Molybdenum cofactor deficiency: clinical features in a Turkish patient.


:The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischaemic encephalopathy. Although milder cases with later onset and less severe symptoms have been identified, the classic presentation involves neonatal seizures, progressive encephalopathy and death at an early age. There is currently no effective therapy, and the prognosis is poor. The disorder should be considered in all cases of intractable seizures in the newborn period and infants with clinical and radiological features of ischaemic encephalopathy, especially when no obvious lesion is detected. Blood uric acid measurement should be included in the battery of tests to be performed in all neonates' refractory seizures. We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c.130C>T in cDNA of the MOCS2 gene from the infant.


Brain Dev


Brain & development


Per H,Gümüş H,Ichida K,Cağlayan O,Kumandaş S




Has Abstract


2007-07-01 00:00:00














  • Developmental changes in brain activation and functional connectivity during response inhibition in the early childhood brain.

    abstract::Response inhibition is an attention function which develops relatively early during childhood. Behavioral data suggest that by the age of 3, children master the basic task requirements for the assessment of response inhibition but performance improves substantially until the age of 7. The neuronal mechanisms underlyin...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Mehnert J,Akhrif A,Telkemeyer S,Rossi S,Schmitz CH,Steinbrink J,Wartenburger I,Obrig H,Neufang S

    更新日期:2013-11-01 00:00:00

  • Pseudotumor cerebri as an important differential diagnosis of papilledema in children.

    abstract:INTRODUCTION:Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Vi...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Distelmaier F,Sengler U,Messing-Juenger M,Assmann B,Mayatepek E,Rosenbaum T

    更新日期:2006-04-01 00:00:00

  • Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case.

    abstract::Wolf-Hirschhorn syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and ca...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Tutunculer F,Acunas B,Hicdonmez T,Deviren A,Pelitli V

    更新日期:2004-04-01 00:00:00

  • Long-term effectiveness of ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy.

    abstract:PURPOSE:We performed this study to evaluate the long-term efficacy and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients with newly diagnosed childhood absence epilepsy. METHODS:We retrospectively reviewed the medical records of 128 patients (45 boys a...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Hwang H,Kim H,Kim SH,Kim SH,Lim BC,Chae JH,Choi JE,Kim KJ,Hwang YS

    更新日期:2012-05-01 00:00:00

  • Convulsive syncope following placement of sphenoidal electrodes.

    abstract::Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: DeToledo JC

    更新日期:1999-04-01 00:00:00

  • Effects of neurosurgical treatment on diffuse slow spike and wave complex: a case of left frontal mass lesion with diffuse slow spike and wave complex (DSSW).

    abstract::A 10-year-old girl with a mass lesion in the left deep frontal lobe was reported. Clinically, seizures occurred at 3 years and 8 months and became intractable around the age of 5.5 years. EEG initially showed focal spikes on the left fronto-central area and later developed into diffuse slow spike and wave complexes (D...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Honda K,Shinomiya N,Nomura Y,Sato K,Segawa M

    更新日期:1985-01-01 00:00:00

  • Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

    abstract::Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more i...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Castro-Gago M,Dacruz-Alvarez D,Pintos-Martínez E,Beiras-Iglesias A,Arenas J,Martín MÁ,Martínez-Azorín F

    更新日期:2016-01-01 00:00:00

  • PIGA related disorder as a range of phenotypes rather than two distinct subtypes.

    abstract::Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...

    journal_title:Brain & development



    authors: Cash SJ,Mcgue BP,Reynolds TS,Crist ER

    更新日期:2020-02-01 00:00:00

  • Post-traumatic syndrome after minor head injury cannot be predicted by neurological investigations.

    abstract::The aim of this study is to investigate predictive factors of post-traumatic syndrome in children with minor head injury. Prospective neurological, electroencephalographic and psychological investigations were performed in 98 children aged 3-13 years within 24 h after the trauma and 4-6 weeks later. Inclusion criteria...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Korinthenberg R,Schreck J,Weser J,Lehmkuhl G

    更新日期:2004-03-01 00:00:00

  • Electroencephalographic features of epileptic drop attacks and absence seizures: a case study.

    abstract::A study of epileptic drop attacks (EDA) by simultaneous video-polygraphic recordings was carried out in one epileptic patient with myoclonic astatic seizures (Doose syndrome). EDA was shown to correspond to a burst of generalized bilaterally synchronous spike and wave complexes (GBSSW) at 3 Hz. Absence seizures were a...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Oguni H,Imaizumi Y,Uehara T,Oguni M,Fukuyama Y

    更新日期:1993-05-01 00:00:00

  • Familial pachygyria in both genders related to a DCX mutation.

    abstract::Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative gene variants in a large family with late-childhood-onset focal epile...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Kim YO,Nam TS,Park C,Kim SK,Yoon W,Choi SY,Kim MK,Woo YJ

    更新日期:2016-06-01 00:00:00

  • Idiopathic hypereosinophilic syndrome complicated by central sinovenous thrombosis.

    abstract::Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral thromboembolism. We report a 7-year-old boy with IHES who developed central sinovenous thrombosis and cerebral hemorrhage. Although he had hypereosino...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Sakuta R,Tomita Y,Ohashi M,Nagai T,Murakami N

    更新日期:2007-04-01 00:00:00

  • Risk factors for recurrence after drug withdrawal in childhood epilepsy.

    abstract:BACKGROUND:Several studies have been conducted to determine the risk of recurrence after withdrawal of antiepileptic drugs (AEDs) in recent years. There is no consensus concerning the circumstances affecting discontinuation of AEDs. This study was designed to determine the recurrence rate of epilepsy after withdrawal o...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Karalok ZS,Guven A,Öztürk Z,Gurkas E

    更新日期:2020-01-01 00:00:00

  • Using postural reactions as a screening test to identify high-risk infants for cerebral palsy: a prospective study.

    abstract::To clarify the predictive value of the seven more commonly used postural reactions (PR) in the 1st year of life regarding the diagnosis of cerebral palsy (CP), we prospectively examined 204 high-risk infants of whom 58 developed CP, 22 had developmental retardation (DR) and 124 were normal at follow-up at 3 years of a...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Zafeiriou DI,Tsikoulas IG,Kremenopoulos GM,Kontopoulos EE

    更新日期:1998-08-01 00:00:00

  • Short latency somatosensory evoked potentials and 99mTc-HMPAO SPECT in a case of flunarizine-effective alternating hemiplegia in infancy.

    abstract::Short latency somatosensory evoked potentials (SSEPs) and 99mTc-hexamethylpropylene amine oxime single photon emission computed tomography (99mTc-HMPAO SPECT) were examined in a patient with alternating hemiplegia in infancy (AHI) before and after flunarizine treatment. The low amplitude and elongation of the latency ...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Imamura A,Komori Y,Fukutomi O,Shimozawa N,Suzuki Y,Kondo N,Orii T

    更新日期:1994-07-01 00:00:00

  • Ictal EEG in patients with convulsions with mild gastroenteritis.

    abstract::The aim of this study is to reveal detailed clinical manifestations and an evolution of ictal EEG discharges of convulsions with mild gastroenteritis (CwG). We recorded ictal EEGs of six patients with CwG. Clinical manifestations included loss of responsiveness, motion arrest, cyanosis, lateral eye deviation, and hemi...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Maruyama K,Okumura A,Sofue A,Ishihara N,Watanabe K

    更新日期:2007-01-01 00:00:00

  • Familial porencephalic white matter disease in two generations.

    abstract::We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypo...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Smit LM,Barth PG,Valk J,Njiokiktjien C

    更新日期:1984-01-01 00:00:00

  • Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey.

    abstract:OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RES...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Fujii T,Ito Y,Takahashi S,Shimono K,Natsume J,Yanagihara K,Oguni H

    更新日期:2016-08-01 00:00:00

  • Neurochemistry evaluated by MR spectroscopy in a patient with xeroderma pigmentosum group A.

    abstract::MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Yokota K,Sano K,Murofushi Y,Yoshimaru D,Takanashi JI

    更新日期:2018-11-01 00:00:00

  • Development of a new screening tool for neuromotor development in children aged two - the neuromotor 5 min exam 2-year-old version (N5E2).

    abstract:OBJECTIVE:As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5 min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reli...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Aoki S,Hashimoto K,Mezawa H,Hatakenaka Y,Yasumitsu-Lovell K,Suganuma N,Ohya Y,Wilson P,Fernell E,Kamio Y,Gillberg C

    更新日期:2018-06-01 00:00:00

  • Genetically engineered human neural stem cells for brain repair in neurological diseases.

    abstract::Neural stem cells (NSCs)of the central nervous system (CNS) have recently received a great deal of attention and interest for their therapeutic potential for neurological disorders. NSCs are defined as CNS progenitor cells that have the capacity for self-renewal and multipotent potential to become neurons or glial cel...

    journal_title:Brain & development

    pub_type: 杂志文章,评审


    authors: Kim SU

    更新日期:2007-05-01 00:00:00

  • A case of neonatal spinal cord injury: magnetic resonance imaging and somatosensory evoked potentials.

    abstract::This is the first case report on the diagnosis of spinal cord injury due to hemorrhage during the neonatal period using magnetic resonance imaging (MRI). Somatosensory evoked potentials are also helpful in the functional demonstration of this lesion. When discrepant signs, alert consciousness and intact cranial nerves...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Minami T,Ise K,Kukita J,Koyanagi T,Ueda K

    更新日期:1994-01-01 00:00:00

  • An autopsy case of bathtub drowning in epilepsy.

    abstract::We report an autopsy case of bathtub drowning in epilepsy. A 26-year-old female with mental retardation had been treated for refractory epilepsy. Her younger sister found her floating supine in the bathtub 45 min after starting bathing. Neuropathological examination revealed cerebral cortical dysplasia in the precentr...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Osamura T,Fushiki S,Yoshioka H,Yamanaka T,Mizuta R

    更新日期:1997-11-01 00:00:00

  • Towards early diagnosis and treatment to save children from catastrophic epilepsy -- focus on epilepsy surgery.

    abstract:OBJECTIVE:To analyze and to discuss whether by paying attention to the many recent advancements in the field of pediatric epilepsy surgery catastrophic childhood epilepsies caused by definitive or suspected structural lesions can be prevented more often these days in comparison to the past. METHODS:Based on data from ...

    journal_title:Brain & development

    pub_type: 杂志文章,评审


    authors: Holthausen H,Pieper T,Kudernatsch M

    更新日期:2013-09-01 00:00:00

  • Tuberous sclerosis: the incidence of sporadic cases versus familial cases.

    abstract::In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sensitive diagnostic tests available, negative results with these methods...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Fleury P,de Groot WP,Delleman JW,Verbeeten B Jr,Frankenmolen-Witkiezwicz IM

    更新日期:1980-01-01 00:00:00

  • Two siblings with partial trisomy 1(q42.3-ter).

    abstract::Two brothers, aged 6 and 4 years, with an unbalanced chromosome translocation (partial trisomy 1), and their mother, a balanced carrier of the translocation, t(1;3)(q42.3;p26.3), were described. Both patients show minor anomalies; a large head with a prominent forehead, low-set and soaring ears, a high-arched palate, ...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Sunaga Y,Ohtsuka T,Nagashima K,Kuroume T

    更新日期:1993-03-01 00:00:00

  • Vertebral artery insufficiency as a possible mechanism for sudden infant death--in vivo evidence does not support findings from postmortem studies.

    abstract::Recent postmortem studies have suggested that sudden infant death syndrome (SIDS) might involve an underlying, gradual brain stem injury caused by repeated episodes of transiently compromised brain stem circulation. Autopsy studies have also reported that vertebral artery occlusion due to head rotations, such as occur...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Vanhatalo S,Nikolajev K,Kiekara O,Seuri R,Riikonen R

    更新日期:2003-08-01 00:00:00

  • Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

    abstract::Mutations of the gene encoding the alpha2 subunit of the neuronal sodium channel, SCN2A, have been found in benign familial neonatal-infantile seizures (BFNIS). In Dravet syndrome, only one nonsense mutation of SCN2A was identified, while hundreds of mutations were found in the paralogue gene, SCN1A, which encodes the...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Shi X,Yasumoto S,Nakagawa E,Fukasawa T,Uchiya S,Hirose S

    更新日期:2009-11-01 00:00:00

  • The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children.

    abstract:OBJECTIVE:Epilepsy with continuous spikes and waves during slow sleep (ECSWS) is associated with cognitive deficits. The underlying mechanism is thought to relate to disturbance of functions of the foci by the persistent epileptic activity. However, the relationship between epileptic foci and cognitive deficits remains...

    journal_title:Brain & development

    pub_type: 杂志文章


    authors: Magara S,Komatsubara T,Hojo M,Kobayashi Y,Yoshino M,Saitoh A,Tohyama J

    更新日期:2019-02-01 00:00:00

  • The role of hypoxia-inducible transcription factors in the hypoxic neonatal brain.

    abstract::Hypoxia-inducible transcription factors (HIF)-1 and HIF-2, composed of an oxygen-dependent alpha-subunit and a constitutive beta-subunit, have been characterized as the most important regulators of oxygen homeostasis during physiological and pathological conditions. During embryonic, fetal and postnatal brain developm...

    journal_title:Brain & development

    pub_type: 杂志文章,评审


    authors: Trollmann R,Gassmann M

    更新日期:2009-08-01 00:00:00