Congenital infection-like syndrome with intracranial calcification.
Brain Dev
; 33(6): 530-3, 2011 Jun.
Article
em En
| MEDLINE
| ID: mdl-20926212
ABSTRACT
Congenital infection-like syndrome includes multiple disorders. Although novel syndromes have recently been described and their genetic defects identified, many cases remain unclassified. Here we report a patient with neuroradiologic findings of intracranial calcification and cerebellar hypoplasia, and clinical features of growth retardation, progressive pancytopenia, interstitial pneumonia, and immune abnormality. Our patient had a phenotypic overlap with Aicardi-Goutières syndrome and Hoyeraal-Hreidarsson syndrome, despite the absence of mutation in their responsible genes.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Calcinose
/
Córtex Cerebral
/
Infecções
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
2011
Tipo de documento:
Article