Infantile form: Symptoms appear shortly after birth and include hypotonia, slow psychomotor
development, failure to thrive, feeding
difficulty, startle reaction to sounds, and hepatosplenomegaly. Coarse facies with
macrocephaly, frontal bossing, full cheeks, and mandibular prognathism. Puffy eyelids,
cherry-red macular spots in 50% of patients and occasional corneal opacity.
Depressed nasal bridge and prominent philtrum. Macroglossia and enlarged
alveolar process. Wide ribs. Hypoplastic ilia and pelvic trabeculation.
Short and stubby hands with bullet-shaped phalanges. Flexion contractures of
joints and faulty tubulation of long bones. Kyphoscoliosis and short
vertebrae in their anteroposterior diameter with convex endplates and
hook-like deformities at the thoracolumbar junctions. Cardiomyopathy and
paroxysmal supraventricular tachycardia have been described. Severe cerebral
degeneration follows, with death in the first 2 years of life, usually as a
result of bronchopneumonia. Affected infants often are blind, deaf, and