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KMID : 1101620210320040208
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Perinatology
2021 Volume.32 No. 4 p.208 ~ p.211
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Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report
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Lee Hak-Min
Oh Ji-Young
Han Jung-Ho
Lee Min-Jung
Park Joon-Sik
Baek Seung-Hwan
Yu Ri-Ta
Eun Ho-Seon
Park Min-Soo
Shin Jeong-Eun
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Abstract
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Gaucher disease (GD) is a rare autosomal recessive genetic disease. The symptoms and age of onset vary depending on the subtype. Type 2 GD is potentially lethal, and the mean lifespan is less than 2 years. Due to rapid disease progression, early diagnosis of type 2 GD is important. Here, we present an infant with congenital ichthyosis and rigidity with joint contracture, who later presented with bulbar involvement. Feeding difficulty, apnea, hepatosplenomegaly, and thrombocytopenia were also evident. She was diagnosed with type 2 GD via whole-exome sequencing, which showed 2 pathogenic variants in GBA as a compound heterozygote: Arg296Gln (c.887G>A) and Pro24His (c.719C>A). Congenital ichthyosis with progressive respiratory and neurologic impairment may be key clinical findings for the early diagnosis of type 2 GD.
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KEYWORD
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Gaucher disease, Ichthyosis, Infant, Whole exome sequencing, Case reports
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