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Cerebellar hypoplasia

Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga
Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia-pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutation's effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L...
February 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Geetha Anand, Grace Vasallo, Maria Spanou, Saumya Thomas, Michael Pike, Didu Sanduni Kariyawasam, Sanjay Mehta, Allyson Parry, Juliette Durie-Gair, James Nicholson, Karine Lascelles, Vanessa Everett, Frances Mary Gibbon, Nicola Jarvis, John Elston, Dafydd Gareth Evans, Dorothy Halliday
OBJECTIVE: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation. DESIGN: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service...
March 13, 2018: Archives of Disease in Childhood
Mayumi Takano, Masahiko Nakata, Ayako Oji, Sumito Nagasaki, Nahomi Umemura, Toshimitsu Maemura, Mineto Morita
AIM: This study was aimed to determine reference ranges for fetal cerebellar hemisphere biometry, including the transverse cerebellar diameter (TCD), anteroposterior cerebellar diameter (APCD) and APCD/TCD ratio in normal fetuses. In addition, we investigated which parameter would be useful for cerebellar hypoplasia in trisomy 18. METHODS: This retrospective study included 340 normal singleton pregnancies and 15 cases of trisomy 18, in all of which fetal cerebellar biometry was performed between 14 and 40 weeks of gestational age (GA)...
March 8, 2018: Journal of Obstetrics and Gynaecology Research
Stéphanie Moortgat, Damien Lederer, Marie Deprez, Marga Buzatu, Philippe Clapuyt, Sébastien Boulanger, Valérie Benoit, Sandrine Mary, Agnès Guichet, Alban Ziegler, Estelle Colin, Dominique Bonneau, Isabelle Maystadt
Mutations in the oligophrenin 1 gene (OPHN1) have been identified in patients with X-linked intellectual disability (XLID) associated with cerebellar hypoplasia and ventriculomegaly, suggesting it could be a recognizable syndromic intellectual disability (ID). Affected individuals share additional clinical features including speech delay, seizures, strabismus, behavioral difficulties, and slight facial dysmorphism. OPHN1 is located in Xq12 and encodes a Rho-GTPase-activating protein involved in the regulation of the G-protein cycle...
March 3, 2018: European Journal of Medical Genetics
Daniel Bamborschke, Matthias Pergande, Kerstin Becker, Friederike Körber, Jörg Dötsch, Anne Vierzig, Lutz T Weber, Sebahattin Cirak
INTRODUCTION: Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1. CASE REPORT: We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as cerebellar hypoplasia and hyperintensity in the pons...
February 28, 2018: Brain & Development
Karina Krajden Haratz, Sharon Leshem Shulevitz, Zvi Leibovitz, Dorit Lev, Shalev Josef, Mordechai Tomarkin, Gustavo Malinger, Tally Lerman-Sagie, Liat Gindes
OBJECTIVE: Prenatal diagnosis of midbrain-hindbrain malformations rely primarily on abnormal size and shape of the cerebellum and retrocerebellar space. The aim of this study was to present the 4th ventricle index (4VI), and to evaluate its role as a marker of severe vermian dysgenesis / agenesis cases without an open 4th ventricle (4v). METHODS: This prospective cross-sectional study included 384 healthy fetuses between 14 to 37 gestational weeks. Axial images of the 4v were obtained and the 4VI was calculated as the ratio between the latero-lateral and anteroposterior diameters...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
Tessa van Dijk, Jan-Dirk Vermeij, Silvana van Koningsbruggen, Phillis Lakeman, Frank Baas, Bwee Tien Poll-The
Mutations in the SEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, in whom a homozygous missense mutation in the SEPSECS gene (c.1321G>A; p.Gly441Arg) was identified with whole exome sequencing...
February 20, 2018: Journal of Inherited Metabolic Disease
Parveen Bhardwaj, Minoo Sharma, Karan Ahluwalia
Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. Since the clinical findings of JS are quite heterogeneous, determination of radiological findings is essential.
January 2018: Journal of Neurosciences in Rural Practice
Katie Weihbrecht, Wesley A Goar, Calvin S Carter, Val C Sheffield, Seongjin Seo
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also associated with BBS. To better understand the patho-mechanisms of NPHP and BBS caused by loss of SDCCAG8 function, we characterized an SDCCAG8 mouse model (Sdccag8Tn(sb-Tyr)2161B...
2018: PloS One
Jie Zhang, Zhongbin Zhang, Yao Zhang, Ye Wu
Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl-tRNA synthetase 2 (RARS2) gene. To the best of our knowledge, 23 cases with relatively complete clinical data have been reported thus far. In the present study, a case with PCH6 caused by novel RARS2 mutations is described, in which distinct magnetic resonance imaging (MRI) features were identified. In addition, 23 PCH6 cases found in the literature were reviewed. Early onset hypotonia (43...
January 2018: Experimental and Therapeutic Medicine
Leslie E W LaConte, Vrushali Chavan, Abdallah F Elias, Cynthia Hudson, Corbin Schwanke, Katie Styren, Jonathan Shoof, Fernando Kok, Sarika Srivastava, Konark Mukherjee
Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, however, has not been directly tested. Missense variants in CASK are typically asymptomatic in girls. We report three severely affected girls with heterozygous CASK missense mutations (M519T (2), G659D (1)) who exhibit ID, microcephaly, and hindbrain hypoplasia...
February 9, 2018: Human Genetics
E A Faqeih, M Almannai, M M Saleh, A H AlWadie, M M Samman, F S Alkuraya
The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with two pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from four consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Posterior fossa abnormalities (ranging from Dandy-Walker malformation to isolated hypoplasia of the cerebellar vermis) were consistently observed in addition to other variable neuroradiological abnormalities such as hydrocephalus and abnormal brain myelination...
February 6, 2018: Clinical Genetics
Lingling Zhu, Limei Xie
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling...
December 2017: Medicine (Baltimore)
Navid Hakim, Cristina Soare, Jamil Hakim
Walker-Warburg syndrome (WWS) is a disorder characterized by ocular and brain malformations, and congenital muscular dystrophy. Retinal malformations are common in WWS; however, bilateral retinal detachment is a rare occurrence. We present a case of a newborn baby delivered at 36+3 weeks, who was the first living child of consanguineous parents of Turkish origin. On antenatal anomaly scans, the fetus had hydrocephalus that had increased throughout pregnancy, and a diagnosis of hydrancephaly was made at 36 weeks of gestation...
2018: International Medical Case Reports Journal
Racha Khalaf, Carmen Cuffari
Androgen therapy has proven efficacy in treating patients with bone marrow failure who are not candidates for bone marrow transplantation. Herein, we report on a case of colonic angioectasia secondary to oxymetholone use in an adolescent patient with Hoyeraal-Hreidarsson syndrome (HHS). A 13-year-old Caucasian male with HHS characterized by cerebellar hypoplasia, developmental delay, microcephaly, esophageal strictures and myelodysplasia presented with severe hematochezia from colonic angioectasia secondary to long-term oxymetholone therapy...
January 2018: Pediatric Gastroenterology, Hepatology & Nutrition
Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth
Objective: To ascertain the genetic and functional basis of complex autosomal recessive cerebellar ataxia (ARCA) presented by 2 siblings of a consanguineous family characterized by motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, and slow ocular saccades. Methods: Combined whole-genome linkage analysis, whole-exome sequencing, and focused screening for identification of potential causative genes were performed. Assessment of the functional consequences of the mutation on protein function via subcellular fractionation, size-exclusion chromatography, and fluorescence microscopy were done...
February 2018: Neurology. Genetics
Leila Chimelli, Sheila Moura Pone, Elyzabeth Avvad-Portari, Zilton Farias Meira Vasconcelos, Andrea Araújo Zin, Daniela Prado Cunha, Nathalia Raposo Thompson, Maria Elisabeth Lopes Moreira, Clayton A Wiley, Marcos Vinicius da Silva Pone
During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia...
March 1, 2018: Journal of Neuropathology and Experimental Neurology
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M van Hasselt, Michaël Wiederkehr, Caroline F Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S Alkuraya, Alexandre Reymond
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract...
December 27, 2017: American Journal of Human Genetics
Stephanie C DeLuca, Dory A Wallace, Mary Rebekah Trucks, Konark Mukherjee
OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments...
December 19, 2017: BMC Research Notes
Tadashi Shiohama, Ryo Ando, Katsunori Fujii, Hiroki Mukai, Yuki Naruke, Katsuo Sugita, Eiji Kato, Naoki Shimojo
Dandy-Walker malformation (DWM) is a posterior fossa anomaly characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. The cyst of DWM rarely extends posteriorly to almost completely fill the entire posterior fossa, which mimics primary cerebellar agenesis, a cerebellar porencephalic cyst, and an arachnoid cyst due to the lack of clarity of the thin cystic wall. A 10-month-old female born at 23 weeks' gestation with cerebellar hemorrhage in the neonatal period was admitted to our hospital with dysphagia and side-to-side head bobbing...
2017: Case Reports in Pediatrics
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