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https://www.readbyqxmd.com/read/28211977/1q21-3-deletion-involving-gatad2b-an-emerging-recurrent-microdeletion-syndrome
#1
Thipwimol Tim-Aroon, Natini Jinawath, Weerin Thammachote, Praweena Sinpitak, Anchalee Limrungsikul, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon
GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup-shaped ears, and clinodactyly...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#2
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27891281/septooptic-dysplasia-with-an-associated-arachnoid-cyst
#3
Skyler V McLaurin-Jiang, Julie K Wood, David F Crudo
A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27506196/prader-willi-syndrome-in-neonates-twenty-cases-and-review-of-the-literature-in-southern-china
#4
Ping Wang, Wei Zhou, Weiming Yuan, Longguang Huang, Ning Zhao, Xiaowen Chen
BACKGROUND: Prader-Willi syndrome is a rare genetic abnormality that can be challenging to diagnose early, but for which early interventions improve prognosis. METHODS: To improve understanding of Prader-Willi syndrome in neonates in Asia, we retrospectively analyzed the clinical records of 20 affected newborns diagnosed in the Department of Neonatology, Guangzhou Women and Children's Medical Center, Guangzhou, China from January 2007 to December 2014 and performed a review of the relevant literature...
2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27486480/partial-monosomy14q-involving-foxg1-and-nova1-in-an-infant-with-microcephaly-seizures-and-severe-developmental-delay
#5
H Fryssira, E Tsoutsou, S Psoni, S Amenta, T Liehr, E Anastasakis, Ch Skentou, A Ntouflia, I Papoulidis, E Manolakos, N Chaliasos
BACKGROUND: FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly, seizures, hypotonia, developmental delay and corpus callosum agenesis. CASE PRESENTATION: We report a 6-month-old female infant, born at 38 weeks of gestation after in vitro fertilization, who presented with feeding difficulties, irritability and developmental delay from the first months of life...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27484419/-skin-to-skin-contact-and-breast-feeding-after-birth-not-always-without-risk
#6
P R Matthijsse, B A Semmekrot, K D Liem
Skin-to-skin contact after birth is propagated to facilitate breast-feeding and mother-child bonding. We describe two term infants with sudden unexpected postnatal collapse (SUPC) during skin-to-skin contact. The infants were found with abnormal colour, hypotonia and apnoea, in a prone position on the chest of their mothers, both of whom were primipara with a high BMI. After stimulation, both infants recovered completely. No specific potential cause, other than the position, could be found. These cases illustrate that skin-to-skin contact after birth is not without risk...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27471823/an-electronic-health-record-investigation-of-lenticulostriate-vasculopathy-features
#7
Jennifer Frankovich, Maximillian Egan, Talia Mahony, William Benitz, Gary Shaw
Objective Lenticulostriate vasculopathy (LSV) is characterized by linear hyperechogenicities in the basal ganglia found on the head ultrasounds of infants. We reviewed electronic health records of infants with and without LSV to investigate whether physician dictations indicated symptoms which could reflect subtle basal ganglia injury. Study Design In a case-control study, we analyzed data from 46 infants with LSV and 127 controls. Infants were stratified between term and preterm birth. Odds ratios (ORs) and 95% confidence intervals were calculated for tone abnormalities, apnea, feeding difficulties, seizures, and movement abnormalities in the presence of LSV...
February 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/27056029/parenteral-nutrition-solution-in-cerebrospinal-fluid-in-preterm-newborn-a-case-report-and-review-of-the-literature
#8
Monika Lachowska, Krzysztof Lachowski, Barbara Królak-Olejnik
INTRODUCTION: Percutaneously inserted central venous catheters (epicutaneo-cava-catheter - ECC) are widely used in neonatal intensive care, facilitating the parenteral nutrition and the treatment of critically ill newborns. This invasive procedure is regarded as safe and associated with low complication rate. Possible life-threatening complications may result from malpositioning of ECC. Paraspinal misplacement of ECC is one of the most serious complications. CASE PRESENTATION: The authors report a case of misplacement of ECC inserted via left saphenous vein for intravenous feeding...
July 12, 2016: Journal of Vascular Access
https://www.readbyqxmd.com/read/26855056/neonatal-severe-hyperparathyroidism-caused-by-homozygous-mutation-in-casr-a-rare-cause-of-life-threatening-hypercalcemia
#9
REVIEW
Heidi Murphy, Jessica Patrick, Eileen Báez-Irizarry, Yves Lacassie, Ricardo Gómez, Alfonso Vargas, Brian Barkemeyer, Sohit Kanotra, Regina M Zambrano
Neonatal severe hyperparathyroidism (NSHPT) is a rare, life-threatening condition that presents with severe hypercalcemia, hyperparathyroidism, and osteopenia in the newborn period. Treatment of NSHPT traditionally includes hydration and bisphosphonates; however newer calcimimetic agents, such as cinacalcet, are now being utilized to prevent or delay parathyroidectomy which is technically difficult in the newborn. Medical treatment success is related to calcium sensing receptor (CaSR) genotype. We report a 4-day-old infant who presented with hyperbilirubinemia, poor feeding, weight loss, severe hypotonia and was ultimately diagnosed with NSHPT...
April 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26575883/-clinical-characteristics-and-gene-mutation-analysis-of-one-pedigree-with-infantile-glycogen-storage-disease-type-ii
#10
Lei Zhang, Xiao-Heng Xu, Ji Wang, Si-Jin Zhang
The clinical data of 2 infants with infantile glycogen storage disease type II (GSD II) from one pedigree were collected. The method of dried blood spots (DBS) was applied to collect peripheral blood samples, and the activity of acid alpha-D-glucosidase (GAA) in leukocytes was measured. The coding region of GAA gene in this pedigree was amplified by polymerase chain reaction and then direct sequencing was used to analyze mutations in GAA gene. The two infants were twins, who were admitted to the hospital due to feeding difficulties, generalized muscle weakness and hypotonia, cardiomegaly, and cardiac insufficiency when they were 10 months old...
November 2015: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/26321353/-congenital-myotonic-dystrophy-type-i-in-a-very-premature-neonate-ethical-concerns
#11
K Van Den Hende, S Durand, R Mesnage, A Filleron, G Cambonie
UNLABELLED: The congenital form of myotonic dystrophy type I (CDM1) corresponds to a>1500 expansion of an unstable trinucleotide (CTG) repeat. Two prognostic factors predict the risk of death in early infancy: maturity of less than 35 weeks of gestation and neonatal invasive ventilation for more than 30 days. OBSERVATION: The case of a 29-week-old premature female infant, conceived by in vitro fertilization, is reported. Generalized hypotonia led to the diagnosis of the disease...
October 2015: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/26310554/-analysis-of-clinical-features-of-6-patients-with-infantile-type-glycogen-storage-disease-type-ii
#12
Juan Ding, Yu Huang, Haipo Yang, Qingyou Zhang, Xinlin Hou, Xueqin Liu, Yanling Yang, Hui Xiong
OBJECTIVE: To summarize clinical features and diagnosis of Chinese infantile patients with glycogen storage disease type II (GSD II). METHOD: Six infant patients with GSD II diagnosed from January 2012 to June 2014 in the Department of Pediatrics, Peking University First Hospital were enrolled into this study. Clinical information of the 6 patients, including clinical manifestation, blood biochemistry, chest X-ray, echocardiogram, electrocardiogram, acid alpha-glucosidase (GAA) activity and GAA gene mutation analysis by direct sequencing of polymerase chain reaction (PCR) product were reviewed...
June 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/25898865/-maternal-uniparental-disomy-14-differential-diagnosis-with-prader-willi-syndrome
#13
Saskia Tamminga, Susanne E Stalman, Gerdine A Kamp, Yvonne M C Hendriks, A C Lia Knegt, M W Mariet Elting
BACKGROUND: Maternal uniparental disomy 14 is a rare genetic disorder in which both chromosomes 14 are maternally inherited. The disorder is characterised by neonatal hypotonia and feeding difficulties, intrauterine or later growth retardation, truncal obesity and precocious puberty. During the neonatal period its clinical phenotype shows great similarities with that of Prader-Willi syndrome. CASE DESCRIPTION: We describe two patients with dysmaturity, neonatal hypotonia and feeding difficulties who initially showed clinical signs of Prader-Willi syndrome...
2015: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/25728777/dominant-mutations-in-kat6a-cause-intellectual-disability-with-recognizable-syndromic-features
#14
MULTICENTER STUDY
Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie Nesbitt, Holly A Dubbs, Elaine H Zackai, Michael J Parker, Francisca Millan, Kenneth Rosenbaum, Golder N Wilson, Ann Nordgren
Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five different de novo heterozygous truncating mutations were located in the C-terminal transactivation domain of KAT6A: NM_001099412.1: c.3116_3117 delCT, p.(Ser1039∗); c.3830_3831insTT, p.(Arg1278Serfs∗17); c.3879 dupA, p.(Glu1294Argfs∗19); c.4108G>T p.(Glu1370∗) and c.4292 dupT, p.(Leu1431Phefs∗8). An additional subject with a 0...
March 5, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/25582465/-sucla2-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome-a-case-report-and-review-of-literature
#15
REVIEW
Zhimei Liu, Fang Fang, Changhong Ding, Husheng Wu, Junlan Lyu, Yun Wu
OBJECTIVE: To analyze the clinical characteristics of SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome (MDS) in one patient, and review the latest clinical research reports. METHOD: Clinical, laboratory and genetic data of one case of SUCLA2-related encephalomyopathic MDS diagnosed by department of Neurology, Beijing Children's Hospital in November, 2013 were reported, and through taking "SUCLA2" as key words to search at CNKI, Wanfang, PubMed and the Human Gene Mutation Database (HGMD) professional to date, the clinical characteristics of 24 reported cases of SUCLA2-related encephalomyopathic MDS in international literature in combination with our case were analyzed...
November 2014: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/25452892/prenatal-diagnosis-of-fetal-encephalomalacia-after-maternal-diabetic-ketoacidosis
#16
Rozalyn Love, Amy Lee, April Matiasek, William Carter, Marissa Ylagan
Introduction Encephalomalacia in a developing fetus is a rare and devastating neurological finding on radiologic imaging. Maternal diabetic ketoacidosis (DKA) can lead to metabolic and vascular derangements which can cause fetal encephalomalacia. Case We report the case of a 27-year-old pregnant woman with White's Class C diabetes mellitus who presented in the 25th week of gestation with DKA. Four weeks after her discharge, marked fetal cerebral ventriculomegaly was noted on ultrasound. A subsequent fetal magnetic resonance imaging (MRI) demonstrated extensive, symmetric cystic encephalomalacia, primarily involving both cerebral hemispheres...
November 2014: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/25424989/phenotypes-of-akt3-deletion-a-case-report-and-literature-review
#17
REVIEW
Dayu Gai, Eric Haan, Matthew Scholar, Jillian Nicholl, Sui Yu
AKT3 (v-akt murine thymoma viral oncogene homolog 3) is located at chromosome 1q44 and encodes a 479 amino acid protein, a member of the protein kinase B (PKB) family. This gene is frequently involved in 1q44 deletion syndrome in patients with microcephaly, intellectual disability, and dysmorphic features. Phenotype and genotype studies of patients with 1q44 deletion syndrome have suggested that deletion of the AKT3 gene is responsible for the microcephaly in these patients. However, the phenotype of pure AKT3 deletion has not been studied...
January 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25373857/gastrointestinal-manifestations-in-diploid-triploid-mixoploidy
#18
Farida K Lalani, Garrett L Elsner, Robert Roger Lebel, Mirza B Beg
A girl infant was delivered by cesarean section at 32 weeks of gestation because of growth arrest and poor movement patterns. The infant had feeding problems, which were based on gastroesophageal reflux, laryngomalacia, and decreased gut motility. Hypotonia was notable from the outset, and the patient eventually displayed significant delays in both motor and cognitive milestones. Meanwhile, lymphocytes had yielded a normal karyotype (46,XX), but at 2 years of age the patient underwent a skin biopsy and mosaicism because a 68,XX cell line was discovered in fibroblasts...
June 2015: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/25365852/a-rare-subtelomeric-deletion-syndrome-wolf-hirschhorn-syndrome
#19
P Zorlu, A S Eksioglu, M Ozkan, T Tos, S Senel
Wolf-Hirschhorn syndrome is caused by a deletion of the distal portion of the short arm of chromosome 4, and is characterized by psychomotor retardation, seizures, congenital malformations, and typical facial appearance including 'Greek warrior helmet' appearance of the nose. The form and the severity of clinical manifestations vary according to the size and location of the deletion. Major complications are severe growth retardation, developmental delay, seizures, feeding difficulties due to hypotonia, and predisposition to respiratory infections...
2014: Genetic Counseling
https://www.readbyqxmd.com/read/25342064/whole-exome-sequencing-in-family-trios-reveals-de-novo-mutations-in-pura-as-a-cause-of-severe-neurodevelopmental-delay-and-learning-disability
#20
David Hunt, Richard J Leventer, Cas Simons, Ryan Taft, Kathryn J Swoboda, Mary Gawne-Cain, Alex C Magee, Peter D Turnpenny, Diana Baralle
BACKGROUND: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios. METHODS: The Deciphering Developmental Disorders study is using whole exome sequencing in family trios to investigate children with severe, sporadic, undiagnosed developmental delay. Three of our patients were ascertained from the first 1133 children to have been investigated through this large-scale study...
December 2014: Journal of Medical Genetics
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