The juvenile form, type II, has a later onset with psychomotor deterioration, seizures and skeletal changes apparent between 7 and 36 months and death in childhood. Visceral involvement and cherry-red spots are usually not present. [disorders.eyes.arizona.edu]

Affected infants will have corneal clouding and the presence of macular pallor (the cherry-red spot) in the eye typical of that seen in Tay-Sachs disease, another lysosomal storage disease. [themedicalbiochemistrypage.org]

Hepatomegaly, coarse facial features, brachydactyly, and cardiomyopathy with valvular dysfunction are common. Dermal melanocytosis has also been described in infants in a pattern some have called Mongolian spots. [disorders.eyes.arizona.edu]

Skeletal abnormalities: Lumbar gibbus deformity and kyphoscoliosis, Dysostosis multiplex, Broad hands and feet, Brachydactyly, Joint contractures, Prominent dermal melanocytosis [ 14 - 17 ]. [omicsonline.org]

Decreased acuity, nystagmus, strabismus and retinal hemorrhages have been described. Systemic Features: Infants with type I disease are usually hypotonic from birth but develop spasticity, psychomotor retardation, and hyperreflexia within 6 months. [disorders.eyes.arizona.edu]

At 8 years, he had a generalized seizure. Findings of the physical examination were normal with no dysmorphic features or hepatosplenomegaly. [ajnr.org]

The additional finding of the abnormal eosinophilic granulation is characteristic of GM1 gangliosidosis specifically. [ashpublications.org]