Question

A 9-month-old infant girl presents with neurological disorders, seizures, hepatomegaly, splenomegaly, strabismus, and failure to thrive. A test of peripheral leukocytes reveals a deficiency of glucocerebrosidase enzyme. What is the most likely diagnosis and treatment?

a) Tay-Sachs disease; Supportive care
b) Niemann-Pick disease; Enzyme replacement therapy
c) Hunter syndrome; Bone marrow transplant
d) Gaucher disease; Enzyme replacement therapy

Answer 1

The likely diagnosis for the symptoms described is Gaucher disease, and the treatment is enzyme replacement therapy. This condition involves a deficiency of the glucocerebrosidase enzyme.

Step-by-step explanation:

The most likely diagnosis for a 9-month-old infant girl exhibiting neurological disorders, seizures, hepatomegaly, splenomegaly, strabismus, failure to thrive, and a deficiency of glucocerebrosidase enzyme from a peripheral leukocytes test, is Gaucher disease. The appropriate treatment for Gaucher disease is enzyme replacement therapy. Gaucher disease is a genetic lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in various organs, particularly the spleen, liver, and bone marrow, which accounts for the clinical presentation of the infant. While other disorders like Tay-Sachs disease, Niemann-Pick disease, and Hunter syndrome also involve enzyme deficiencies leading to neurological symptoms, the enzyme specifically deficient in Gaucher disease is glucocerebrosidase, which is crucial for the diagnosis and subsequent treatment.