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Case Reports in PediatricsVolume 2011 2011, Article ID 564868, 4 pages

Case Report

Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad 380015, India

Opp. Sanghvi High School, Naranpura, Ahmedabad 380014, India

Usha Deep Children Neurology and Epilepsy Clinic, 3rd Floor, Mansarovar Complex, Naranpura, Ahmedabad 380014, India

Received 13 July 2011; Accepted 8 August 2011

Academic Editors: D. Fischer and A. Gedalia

Copyright © 2011 J. J. Sheth et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.





Autor: J. J. Sheth, C. M. Ankleshwaria, M. A. Mistri, N. Nanavaty, and S. J. Mehta

Fuente: https://www.hindawi.com/



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