A man of Ashkenazi Jewish background presents with fatigue and hip pain. Examination reveals hepatosplenomegaly. What is the diagnosis?
1.Tay sachs disease
2.Gauchers disease
3.Niemann pick disease
4.Usher syndrome
5.Familial dysautonomia
Ans:2.Gauchers disease
explanation
Gauchers disease is a lysosomal storage disease that is autosomal recessive and is more common in Askenazi Jews. It is a defect in the glucocerebrosidase enzyme that normally breaks down lipids in blood cell membranes and waste lipid builds up. The characteristic symptoms are hepatosplenomegally, bone pain particularly in the hip and legs, symptoms of pancytopenia and osteoporosis. Severe cases can cause seizures and other neurological signs. Tay Sachs is also a common autosomal recessive condition in this population which causes progressive neurological decline and an early death. Niemann Pick disease is another lysosomal storage disease more prevalent in Askenazi Jews and causes heptaosplenomegally and pancytopenia, however, mental retardation is often profound. Familial dysautonomia is almost exclusive to Ashkenazi Jews, is autosomal recessive and prevents the development of the autonomic nervous system resulting in absence of tears, hypotonia, mental retardation and unstable blood pressure. Usher syndrome causes deafblindness and is more common in Askenazi Jews.