Clinical manifestation

Onset in early childhood; organs most involved: the bone, the viscera, the connective tissue, and the brain; lichenified, dry, thick skin with diminished elasticity; increased pigmentation on the dorsum of the hands; sclerodermalike changes; hypertrichosis of the extremities; pale colored hair; neurologic symptoms: hypertensive hydrocephalus syndrome, changes in the tonus of the musculature and the tendon reflex, and damage of the cranial nerves; myxedema in patients with associated hypothyroidism; dwarfism; hepat-osplenomegaly; cardiovascular involvement; progressive deterioration of intellect after a period of apparently normal development; speech disturbances; ocular symptoms: progressive clouding of the cornea, megalocornea, hereditary glaucoma, and congestion and atrophy of the optic disc; death often occurs before age 10 years from progressive neurologic and cardiovascular deterioration

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