Abstract：
BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clinical features present during childhood in patients with a PTEN mutation are yet to be elucidated. METHODS:PTEN mutations were investigated by multiplex targeted sequencing of genomic DNA from 33 children with increased head circumference (>+2 SD) and developmental delay. The clinical features of all the patients with a PTEN mutation were abstracted by dysmorphologists. RESULTS:We have identified six children with a PTEN mutation. Clinical dissection of these six patients, in addition to patient reports in the literature, revealed distinctive facial features that included frontal bossing, dolichocephaly, horizontal eyebrows, and a depressed nasal bridge. Macrocephaly (+3.2 to +6.0 SD) was noticeable compared to their height (-0.8 to +2.1 SD), and the difference in the SD value of head circumference and height was more than 3 SD in all patients. CONCLUSION:The presence of distinctive facies, extreme macrocephaly with normal to mildly high stature, and developmental delay may be useful for identifying patients with a PTEN mutation in childhood. Early identification of patients with a PTEN mutation would help uncover the natural course of tumor development in this group of individuals who have a possible predisposition to cancer, and be important for the development of an optimal surveillance strategy.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Kato K,Mizuno S,Inaba M,Fukumura S,Kurahashi N,Maruyama K,Ieda D,Ohashi K,Hori I,Negishi Y,Hattori A,Saitoh Sdoi
10.1016/j.braindev.2018.04.008subject
Has Abstractpub_date
2018-09-01 00:00:00pages
678-684issue
8eissn
0387-7604issn
1872-7131pii
S0387-7604(18)30175-Xjournal_volume
40pub_type
杂志文章abstract：:Germ cell tumors originating in the posterior fossa are very rare. Described herein is a case of primary germ cell tumor (yolk sac tumor) found in the cerebellar vermis. A 5-year-old boy who complained of headache was admitted. CT and MRI revealed a tumor with diffuse enhancement by contrast medium in the right cerebe...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90128-7
更新日期：1994-09-01 00:00:00
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
doi：10.1016/j.braindev.2015.12.005
更新日期：2016-06-01 00:00:00
abstract：OBJECTIVES:Acute encephalopathy with reduced subcortical diffusion (AED) covers a spectrum including not only typical acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) but also atypical AESD with monophasic clinical course, or more severe subtypes. Aim of this study is to analyze prognostic ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.11.007
更新日期：2012-09-01 00:00:00
abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.003
更新日期：2016-08-01 00:00:00
abstract：BACKGROUND:Amplitude-integrated electroencephalogram (aEEG) at <6 h is the best single outcome predictor in term infants with perinatal asphyxia at normothermia. Hypothermia treatment has changed the cutoff values for outcome prediction by using time at onset of normal trace and SWC. Cerebral hemodynamics and oxygenati...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.06.005
更新日期：2012-04-01 00:00:00
abstract：:Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00093-1
更新日期：2002-10-01 00:00:00
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
doi：10.1016/j.braindev.2018.01.012
更新日期：2018-06-01 00:00:00
abstract：:In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(02)00228-0
更新日期：2003-06-01 00:00:00
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
doi：10.1016/j.braindev.2006.07.012
更新日期：2007-05-01 00:00:00
abstract：OBJECTIVE:Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. METHODS:We recruited patients with pathogenic o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.12.006
更新日期：2021-01-09 00:00:00
abstract：:Eight patients who satisfied the following three criteria: 1) autistic behavior, 2) mental retardation and 3) stereotypic hand movements were evaluated. Four patients fulfilled the diagnostic criteria for the Rett syndrome developed by representatives of the International Rett Syndrome Association and the Center for D...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80054-4
更新日期：1991-07-01 00:00:00
abstract：OBJECTIVE:This study was performed to evaluate the efficacy and safety of intravenous phenobarbital (PB) for benign convulsions with mild gastroenteritis (CwG). METHODS:A randomized, single-blind, placebo-controlled trial involving patients with CwG was conducted at the Japanese Red Cross Society Himeji Hospital. Pati...
journal_title：Brain & development
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.braindev.2019.03.014
更新日期：2019-08-01 00:00:00
abstract：:Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00284-4
更新日期：2001-11-01 00:00:00
abstract：:To determine the effect of flunarizine therapy on patients with alternating hemiplegia of childhood (AHC), we sent a questionnaire by mail to council members of the Japanese Society of Child Neurology. We collected 28 AHC patients, and studied their clinical courses and the effects of drug therapy. All of the patients...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00229-7
更新日期：2001-08-01 00:00:00
abstract：:Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1980-01-01 00:00:00
abstract：:Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00077-6
更新日期：1997-12-01 00:00:00
abstract：:Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.04.004
更新日期：2005-01-01 00:00:00
abstract：:Since 1988, we have diagnosed 6 cases of hereditary progressive dystonia with marked diurnal fluctuation (HPD) in Taiwan. All cases presented with clinical features similar to those described by Segawa. They consisted of four sporadic and two familial cases. The age at onset ranged from 18 months to 8 years. There is ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90048-5
更新日期：1994-03-01 00:00:00
abstract：BACKGROUND:Takuto Rehabilitation Center for Children is located in Sendai, the capital of the Miyagi prefecture, and faces the Pacific Ocean. The tsunami caused by the Great East Japan Earthquake resulted in tremendous damage to this region. Many physically handicapped patients with epilepsy who are treated at our hosp...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.005
更新日期：2016-08-01 00:00:00
abstract：:Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.09.002
更新日期：2017-02-01 00:00:00
abstract：:The pathogenesis of Menkes disease seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with Menkes disease by giving vitamin C orally. The cl...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80122-4
更新日期：1985-01-01 00:00:00
abstract：:A 1-year-old female with acute bilateral striatal necrosis secondary to exanthema subitum associated with human herpesvirus 6 (HHV-6) infection is reported. The patient was previously healthy. She presented with progressive neurologic signs of oral dyskinesia and involuntary movements, after suffering from exanthema s...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.12.004
更新日期：2005-10-01 00:00:00
abstract：BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.08.004
更新日期：2016-02-01 00:00:00
abstract：:The incidence of brain tumors in children under 15 years of age in the United States is 2.4/100,000. Based upon a US population of approximately 60 million black and white children, there are only 1,200-1,500 newly diagnosed causes of CNS neoplasia diagnosed in children each year in the US. These relatively small numb...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(89)80017-8
更新日期：1989-01-01 00:00:00
abstract：BACKGROUND:Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 vari...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.06.011
更新日期：2015-04-01 00:00:00
abstract：:Blink reflex can be elicited by sudden strong auditory stimulation. Using a special transducer wer recorded this reflex which appears as a microvibration of the eyelid, and named it auditory-evoked eyelid microvibration (AMV). As the reflex pathway of AMV exists in the brainstem, AMV is an easy and useful way of knowi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80009-1
更新日期：1984-01-01 00:00:00
abstract：:Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentatio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.007
更新日期：2007-05-01 00:00:00
abstract：BACKGROUND AND PURPOSE:Bottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child d...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.08.007
更新日期：2021-02-01 00:00:00
abstract：:A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(88)80045-7
更新日期：1988-01-01 00:00:00
abstract：:We measured neopterin, biopterin and nitric oxide (NO) concentrations in the cerebrospinal fluid of pediatric patients with central nervous system (CNS) infectious diseases. The nitric oxide and neopterin concentrations were significantly elevated in encephalitis patients, especially in two cases with serious neurolog...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00217-6
更新日期：2003-04-01 00:00:00
