CNS Manifestations

CNS Manifestations

Usually develop in the second or third decade but may be seen earlier. These are caused by involvement of the basal ganglia. CNS signs and symptoms include expressionless face, spasticity, dysarthria, drooling, and other extra pyramidal signs. Behavior changes may be present.

Chronic renal disease manifesting as renal rickets and leading to bony deformites and pathological fractures may be seen. Renal involvement with haematuria, Fanconi’s syndrome and tubular destruction may be seen. Acute haemolytic anemia with jaundice is frequently seen.