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.

Input patient's signs and symptoms

Narrow down the case reports

Total: 34 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
3 (4.0%)	6276066	[A case of neuronal ceroid-lipofuscinosis (Jansky-Bielshowsky type): morphological, biochemical and electrophysiological studies (author's transl)]. Kira J, Tabira T, Tsuji S, Shibasaki H, Goto I. Rinsho Shinkeigaku. 1981;21(8):706-13. [ Show abstract ] [ Hide abstract ]
		Retinal degeneration


		Ceroid Child Homo sapiens Inclusion Bodies Lipofuscin Lipoidosis Male Myoclonus Pigments, Biological Rectum Retinal Degeneration
3 (4.0%)	6200812	Diagnosis of late infantile neuronal "ceroid-lipofuscinosis" from histochemical and ultrastructural changes in dental pulp. Witkop CJ Jr, Cutler B, Lockman LA. Oral Surg Oral Med Oral Pathol. 1984;57(3):294-9. [ Show abstract ] [ Hide abstract ]
		Seizure


		Child, Preschool Dental Pulp Electron Microscopy Histocytochemistry Homo sapiens Male Myoclonus Neuronal Ceroid-Lipofuscinoses Staining and Labeling
3 (4.0%)	6172569	A dominant form of neuronal ceroid-lipofuscinosis. An ultrastructural study of sural nerve and peripheral lymphocytes. Badurska B, Fidzianska A, Jedrzejowska H. J Neurol. 1981;226(3):205-12. [ Show abstract ] [ Hide abstract ]
		Motor deterioration


		Ceroid Child, Preschool Electron Microscopy Homo sapiens Lipofuscin Lymphocyte Male Microcirculation Pigments, Biological
3 (4.0%)	183637	Late-infantile neuronal ceroid-lipofuscinosis. An ultrastructural study of lymphocyte inclusions. Markesbery WR, Shield LK, Egel RT, Jameson HD. Arch Neurol. 1976;33(9):630-5. [ Show abstract ] [ Hide abstract ]
		Seizure


		Child, Preschool Homo sapiens Inclusion Bodies Lipoidosis Lymphocyte Male

Phenotype(s) retrieved from Orphanet

Total: 12

HPO ID	Term	Frequency
HP:0000478	Abnormality of the eye	Very frequent (99-80%)
HP:0000488	Retinopathy	Very frequent (99-80%)
HP:0000504	Abnormality of vision	Very frequent (99-80%)
HP:0000512	Abnormal electroretinogram	Very frequent (99-80%)
HP:0000649	Abnormality of visual evoked potentials	Very frequent (99-80%)
HP:0001250	Seizures	Very frequent (99-80%)
HP:0001251	Ataxia	Very frequent (99-80%)
HP:0001336	Myoclonus	Very frequent (99-80%)
HP:0002059	Cerebral atrophy	Very frequent (99-80%)
HP:0002353	EEG abnormality	Very frequent (99-80%)
HP:0002376	Developmental regression	Very frequent (99-80%)
HP:0009023	Abdominal wall muscle weakness	Very frequent (99-80%)

Phenotype(s) retrieved from case reports

Total: 11

HPO ID	Term	# of case reports
HP:0001250	Seizures	5
HP:0000572	Visual loss	2
HP:0001251	Ataxia	2
HP:0002361	Psychomotor deterioration	2
HP:0000608	Macular degeneration	1
HP:0000618	Blindness	1
HP:0000726	Dementia	1
HP:0001662	Bradycardia	1
HP:0002072	Chorea	1
HP:0002333	Motor deterioration	1
HP:0011710	Bundle branch block	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID