland KD,Kotagal P,Mascha E,Bingaman W,Wyllie E

    更新日期:2008-05-01 00:00:00

  • Bone Health Screening Practices Among Neurologists in Patients on Antiepileptic Drugs: A Quality Improvement Project.

    abstract:BACKGROUND:Pediatric patients with epilepsy are at risk for low vitamin D levels, increasing the risk for bone fractures, yet standardized bone health screening is not part of routine care. METHODS:We surveyed pediatric neurologists (n = 68) at our center regarding screening practices, using an 11-item survey; constru...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Patel AA,An S,Schomer M,Julich K,Elitt C,Heath J,Putman MS,Loddenkemper T

    更新日期:2020-01-01 00:00:00

  • Pediatric Cerebral Cavernous Malformations.

    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

    pub_type: 杂志文章,评审


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

    更新日期:2020-11-27 00:00:00

  • Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding.

    abstract::Type I spinal muscular atrophy (SMA) is a rapidly progressive, degenerative neuromuscular disease of infancy. In severe SMA, weakness, hypotonia, and bulbar involvement lead to progressive respiratory insufficiency and swallowing dysfunction, which are frequently complicated by aspirations. There are few studies repor...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Birnkrant DJ,Pope JF,Martin JE,Repucci AH,Eiben RM

    更新日期:1998-05-01 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

  • Severe fetal acidemia and subsequent neonatal encephalopathy in the larger premature infant.

    abstract::The contribution of intrapartum hypoxia-ischemia to neonatal encephalopathy in the larger preterm infant remains poorly defined. Such infants could become potential candidates for neuroprotective strategies. The objective of this study was to determine in preterm infants of gestation 31 to 36 weeks, with severe fetal ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Salhab WA,Perlman JM

    更新日期:2005-01-01 00:00:00

  • Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients.

    abstract::Möbius syndrome is a rare congenital disease characterized by the paralysis of the facial nerve, accompanied by impaired ocular abduction. We have performed an extensive mutation analysis on a recently identified positional candidate gene, PLEXIN-D1, for Möbius syndrome 2 mapping to chromosome 3q21-q22. Southern analy...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: van der Zwaag B,Verzijl HT,Wichers KH,Beltran-Valero de Bernabe D,Brunner HG,van Bokhoven H,Padberg GW

    更新日期:2004-08-01 00:00:00

  • Neurodevelopmental outcome in children with posthemorrhagic hydrocephalus.

    abstract::To determine the factors affecting the neurodevelopmental outcome in children with posthemorrhagic hydrocephalus, 78 children with intraventricular hemorrhage grade 3 or 4 were analyzed concerning the outcome in relation to the grade of intraventricular hemorrhage and intervention (surgical, medical, or no interventio...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Futagi Y,Suzuki Y,Toribe Y,Nakano H,Morimoto K

    更新日期:2005-07-01 00:00:00

  • ACTH Treatment of Infantile Spasms: Low-Moderate- Versus High-Dose, Natural Versus Synthetic ACTH-A Retrospective Cohort Study.

    abstract:BACKGROUND:High dosages of natural adrenocorticotropic hormone are used in many centers in the United States for the treatment of infantile spasms. However, lower dosages of synthetic adrenocorticotropic hormone (tetracosactide) might be equally efficient as high dosages. We analyzed the treatment options for infantile...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Riikonen R,Lähdetie J,Kokki H

    更新日期:2020-10-01 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

  • Hypomelanosis of Ito associated with precocious puberty.

    abstract::Hypomelanosis of Ito has been associated with precocious puberty in two cases. This study reports a third case involving a female with hypomelanosis of Ito including severe mental retardation and seizure disorder with autonomic symptoms (gastroesophageal reflux and asthma). At age 5 she developed vaginal discharge, th...

    journal_title:Pediatric neurology

    pub_type: 杂志文章


    authors: Rutland BM,Edgar MA,Horenstein MG

    更新日期:2006-01-01 00:00:00