Gaucher’s Disease: Prenatal and Post Natal Diagnostic Dilemma and Biochemical Aid - Case Series and Review of Literature

Background: Gaucher’s Disease (GD) is a rare genetically inherited, autosomal recessive disorder. It is classified as a lysosomal storage disorder and is characterized by the accumulation of glycolipids. This is due to the deficiency of lysosomal hydrolase β – glucocerebrosidase. The gene responsible for synthesizing this enzyme is encoded by GBA1 on chromosome 1q21.

Case Series: We present a case series of a Gravida-5 Para-3 Live-1 Death-2 Abortion-1 (G5P3L1D2A1) patient, with 19 weeks amenorrhea with prenatal diagnosis suggestive of GD clinically being planned for termination. The past obstetrics history is as follow; First pregnancy – full-term normal vaginal delivery (FTNVD) with male baby diagnosed as type 2 GD at 8 months after birth and died at 9 months 14 days; Second pregnancy – FTNVD with female baby presently 3 years 6 months and healthy and enzymatic assay and mutational analysis for GD negative; Third pregnancy – full-term lower segment cesarean section (FTLSCS) with male baby diagnosed as type 2 GD at 7 months after birth and died at 1 year 8 days; Fourth pregnancy – chorionic villus sampling (CVS) done at 12 weeks and enzymatic assay positive for GD and terminated at 17 weeks.

Conclusions: We report a case of a lady presenting with two children diagnosed with type 2 GD after birth who died within a year of birth. Another two pregnancies diagnosed prenatally with GD and terminated and one healthy live child. Case series and Literature Review is presented together with an objective to emphasize that a rare disease like GD can have bad infant prognosis and that prenatal diagnostics can help in the diagnosis of the disease in intrauterine life, to facilitate making a timely decision. It also highlights the importance of genetic counseling to avoid dismal outcomes.