GBA-sEDD
Previously: Gaucher disease type 2
Key Clinical Clues
Collodion membrane or generalized scaling at birth; primary CNS disease with death usually in infancy.
Additional Cutaneous Features
Scaling is typically transient; ectropion may be present.
Additional Extracutaneous Features
Nonimmune hydrops fetalis, respiratory distress (lung hypoplasia), thrombocytopenia, apnoea, myoclonic seizures, hepatosplenomegaly, akinesia/joint contractures, arthrogryposis; cataracts/cardiomyopathy (type 3); neurological deterioration leads to death by infancy (type 2) or childhood (type 3).
Treatment
Enzyme replacement therapy with β-glucocerebrosidase (Ono, 2001).
References
Sidransky E, Fartasch M, Lee RE et al. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res 1996; 39:134-41. || Daykin EC, Ryan E, Sidransky E. Diagnosing neuronopathic Gaucher disease: new considerations and challenges in assigning Gaucher phenotypes. Mol Genet Metab 2021; 132:49-58.
Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer
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