Gaucher’s Disease: Prenatal and Post Natal Diagnostic Dilemma and Elucidating Case Series

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. The 3 clinical subtypes vary widely in their
presentation. Moreover the presentation is not specific and mimics several other common and rare
conditions. Having a child with GD poses severe psychological burden on the affected child and its
family due to the associated morbidity and mortality. Appropriate prenatal diagnostic tests can provide
sufficient information to prospective parents to take informed decisions. Case series and Literature
Review is presented together with an objective to emphasize that a rare disease like GD can have
bad prognosis and that prenatal diagnostics can help in the diagnosis of the disease during
intrauterine life, to facilitate making a timely decision. It also highlights the importance of genetic
counseling to avoid dismal outcomes. The case series also throw light on the challenges that GD
presents in post natal life.