Infantile type of neuronal ceroid lipofuscinosis (ceroid lipofuscinosis; hagberg-santavuori syndrome; haltia-santavuori syndrome; santavuori-haltia syndrome)

General: Age of onset 8 to 18 months; autosomal recessive; widespread loss of photoreceptor function; cerebral deterioration; death occurs at age 5 to 9 years (see Ceroid Lipofuscinosis).

Ocular: Visual failure simultaneously with or before neurologic signs; blindness; brownish macula and other signs of macular degeneration with narrow retinal vessels; atrophic optic disk; hypopigmented dystrophic peripheral retina without pigments; nystagmus; exotropia; formed and unformed visual hallucinations.

Clinical: Psychomotor deterioration; generalized muscular hypotonia; ataxia; myoclonic jerks; 'knitting' hyperkinesia; and microcephaly; convulsions rare.

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Berson EL. Retinitis pigmentosa and allied diseases. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. II. Philadelphia: WB Saunders, 1994:548.

Brod RD, et al. Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes. Arch Ophthalmol 1987; 105:1388-l393.

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Lanska DJ, Lanska MJ. Visual 'release' hallucinations in Juvenile neuronal ceroid-lipofuscinosis. Pediatr Neurol 1993; 9:316-317.