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.

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.

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PMID (PMCID)
31105743	OTHER
	Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis.
	Ren XT, Wang XH, Ding CH, Shen X, Zhang H, Zhang WH, Li JW, Ren CH, Fang F. Front Genet. 2019;10:370.
	We studied 4 late-infantile NCL siblings characterized by seizures, ataxia as early symptoms, followed by progressive regression in intelligence and behavior, but mutations are located in different genes.
27343025	FEMALE
	Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: AnAtypical Presentation.
	Saini AG, Sankhyan N, Singhi P. Pediatr Neurol. 2016;60:75-8.
	Classic late-infantile neuronal ceroid lipofuscinosis is characterized by progressive intellectual and motor deterioration, seizures, vision loss, and early death.
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.
11782333	FEMALE
	Anesthetic management for a patient with Jansky-Bielschowsky disease.
	Yamada Y, Doi K, Sakura S, Saito Y. Can J Anaesth. 2002;49(1):81-3.
	To describe the anesthetic management of a patient with Jansky-Bielschowsky disease (JBD), the late infantile form of neuronal ceroid lipofuscinosis, characterized by dementia, severe and drug resistant grand mal, myoclonic seizures, and blindness.