Neonatal Jaundice with Splenomegaly: Not a Common Pick.
Fetal Pediatr Pathol
; 35(2): 108-11, 2016.
Article
em En
| MEDLINE
| ID: mdl-26847548
ABSTRACT
The most common conditions causing cholestatic jaundice in infants are biliary atresia, neonatal hepatitis, and Alagille syndrome. In these disorders, the clinical presentation includes jaundice, pale stools, dark urine and hepatomegaly. Splenomegaly is not an early feature since it is due to portal hypertension, a later event. The finding of cholestatic jaundice and a large spleen usually raises the suspicion of Niemann-Pick type C disease (NP-C), a lysosomal storage disorder. We present and discuss here a case of an infant with liver disease and splenomegaly that were not ascribed to NP-C, but to Gaucher disease type 2. Liver biopsy, enzymatic studies and whole exome sequencing allowed to make the diagnosis. Although rare, Gaucher disease can cause neonatal hepatitis. A prompt recognition is advocated.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esplenomegalia
/
Doença de Gaucher
/
Icterícia Neonatal
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Fetal Pediatr Pathol
Assunto da revista:
PATOLOGIA
/
PEDIATRIA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Itália