Ceroid lipofuscinosis    228

General: Ceroid lipofuscinoses are disorders characterized by the accumulation of fluorescent lipopigments in a number of body tissues; included in this group are several diseases that were once considered variants of Tay-Sachs disease but are now classified separately; ceroid lipofuscinoses may be divided into infantile, late infantile (Bielschowsky-Jansky), juvenile (Spielmeyer- Vogt), adult (Kufs), and atypical forms (see Dollinger-Bielschowsky Syndrome; Kufs Disease; Infantile Neuronal Ceroid Lipofuscinosis; Batten-Mayou syndrome.)

Ocular: Tapetoretinal degeneration; pigmentary macular changes.

Clinical: Seizures; ataxia; dementia; cerebellar and extrapyramidal signs; 'release' hallucinations.

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Lake BD, Henderson DC, Oakhill A, et al. Bone marrow transtation in Batten disease (neuronal ceroid lipofuscinosis). Will it work? Preliminary studies on coculture experiments and on bone marrow transt in late infantile Batten disease. Am J Med Genet 1995; 57:369-373.

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