Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis


Baskin K., Aynaci E., SÜRMELİ ONAY Ö. , Bas M. M.

JOURNAL OF PEDIATRIC AND NEONATAL INDIVIDUALIZED MEDICINE, vol.8, no.2, 2019 (Journal Indexed in ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.7363/080211
  • Title of Journal : JOURNAL OF PEDIATRIC AND NEONATAL INDIVIDUALIZED MEDICINE

Abstract

In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD). GD is a glycolipid storage disease leading to widely variable phenotypes such as hydrops fetalis, congenital ichthyosis, hepatosplenomegaly, thrombocytopenia, anemia, muscular hypotonia, seizures, and respiratory failure. Our patient died due to respiratory failure at 78 days of postnatal age. Molecular genetic tests showed homozygous mutation c.[1505G>A];[1505G>A] of the beta-glucocerebrosidase gene. We would like to focus the attention on the fact that perinatal-lethal GD can be the underlying cause of congenital ichthyosis.