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https://www.readbyqxmd.com/read/28328233/long-term-neurodevelopmental-outcome-of-neonates-with-hypernatremic-dehydration
#1
Hassan Boskabadi, Javad Akhondian, Maliheh Afarideh, Gholamali Maamouri, Sepideh Bagheri, Seyyed Mostafa Parizadeh, Majid Ghayour Mobarhan, Shabnam Mohammadi, Gordon A A Frens
BACKGROUND: Neonatal hypernatremic dehydration (NHD) is a dangerous condition that can lead to severe weight loss, renal impairment, and central nervous system complications. We aimed to evaluate the consequences of NHD in infants in their second year of life. MATERIALS AND METHODS: This was a prospective case-control study in Ghaem hospital, Mashhad, Iran. Sixty-five healthy breastfed neonates (serum sodium concentration <150 mmol/L) and 65 hypernatremic (serum sodium concentration ≥150 mmol/L) neonates were followed up from 2008 to 2011...
March 22, 2017: Breastfeeding Medicine: the Official Journal of the Academy of Breastfeeding Medicine
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#2
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation of proteins and lipids. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG syndrome and epileptic spasms. Epileptic spasms were observed in patients with CDG Ik, Ic, Ix, and Ip subtypes, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28300030/hemispheric-polymicrogyria-and-neonatal-seizures-a-potentially-life-threatening-combination
#3
Paula M Brna, A Simon Harvey, Richard J Leventer
Polymicrogyria (PMG) is a heterogeneous malformation of cortical development characterized by excessive gyration and abnormal cortical lamination. Typically, bilateral forms have more severe developmental delay and early-onset epilepsy, but the full spectrum of severity remains ill-defined. We report two cases of right hemispheric PMG and neonatal-onset, drug-resistant seizures culminating in early death. Case 1 began having seizures on Day 1 of life that intensified in severity and proved resistant to numerous antiepileptic drugs...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28297145/5q14-3-microdeletions-a-contiguous-gene-syndrome-with-capillary-malformation-arteriovenous-malformation-syndrome-and-neurologic-findings
#4
Sung-Min Park, Jeong-Min Kim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Deletions within chromosome region 5q14.3q15 have been associated with a spectrum of disorders including developmental delay, hypotonia, absent speech, mild facial dysmorphism, seizures, and brain anomalies. Some cases of concomitant neurologic abnormalities and cutaneous vascular malformation associated with 5q14.3 deletion have been reported. Previously reported cases had similar features, including multiple capillary malformations, and neurologic abnormalities, including epilepsy, hypotonia, and developmental delay...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28288357/epilepsy-prevalence-and-severity-predictors-in-mri-identified-focal-cortical-dysplasia
#5
Lauren M Maynard, James L Leach, Paul S Horn, Christine G Spaeth, Francesco T Mangano, Katherine D Holland, Lili Miles, Robert Faist, Hansel M Greiner
OBJECTIVES: To determine the prevalence of epilepsy and drug-resistant epilepsy in pediatric patients with focal cortical dysplasia (FCD) identified by magnetic resonance imaging (MRI). To determine clinical and imaging differences between those with drug-resistant epilepsy, drug-responsive epilepsy, and no epilepsy among children with MRI-identified FCD. METHODS: A keyword search of a hospital radiology database identified 97 study participants for inclusion in this retrospective study...
March 6, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28275972/dihydropyrimidine-dehydrogenase-deficiency-metabolic-disease-or-biochemical-phenotype
#6
M Fleger, J Willomitzer, R Meinsma, M Alders, J Meijer, R C M Hennekam, M Huemer, A B P van Kuilenburg
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of pyrimidine metabolism that impairs the first step of uracil und thymine degradation. The spectrum of clinical presentations in subjects with the full biochemical phenotype of DPD deficiency ranges from asymptomatic individuals to severely affected patients suffering from seizures, microcephaly, muscular hypotonia, developmental delay and eye abnormalities.We report on a boy with intellectual disability, significant impairment of speech development, highly active epileptiform discharges on EEG, microcephaly and impaired gross-motor development...
March 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28273706/-multiple-congenital-anomalies-hypotonia-seizures-syndrome-1-case-report-and-review-of-literature
#7
Y F Xu, N Li, G Q Li, X M Wang, Y F Zhou, L Yin, J Wang
Objective: To analyze and summarize the clinical and molecular characteristics of the patients with multiple congenital anomalies- hypotonia-seizures syndrome 1 (MCAHS 1). Method: Clinical data and test results were collected from a patient who was diagnosed with confirmed genetic basis of MCAHS 1 in Shanghai Children's Medical Center since December 2015. The patient and his parents were examined by the next generation sequencing (NGS) technology using peripheral blood genomic DNA, and the relevant mutations identified by NGS were verified with Sanger sequencing...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28273704/-clinical-and-genetic-characteristics-of-children-with-leigh-syndrome
#8
F Fang, Y Shen, D M Shen, Z M Liu, C H Ding, W C Zhang, S Z Sun, J L Lyu, T L Han, X H Wang, W H Zhang, X Y Yang, J W Li, H S Wu
Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children's Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28257338/expansion-of-the-phenotypic-spectrum-in-three-families-of-methyl-cpg-binding-protein-2-duplication-syndrome
#9
Amita Moirangthem, Moni Tuteja Bhatia, Priyanka Srivastava, Kausik Mandal, Archana Rai, Shubha R Phadke
The methyl CpG-binding protein 2 duplication syndrome (OMIM #300260) is characterized by hypotonia, developmental delay, spasticity, seizures, and recurrent infections. It is fully penetrant in males and the females can have varied manifestations because of skewed X-inactivation. The size of the duplication can range from 0.2 Mb to over 100 Mb. Around 150 cases have been reported in the literature so far. Here, we report the unusual findings in three cases such as hepatomegaly, ataxia and females with mild intellectual disability that further expand the phenotypic spectrum of this disorder...
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28256214/opposing-effects-on-nav1-2-function-underlie-differences-between-scn2a-variants-observed-in-individuals-with-autism-spectrum-disorder-or-infantile-seizures
#10
Roy Ben-Shalom, Caroline M Keeshen, Kiara N Berrios, Joon Y An, Stephan J Sanders, Kevin J Bender
BACKGROUND: Variants in the SCN2A gene that disrupt the encoded neuronal sodium channel NaV1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay, and infantile seizures. Variants observed in infantile seizures are predominantly missense, leading to a gain of function and increased neuronal excitability. How variants associated with ASD affect NaV1.2 function and neuronal excitability are unclear. METHODS: We examined the properties of 11 ASD-associated SCN2A variants in heterologous expression systems using whole-cell voltage-clamp electrophysiology and immunohistochemistry...
January 27, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28255779/mutations-in-slc25a22-hyperprolinaemia-vacuolated-fibroblasts-and-presentation-with-developmental-delay
#11
Emma S Reid, Hywel Williams, Glenn Anderson, Malika Benatti, Kling Chong, Chela James, Louise Ocaka, Cheryl Hemingway, Daniel Little, Richard Brown, Alasdair Parker, Simon Holden, Emma Footitt, Shamima Rahman, Paul Gissen, Philippa B Mills, Peter T Clayton
Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novel SLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the literature including hypotonia, refractory neonatal-onset seizures and developmental delay. However, the sixth patients presented atypically with isolated developmental delay, developing late-onset (absence) seizures only at 7 years of age...
March 2, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28246530/an-undiagnosed-case-of-hypothalamic-hamartoma-with-a-rare-presentation
#12
Shervin Badihian, Saeideh Bahrani, Nasim Tabrizi, Houshang Moein, Mohammad Zare, Majid Barekatain, Reza Basiratnia, Elham Rahimian, Amirali Mehvari Habibabadi, Payam Moein, Jafar Mehvari Habibabadi
Background. Hypothalamic hamartomas (HHs) are rare tumor-like malformations that may present with complex partial seizures refractory to anticonvulsants in adulthood. The condition may be misdiagnosed because of rarity. Case Presentation. We report a 25-year-old man with complaint of seizures presented by falling, tonic spasm of limbs, oral automatism, vocalization, and hypermotor activities. His seizures started at the age of one month and presented as eye deviation and upper limbs myoclonic jerk, followed by frequent seizures with variable frequency...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28235671/scn3a-deficiency-associated-with-increased-seizure-susceptibility
#13
Tyra Lamar, Carlos G Vanoye, Jeffrey Calhoun, Jennifer C Wong, Stacey B B Dutton, Benjamin S Jorge, Milen Velinov, Andrew Escayg, Jennifer A Kearney
Mutations in voltage-gated sodium channels expressed highly in the brain (SCN1A, SCN2A, SCN3A, and SCN8A) are responsible for an increasing number of epilepsy syndromes. In particular, mutations in the SCN3A gene, encoding the pore-forming Nav1.3 α subunit, have been identified in patients with focal epilepsy. Biophysical characterization of epilepsy-associated SCN3A variants suggests that both gain- and loss-of-function SCN3A mutations may lead to increased seizure susceptibility. In this report, we identified a novel SCN3A variant (L247P) by whole exome sequencing of a child with focal epilepsy, developmental delay, and autonomic nervous system dysfunction...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28229513/pathogenic-asxl1-somatic-variants-in-reference-databases-complicate-germline-variant-interpretation-for-bohring-opitz-syndrome
#14
Colleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, Beryl B Cummings, Ben Weisburd, Eric V Minikel, Daniel P Birnbaum, Tatiana Tvrdik, Daniel G MacArthur, Rong Mao
The clinical interpretation of genetic variants has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC) database. Pathogenic variants in genes associated with severe, pediatric-onset, highly penetrant, autosomal dominant conditions are assumed to be absent or rare in these databases. Exome sequencing of a six-year-old female patient with seizures, developmental delay, dysmorphic features and failure to thrive identified an ASXL1 variant previously reported as causative of Bohring-Opitz syndrome (BOS)...
February 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#15
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#16
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28202424/gnao1-associated-epileptic-encephalopathy-and-movement-disorders-c-607g-a-variant-represents-a-probable-mutation-hotspot-with-a-distinct-phenotype
#17
Ravindra Arya, Christine Spaeth, Donald L Gilbert, James L Leach, Katherine D Holland
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28182669/a-de-novo-loss-of-function-grin2a-mutation-associated-with-childhood-focal-epilepsy-and-acquired-epileptic-aphasia
#18
Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H Shaulsky, Chun Hu, Stephen F Traynelis, Hongjie Yuan, Yuwu Jiang
OBJECTIVE: N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD). In this study, we investigated the phenotype and underlying molecular mechanism of a GRIN2A missense mutation identified by next generation sequencing on idiopathic focal epilepsy using in vitro electrophysiology. METHODS: Genomic DNA of patients with epilepsy and ID/DD were sequenced by targeted next-generation sequencing within 300 genes related to epilepsy and ID/DD...
2017: PloS One
https://www.readbyqxmd.com/read/28141712/significant-sleep-dysregulation-in-a-toddler-with-developmental-delay
#19
Martin T Stein, Judith Owens, Myles Abbott
Derrick's parents made an appointment with a new pediatrician for a second opinion about disordered sleep. Now 22-months old, he was evaluated at 18 months of age for developmental delay when he was found to have "a regulatory disorder associated with delays in language and motor development, hypotonia and significant sleep problems." The parents are now most concerned about his sleeping pattern. Prolonged sleep onset and frequent night awaking occur each night since 6-months of age. These problems are more severe in the past few months when he awakes screaming and cannot be settled...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28139826/neonatal-nonepileptic-myoclonus-is-a-prominent-clinical-feature-of-kcnq2-gain-of-function-variants-r201c-and-r201h
#20
Sarah B Mulkey, Bruria Ben-Zeev, Joost Nicolai, John L Carroll, Sabine Grønborg, Yong-Hui Jiang, Nishtha Joshi, Megan Kelly, David A Koolen, Mohamad A Mikati, Kristen Park, Phillip L Pearl, Ingrid E Scheffer, Rebecca C Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C Cooper, Maria Roberta Cilio
OBJECTIVE: To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome. METHODS: Ten children with heterozygous, de novo KCNQ2 R201C or R201H variants were identified worldwide, using an institutional review board (IRB)-approved KCNQ2 patient registry and database. We reviewed medical records and, where possible, interviewed parents and treating physicians using a structured, detailed phenotype inventory focusing on the neonatal presentation and subsequent course...
March 2017: Epilepsia
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