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Seizures, developmental delay

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https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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...
January 31, 2017: Epilepsia
https://www.readbyqxmd.com/read/28139025/a-de-novo-splice-site-mutation-in-cask-causes-fg-syndrome-4-and-congenital-nystagmus
#6
P Dunn, G P Prigatano, S Szelinger, J Roth, A L Siniard, A M Claasen, R F Richholt, M De Both, J J Corneveaux, A M Moskowitz, C Balak, I S Piras, M Russell, A L Courtright, N Belnap, S Rangasamy, K Ramsey, J M Opitz, D W Craig, V Narayanan, M J Huentelman, I Schrauwen
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, GI hypomotility, and seizures. Here we present a patient with a de novo carboxyl-terminus splice site mutation in CASK (c.2521-2A>G) and clinical features of the rare FG syndrome-4 (FGS4). We provide further characterization of genotype-phenotype correlations in CASK mutations and the presentation of nystagmus and the FGS4 phenotype. There is considerable variability in clinical phenotype among patients with a CASK mutation, even among variants predicted to have similar functionality...
January 31, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28135894/infantile-serine-biosynthesis-defect-due-to-phosphoglycerate-dehydrogenase-deficiency
#7
Paul J Benke, Ryan J Hidalgo, Bruce H Braffman, Judith Jans, Koen L I van Gassen, Rawda Sunbul, Ayman W El-Hattab
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28133555/familial-case-of-pelizaeus-merzbacher-disorder-detected-by-oligoarray-comparative-genomic-hybridization-genotype-to-phenotype-diagnosis
#8
Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad
Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28107673/mri-patterns-of-brain-injury-and-neurodevelopmental-outcomes-in-neonates-with-severe-anaemia-at-birth
#9
Begoña Loureiro, Miriam Martinez-Biarge, Francesca Foti, Maria Papadaki, Frances M Cowan, Courtney J Wusthoff
AIMS: To define patterns of brain injury and associated neurodevelopmental outcomes in infants with severe neonatal anaemia. METHODS: We studied 20 infants with severe anaemia at birth (haemoglobin<7g/dL). Clinical details were analysed for causes of anaemia and co-morbidities. All had early brain magnetic resonance imaging (MRI) scans, which were reviewed for injury pattern. Neurodevelopmental outcomes were assessed at a median age of 24months. RESULTS: The aetiology of the anaemia was feto-maternal haemorrhage in 17 and antepartum haemorrhage in 3 infants...
January 17, 2017: Early Human Development
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#10
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28089766/males-with-mecp2-c-terminal-related-atypical-rett-syndromes-and-their-carrier-mothers
#11
Gabriel M Ronen, Lauren I Brady, Mark A Tarnopolsky
BACKGROUND: This communication examines the expanding phenotypes of the MECP2 C-terminal atypical Rett syndromes in males and their affected carrier mothers. DESCRIPTIONS: We describe three males with normal karyotypes who presented with congenital evolving complex neurodevelopmental encephalopathies with multifaceted symptomatology of hypotonia, epilepsy, ataxia, spasticity, movement disorders, behavioral issues, severe intellectual impairment, and communication skills, and a protracted regression phase followed by stabilization...
October 25, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#12
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28077841/pars2-and-nars2-mutations-in-infantile-onset-neurodegenerative-disorder
#13
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Keitaro Yamada, Tohru Okanishi, Nina Ekhilevitch, Hanna Mandel, Ayelet Eran, Miyuki Toyono, Yukio Sawaishi, Hirotaka Motoi, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs of compound heterozygous mutations, c.[151C>T];[1184T>G] and c.[707T>G];[594+1G>A], and a homozygous mutation, c.[500A>G];[500A>G], in a gene encoding asparaginyl-tRNA synthetase (NARS2) were also identified in the other three families...
January 12, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28064333/neurological-expression-of-an-inherited-translocation-of-chromosomal-1-and-7
#14
Nabil A AlMajhad, Amal M AlHashem, Inesse A Bouhjar, Brahim M Tabarki
An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28043238/recurrent-ataxia-in-children-and-adolescents
#15
Michael S Salman, Samantha F Klassen, Janine L Johnston
BACKGROUND: Recurrent ataxia is encountered infrequently in clinical pediatric neurology practise and presents with diagnostic challenges. It is caused by several disorders. Our aims were to describe the epidemiology and clinical features in children with recurrent ataxia. MATERIALS AND METHODS: A retrospective review was undertaken in 185 children with chronic ataxia, who presented during 1991 to 2008. Several databases were searched to ensure optimum ascertainment...
January 3, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28028858/mid-face-toddler-excoriation-syndrome-mites-a-new-paediatric-diagnosis
#16
S M Srinivas, V K Gowda, C M Owen, C Moss, R Hiremagalore
Chronic ulcerating lesions on the face are rarely seen in toddlers. Blistering disease, vasculitis, infections and self-mutilation due to neurometabolic disease can usually be excluded on clinical and histological grounds. In the absence of identifiable disease, such lesions are sometimes attributed to child abuse or fabricated illness. We describe three toddlers with chronic mid-face erosions, two from India and one from the UK. One had moderate developmental delay and one had had seizures. The lesions appeared to be self-inflicted, no underlying disease was identified and there was no suspicion of child abuse...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28018444/compound-heterozygous-mutations-of-acads-gene-in-newborn-with-short-chain-acyl-coa-dehydrogenase-deficiency-case-report-and-literatures-review
#17
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018439/phelan-mcdermid-syndrome-presenting-with-developmental-delays-and-facial-dysmorphisms
#18
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018437/1p36-deletion-syndrome-confirmed-by-fluorescence-in-situ-hybridization-and-array-comparative-genomic-hybridization-analysis
#19
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28007989/cad-mutations-and-uridine-responsive-epileptic-encephalopathy
#20
Johannes Koch, Johannes A Mayr, Bader Alhaddad, Christian Rauscher, Jörgen Bierau, Reka Kovacs-Nagy, Karlien L M Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch, Hanka Venselaar, Ron A Wevers, Felix Distelmaier, Tilman Polster, Steffen Leiz, Cornelia Betzler, Tim M Strom, Wolfgang Sperl, Thomas Meitinger, Saskia B Wortmann, Tobias B Haack
Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled from uridine. Exome sequencing in three families identified biallelic CAD mutations in four children with global developmental delay, epileptic encephalopathy, and anaemia with anisopoikilocytosis...
December 21, 2016: Brain: a Journal of Neurology
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