Diagnosis of the disease usually is made by age 24 months as indicated by an enlarged liver, enlarged spleen, enlarged tongue, course facial features, prominent forehead, joint stiffness, and skeletal deformities. Lymphocytes in the blood smears may be examined for abnormal cytoplasmic inclusions. Urinary levels of the mucopolysaccharides dermatan sulfate and heparan sulfate are increased. Prenatal diagnosis of the enzyme level also may be made in amniotic cells and chorionic villi cells. X-rays of the skeleton and especially the spine may be useful for detecting a gibbus deformity of the lower spine.
Echocardiograms are useful for determining the nature of cardiac complications.
Corrective surgery may be necessary in cases with severe joint contractures and other skeletal deformities. Corneal transplants may be required. Refer patients to medical geneticists for genetic diagnosis and genetic counseling. Emery and Rimoin's Principles and Practice of Medical Genetics. Jablonski's Dictionary of Syndromes and Eponymic Diseases.