Microcephaly, Hypotonia, and Intracranial Calcifications in an 11-Week-Old Boy.
Journal
Pediatrics
ISSN: 1098-4275
Titre abrégé: Pediatrics
Pays: United States
ID NLM: 0376422
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
accepted:
25
06
2020
pubmed:
21
8
2020
medline:
2
10
2020
entrez:
22
8
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32820067
pii: peds.2019-2795
doi: 10.1542/peds.2019-2795
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2020 by the American Academy of Pediatrics.
Déclaration de conflit d'intérêts
POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.