ArticleCase reports in pediatrics2011
Splenomegaly, cardiomegaly, and osteoporosis in a child with Gaucher disease.
Article in Case reports in pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Lysosomal storage disorders: from biology to the clinic with reference to India.The Lancet regional health. Southeast Asia · 2023Review
- Jaw bones' involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2020Article
- Type 1 and type 3 Gaucher disease in two siblings in a family: 2 unusual case reports.Journal of clinical and diagnostic research : JCDR · 2015Article
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Authors and funding
5 authors.
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Abstract
A 15-month-old girl, born to the consanguineous parents, was referred with the sign of massive splenomegaly associated with thrombocytopenia and anemia. Plasma Chitotriosidase estimation was carried out as a screening test and was found to be normal with reduced activity of β-glucosidase in leucocytes suggestive of Gaucher disease. At the age of 4 years, severe osteoporosis and cardiomegaly with pulmonary congestion were observed in the child. Molecular analysis for GBA gene has revealed homozygous status for L444P (c.1448C) in the proband, whereas parents and two elder sisters were found to be heterozygote. Prenatal study during the fourth pregnancy was carried out from cultured chorionic villi for β-glucosidase, which was in the carrier range. Further confirmation of the carrier status was carried out from amniotic fluid DNA and was found to be heterozygous for L444P (c.1448C) in the GBA gene. This case demonstrates that children with the sign of splenomegaly with anemia and thrombocytopenia need to be screened for Gaucher disease, and molecular study can further help to confirm the heterozygous status, where prenatal study by enzyme investigation demonstrate heterozygous condition.
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