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A 24-year-old second gravida was admitted at 17.3 weeks for MTP. She underwent a chorion villus sampling (CVS) at 13 weeks of gestation which revealed a fetus with normal karyotype but lysosomal enzyme assay revealed marked deficiency of betagalactosidase consistent with I-cell disease. MTP was done. The fetus weighed 200 gm with no gross anomalies.

A Case of Mucopolysaccharidosis II /I-Cell Disease