Perinatal lethal Gaucher disease: A case report and review of literature.
Brain Dev
; 45(2): 134-139, 2023 Feb.
Article
em En
| MEDLINE
| ID: mdl-36220738
ABSTRACT
Perinatal lethal Gaucher disease is a very rare variant of type 2 Gaucher disease that occurs in the neonatal period and leads to death in early infancy. The disease is characterized by hydrops fetalis or a collodion baby phenotype accompanied with progressive neurological manifestations, hepatosplenomegaly, thrombocytopenia, anemia, and failure to thrive. We report a case of perinatal lethal Gaucher disease treated with enzyme replacement therapy (ERT) who survived for 9 months and present a literature review of perinatal lethal Gaucher disease cases. The prognosis of perinatal lethal Gaucher disease is poor, and ERT is only effective in visceral manifestation. Therefore, palliative care should be recognized as a treatment option, and ERT employment needs to be discussed in this context.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Gaucher
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article