{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:59:48Z","timestamp":1753887588129,"version":"3.41.2"},"reference-count":25,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,1]]},"abstract":"<jats:p>An 11-week-old unvaccinated, term Amish boy initially presented with poor feeding, microcephaly, failure to thrive, and developmental delays. His physical examination was significant for both weight and head circumference being less than the third percentile, and he was noted to have micrognathia, truncal hypotonia, and head lag. He was admitted to the pediatric hospital medicine service for further diagnostic evaluation. Laboratory studies assessing for endocrinological and metabolic etiologies yielded negative results, and imaging studies (including a chest radiograph, echocardiogram, and abdominal ultrasound) were normal. However, intracranial calcifications were noted on a head ultrasound. The etiology of his constellation of symptoms was initially thought to be infectious, but the ultimate diagnosis was not made until after discharge from the pediatric hospital medicine service.<\/jats:p>","DOI":"10.1542\/peds.2019-2795","type":"journal-article","created":{"date-parts":[[2020,8,20]],"date-time":"2020-08-20T12:26:21Z","timestamp":1597926381000},"source":"Crossref","is-referenced-by-count":0,"title":["Microcephaly, Hypotonia, and Intracranial Calcifications in an 11-Week-Old Boy"],"prefix":"10.1542","volume":"146","author":[{"given":"Inga","family":"Aikman","sequence":"first","affiliation":[{"name":"Akron Children\u2019s Hospital, Akron, Ohio;"},{"name":"Division of Critical Care and Hospital Medicine, Department of Pediatrics, Brody School of Medicine, East Carolina University, Greenville, North Carolina; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen","family":"Makowski","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital, Akron, Ohio;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivia","family":"Wenger","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital, Akron, Ohio;"},{"name":"New Leaf Center, Mount Eaton, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"Rossman","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital, Akron, Ohio;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey D.","family":"Solomon","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital, Akron, Ohio;"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2020,9,1]]},"reference":[{"issue":"11","key":"2021121013064008600_B1","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/j.earlhumdev.2011.08.021","article-title":"Evidence based management guidelines for the detection and treatment of congenital CMV","volume":"87","author":"Kadambari","year":"2011","journal-title":"Early Hum Dev"},{"key":"2021121013064008600_B2","doi-asserted-by":"crossref","first-page":"S30","DOI":"10.1093\/jpids\/piu077","article-title":"Congenital toxoplasmosis","volume":"3","author":"McAuley","year":"2014","journal-title":"J Pediatric Infect Dis Soc"},{"key":"2021121013064008600_B3","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.spen.2017.03.022","article-title":"Intracranial calcifications in young children","volume":"26","author":"Dugan","year":"2018","journal-title":"Semin Pediatr Neurol"},{"issue":"3","key":"2021121013064008600_B4","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1093\/clinids\/20.3.665","article-title":"Surveillance for congenital cytomegalovirus disease: a report from the National Congenital Cytomegalovirus Disease Registry","volume":"20","author":"Istas","year":"1995","journal-title":"Clin Infect Dis"},{"issue":"2","key":"2021121013064008600_B5","doi-asserted-by":"crossref","first-page":"e20163860","DOI":"10.1542\/peds.2016-3860","article-title":"Diagnosis, treatment, and prevention of congenital toxoplasmosis in the United States","volume":"139","author":"Maldonado","year":"2017","journal-title":"Pediatrics"},{"issue":"7","key":"2021121013064008600_B6","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1111\/dmcn.12359","article-title":"Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes","volume":"56","author":"Livingston","year":"2014","journal-title":"Dev Med Child Neurol"},{"issue":"2","key":"2021121013064008600_B7","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1055\/s-2004-815833","article-title":"The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection","volume":"35","author":"de Vries","year":"2004","journal-title":"Neuropediatrics"},{"issue":"1","key":"2021121013064008600_B8","doi-asserted-by":"crossref","first-page":"9","DOI":"10.3174\/ajnr.A0786","article-title":"Susceptibility-weighted MR imaging: a review of clinical applications in children","volume":"29","author":"Tong","year":"2008","journal-title":"AJNR Am J Neuroradiol"},{"issue":"3","key":"2021121013064008600_B9","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1002\/jmri.24410","article-title":"Susceptibility-weighted imaging in pediatric neuroimaging","volume":"40","author":"Bosemani","year":"2014","journal-title":"J Magn Reson Imaging"},{"issue":"6","key":"2021121013064008600_B10","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1055\/s-0036-1592307","article-title":"Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Gouti\u00e8res syndrome and beyond","volume":"47","author":"Livingston","year":"2016","journal-title":"Neuropediatrics"},{"issue":"13","key":"2021121013064008600_B11","doi-asserted-by":"crossref","first-page":"5372","DOI":"10.1073\/pnas.1014265108","article-title":"Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke","volume":"108","author":"Xin","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"2021121013064008600_B12","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1186\/s13023-018-0854-y","article-title":"Encephalopathies with intracranial calcification in children: clinical and genetic characterization","volume":"13","author":"Tonduti","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"2021121013064008600_B13","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.2105\/AJPH.2011.300569","article-title":"One community\u2019s effort to control genetic disease","volume":"102","author":"Strauss","year":"2012","journal-title":"Am J Public Health"},{"issue":"6","key":"2021121013064008600_B14","doi-asserted-by":"crossref","first-page":"558","DOI":"10.7861\/clinmedicine.17-6-558","article-title":"A clinical approach to developmental delay and intellectual disability","volume":"17","author":"Vasudevan","year":"2017","journal-title":"Clin Med (Lond)"},{"issue":"5","key":"2021121013064008600_B15","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2012-0568","article-title":"Clinical utility of chromosomal microarray analysis","volume":"130","author":"Ellison","year":"2012","journal-title":"Pediatrics"},{"issue":"3","key":"2021121013064008600_B16","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/cge.12654","article-title":"Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care","volume":"89","author":"Sawyer","year":"2016","journal-title":"Clin Genet"},{"issue":"1","key":"2021121013064008600_B17","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1093\/bmb\/ldn049","article-title":"Aicardi-Goutieres syndrome. [published correction appears in Br Med Bull. 2009;89(1):1\u20136","volume":"89","author":"Orcesi","year":"2009","journal-title":"Br Med Bull"},{"key":"2021121013064008600_B18","unstructured":"US National Library of Medicine. Aicardi-Gouti\u00e8res syndrome. Available at: https:\/\/ghr.nlm.nih.gov\/condition\/aicardi-goutieres-syndrome. Accessed October 31, 2018"},{"issue":"3","key":"2021121013064008600_B19","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.braindev.2003.12.011","article-title":"Aicardi-Gouti\u00e8res syndrome","volume":"27","author":"Gouti\u00e8res","year":"2005","journal-title":"Brain Dev"},{"key":"2021121013064008600_B20","doi-asserted-by":"crossref","first-page":"A9","DOI":"10.1053\/ejpn.2002.0568","article-title":"Aicardi-Gouti\u00e8res syndrome: a description of 21 new cases and a comparison with the literature","volume":"6","author":"Lanzi","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"issue":"6","key":"2021121013064008600_B21","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1111\/j.1469-8749.2008.02062.x","article-title":"Aicardi-Gouti\u00e8res syndrome: an important Mendelian mimic of congenital infection","volume":"50","author":"Crow","year":"2008","journal-title":"Dev Med Child Neurol"},{"issue":"3","key":"2021121013064008600_B22","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/ajmg.a.30250","article-title":"Congenital glaucoma and brain stem atrophy as features of Aicardi-Gouti\u00e8res syndrome","volume":"129A","author":"Crow","year":"2004","journal-title":"Am J Med Genet A"},{"key":"2021121013064008600_B23","unstructured":"US National Library of Medicine. Aicardi syndrome. Available at: https:\/\/ghr.nlm.nih.gov\/condition\/aicardi-syndrome. Accessed January 15, 2020"},{"key":"2021121013064008600_B24","unstructured":"Crow\u2008YJ\n          . Aicardi-Gouti\u00e8res syndrome. In: Adam\u2008MP, Ardinger\u2008HH, Pagon\u2008RA, eds. GeneReviews [Internet]. Seattle, WA: University of Washington; 2016. Available at: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1475\/. Accessed April 26, 2018"},{"issue":"6","key":"2021121013064008600_B25","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1007\/s10067-017-3600-2","article-title":"Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation","volume":"36","author":"Henrickson","year":"2017","journal-title":"Clin Rheumatol"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/doi\/10.1542\/peds.2019-2795\/1080133\/peds_20192795.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/doi\/10.1542\/peds.2019-2795\/1080133\/peds_20192795.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T01:48:24Z","timestamp":1639187304000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/146\/3\/e20192795\/36671\/Microcephaly-Hypotonia-and-Intracranial"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,1]]},"references-count":25,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,9,1]]},"published-print":{"date-parts":[[2020,9,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2019-2795","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"type":"print","value":"0031-4005"},{"type":"electronic","value":"1098-4275"}],"subject":[],"published":{"date-parts":[[2020,9,1]]},"article-number":"e20192795"}}