Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis
Vol. 8 No. 2 (2019), Articles
Vol. 8 No. 2 (2019)

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

Articles
https://doi.org/10.7363/080211
Published 2019-07-30
Kubra Baskin
Department of Pediatrics, Division of Pediatric Allergy and Immunology, Ankara University Faculty of Medicine, Ankara, Turkey
Eser Aynaci
Department of Pediatrics, Division of Pediatric Neurology, Mersin State Hospital, Mersin, Turkey
Ozge Onay Surmeli
Department of Pediatrics, Division of Neonatology, Osmangazi University Faculty of Medicine, Eskisehir, Turkey
M. Munevver Bas
Department of Pediatrics, Division of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey
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Keywords

Gaucher disease
congenital ichthyosis
β-glucocerebrosidase

How to Cite

Baskin, K., Aynaci, E., Onay Surmeli, O., & Bas, M. M. (2019). Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis. Journal of Pediatric and Neonatal Individualized Medicine (JPNIM), 8(2), e080211. https://doi.org/10.7363/080211
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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 β-glucocerebrosidase gene. We would like to focus the attention on the fact that perinatal-lethal GD can be the underlying cause of congenital ichthyosis.
https://doi.org/10.7363/080211
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