a case of gm2 gangliosidosis is reported : the diagnosis has been made by clinical findings showing macular cherry-red spot and a progressive neurologic symptomatology with epilepsy , by electron microscopic observation in conjunctival fibroblasts of numerous vacuoles ( `` '' zebra bodies '' '' ) and by absence of total hexosaminidase activity in leukocytes .
C0011900
diagnosis
C0037088
clinical findings