The clinical phenotypes combine the milder
features of late infantile metachromic leukodystrophy and of
mucopolysaccharidosis. Typically, patients have an initial period of normal
development followed by the onset of motor and mental difficulty during the
first or second year of life. In the later stage, most patients have
developmental delay, coarse facial features (“gargoylism”), ichthyosis,
hepatosplenomegaly, and skeletal abnormalities. Neurologic deterioration
usually is rapid. Other reported features include seizure, deafness,
hydrocephalus, chondrodysplasia calcificans, and abnormal fold of tissue
between laryngeal and esophageal inlet in one case. Hemophagocytic syndrome
of fever, pancytopenia, coagulopathy, liver dysfunction, and proliferation
of mature histiocytes was reported in one patient.