Intracranial Calcifications in Young Children

被引：2
作者：
Dugan, Sarah L. [1 ]
Botto, Lorenzo D. [1 ]
Hedlund, Gary L. [2 ,3 ]
Bale, James F., Jr. [4 ]
机构：
[1] Univ Utah, Sch Med, Div Med Genet, Salt Lake City, UT USA
[2] Univ Utah, Sch Med, Dept Radiol, Salt Lake City, UT USA
[3] Univ Utah, Sch Med, Dept Med Imaging, Primary Childrens Hosp, Salt Lake City, UT USA
[4] Univ Utah, Sch Med, Div Pediat Neurol, Salt Lake City, UT USA
来源：
SEMINARS IN PEDIATRIC NEUROLOGY | 2018年 / 26卷
关键词：
AICARDI-GOUTIERES-SYNDROME; DOCK6; MUTATIONS; CHOROID-PLEXUS; BASAL GANGLIA; BRAIN;
D O I：
10.1016/j.spen.2017.03.022
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe 2 children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic disorders, Adams-Oliver syndrome and Aicardi-Goutieres syndrome. Differentiating genetic conditions from intrauterine infections or other causes of intracranial calcifications enables practitioners to provide accurate counseling regarding prognosis and recurrence risk. (C) 2017 Published by Elsevier Inc.
引用
收藏
页码：135 / 139
页数：5
相关论文
共 19 条
  • [1] A PROGRESSIVE FAMILIAL ENCEPHALOPATHY IN INFANCY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS
    AICARDI, J
    GOUTIERES, F
    [J]. ANNALS OF NEUROLOGY, 1984, 15 (01) : 49 - 54
  • [2] Anna Lehman, 1993, GENE REV
  • [3] Fetal Infections and Brain Development
    Bale, James F., Jr.
    [J]. CLINICS IN PERINATOLOGY, 2009, 36 (03) : 639 - +
  • [4] Barkovich A.J., 2012, PEDIAT NEUROIMAGING
  • [5] Aicardi-Goutieres syndrome: a genetic microangiopathy?
    Barth, PG
    Walter, A
    van Gelderen, I
    [J]. ACTA NEUROPATHOLOGICA, 1999, 98 (02) : 212 - 216
  • [6] Batla A, 2016, MOVEMENT DISORD, V31, P1765, DOI 10.1002/mds.26873
  • [7] Belman AL, 1997, NEUROIMAG CLIN N AM, V7, P593
  • [8] Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
    Crow, Yanick J.
    Leitch, Andrea
    Hayward, Bruce E.
    Garner, Anna
    Parmar, Rekha
    Griffith, Elen
    Ali, Manir
    Semple, Colin
    Aicardi, Jean
    Babul-Hirji, Riyana
    Baumann, Clarisse
    Baxter, Peter
    Bertini, Enrico
    Chandler, Kate E.
    Chitayat, David
    Cau, Daniel
    Dery, Catherine
    Fazzi, Elisa
    Goizet, Cyril
    King, Mary D.
    Klepper, Joerg
    Lacombe, Didier
    Lanzi, Giovanni
    Lyall, Hermione
    Martinez-Frias, Maria Luisa
    Mathieu, Michele
    McKeown, Carole
    Monier, Anne
    Oade, Yvette
    Quarrell, Oliver W.
    Rittey, Christopher D.
    Rogers, R. Curtis
    Sanchis, Amparo
    Stephenson, John B. P.
    Tacke, Uta
    Till, Marianne
    Tolmie, John L.
    Tomlin, Pam
    Voit, Thomas
    Weschke, Bernhard
    Woods, C. Geoffrey
    Lebon, Pierre
    Bonthron, David T.
    Ponting, Chris P.
    Jackson, Andrew P.
    [J]. NATURE GENETICS, 2006, 38 (08) : 910 - 916
  • [9] Crow YJ, 1993, GENE REV
  • [10] Physiologic calcification of the pineal gland in children on computed tomography: Prevalence, observer reliability and association with choroid plexus calcification
    Doyle, AJ
    Anderson, GD
    [J]. ACADEMIC RADIOLOGY, 2006, 13 (07) : 822 - 826
12