Type II or infantile neuronopathic Gaucher's disease is not common and is seen in all ethnic groups. Early in infancy, severe neurologic signs including difficulty swallowing, arching of back, and other manifestations of brain stem involvement are seen. The spleen and liver are usually enlarged as well. The infant typically has difficulty with feeding and fails to grow. Death occurs before age two.
Death usually occurs in adolescence.
The patient in this case had no neurologic dysfunction and thus was diagnosed with Type I Gaucher's disease.