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)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
3
(4.0%)		 12363103
 The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis.
Lavrov AY, Ilyna ES, Zakharova EY, Boukina AM, Tishkanina SV.
Eur J Paediatr Neurol. 2002;6(3):161-4.
Optic atrophy
TPP1
g|SUB|C|3670|T p|SUB|R|208|X
Aminopeptidase Brain Child Child, Preschool Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Electroencephalography Endopeptidases Evoked Potentials Females Homo sapiens Homozygote Magnetic Resonance Imaging Male Mutation Neurologic Examination Neuronal Ceroid-Lipofuscinoses Russia Serine Proteases Tripeptidyl-Peptidase 1
3
(4.0%)		 11782333
 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.
Blindness
Females Gingival Neoplasms Homo sapiens Infection Neuronal Ceroid-Lipofuscinoses Sacrococcygeal Region
3
(4.0%)		 11483403
 Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis.
Pena JA, Cardozo JJ, Montiel CM, Molina OM, Boustany R.
Pediatr Neurol. 2001;25(1):78-80.
Cerebral atrophy
Brain Child, Preschool Chromosomes, Human, Pair 15 Differential Diagnosis Disease Progression Females Gliosis Homo sapiens Magnetic Resonance Imaging Neuronal Ceroid-Lipofuscinoses
3
(4.0%)		 11406682
 Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient.
Ko CH, Kong CK, Chow TC, Lee KC.
Hong Kong Med J. 2001;7(1):93-6.
Seizure
Aminopeptidase Child, Preschool Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Electroencephalography Endopeptidases Homo sapiens Male Neuronal Ceroid-Lipofuscinoses Peptide Hydrolases Serine Proteases Tripeptidyl-Peptidase 1
3
(4.0%)		 10419622
 Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).
Rapola J, Lahdetie J, Isosomppi J, Helminen P, Penttinen M, Jarvela I.
Prenat Diagn. 1999;19(7):685-8.
Motor deterioration
CLN3 CLN5 NCL PPT1 TPP1
Child Chorionic Villi Sampling DNA Mutational Analysis Electron Microscopy Females Gene Deletion Gestational Age Haplotypes Homo sapiens Lysosome-Associated Membrane Glycoproteins Membrane Proteins Mutation Neuronal Ceroid-Lipofuscinoses Pregnancy Tripeptidyl-Peptidase 1
3
(4.0%)		 9880149
 Photoparoxysmal response in late infantile neuronal ceroid-lipofuscinosis.
Naqvi SZ, Beach RL, Armao DM, Greenwood RS.
Pediatr Neurol. 1998;19(5):395-8.
Rapid neurologic deterioration
Biopsy Child, Preschool Differential Diagnosis Electroencephalography Electron Microscopy Females Homo sapiens Lysosomes Magnetic Resonance Imaging Neuronal Ceroid-Lipofuscinoses Photic Stimulation Temporal Lobe
3
(4.0%)		 9542598
 Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall.
Aberg L, Jarvela I, Rapola J, Autti T, Kirveskari E, Lappi M, Sipila L, Santavuori P.
Acta Neuropathol. 1998;95(3):306-12.
Macular degeneration
CLN3
Child DNA Mutational Analysis Electron Microscopy Homo sapiens Inclusion Bodies Intestines Magnetic Resonance Imaging Male Neuronal Ceroid-Lipofuscinoses Phenotype
3
(4.0%)		 8972537
 Neuroradiological findings in classical late infantile neuronal ceroid-lipofuscinosis.
Petersen B, Handwerker M, Huppertz HI.
Pediatr Neurol. 1996;15(4):344-7.
Ataxia
Basal Ganglia Brain Cerebral Ventricles Child, Preschool Dominance, Cerebral Females Follow-Up Studies Homo sapiens Neurologic Examination Neuronal Ceroid-Lipofuscinoses X-Ray Computed Tomography
3
(4.0%)		 8355821
 New subform of the late infantile form of neuronal ceroid lipofuscinosis.
Wisniewski KE, Kida E, Connell F, Elleder M, Eviatar L, Konkol RJ.
Neuropediatrics. 1993;24(3):155-63.
Visual impairment
Basal Ganglia Basal Ganglia Diseases Cerebellar Diseases Cerebellum Child Child, Preschool Dementia Electroencephalography Females Fibroblasts Homo sapiens Magnetic Resonance Imaging Male Movement Disorders Nerve Degeneration Neuronal Ceroid-Lipofuscinoses
3
(4.0%)		 7694995
 Positron emission tomography in neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease): a case report.
Iannetti P, Messa C, Spalice A, Lucignani G, Fazio F.
Brain Dev. 1994;16(6):459-62.
Macular degeneration
Animals Biopsy Brain Deoxyglucose Females Homo sapiens Neuronal Ceroid-Lipofuscinoses Skin Tomography, Emission-Computed
        

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