Clinical Manifestations and Mortality

E. H. Kolodny (1979) gives a concise outline of the symptoms and course of TSD. Between birth and age 6 months, the affected child may begin displaying apathy, hypotonia, and an exaggerated startle reaction to noise. Between 6 and 12 months of age, the characteristic cherry-red spot in the eye becomes evident, and the child also displays psychomotor retardation, spasticity, and rigidity. From 12 to 18 months of age, the child may have excessive drooling, bouts of unmotivated laughter, and convulsions. Between 18 and 24 months, megacephaly, cortical blindness, and quadriplegia commonly occur. After age 2 years, the child is in a vegetative state, and most affected children die sometime during the next 2 years. Until then their condition steadily worsens, with flexor contractures, episodes of autonomic dysfunction, neurogenic bladder, and skin yellowing being common signs.

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