Late infantile neuronal ceroid lipofuscinosis

Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.

Psychomotor deterioration

Loss of previously present mental and motor abilities.


Total: 2

                       


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PMID (PMCID)
16759889
 MIXED_SAMPLE Child
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.
Bonsignore M, Tessa A, Di Rosa G, Piemonte F, Dionisi-Vici C, Simonati A, Calamoneri F, Tortorella G, Santorelli FM.
Eur J Paediatr Neurol. 2006;10(3):154-6.
The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset visual loss, psychomotor deterioration, and seizures.
12728477
 MALE Child
A case of late infantile neuronal ceroid lipofuscinosis.
Lee CW, Bang H, Oh YG, Yun HS, Kim JD, Coe CJ.
Yonsei Med J. 2003;44(2):331-5.
We experienced a case of late infantile neuronal ceroid lipofuscinosis in a 6-year-old boy who had progressive myoclonic seizures, ataxia, rapid psychomotor deterioration and visual loss.