A case of late infantile neuronal ceroid lipofuscinosis

Yonsei Medical Journal

Volumn 44, Issue 2, 2003, Pages 331-335

  Lee, Chang Woo ^a   Bang, Hoil ^a   Oh, Yeon Gyun ^a   Yun, Hyang Suk ^a   Kim, Jong Duck ^a   Coe, Chang Jun ^b  

^a Wonkwang University   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

Author keywords

Late infantile neuronal ceroid lipofuscinosis; Progressive myoclonic seizure

Indexed keywords

ANTICONVULSIVE AGENT; DIAZEPAM; PHENOBARBITAL; VALPROIC ACID;

ATAXIA; BRAIN ATROPHY; CASE REPORT; CELL INCLUSION; CEREBELLUM ATROPHY; CLINICAL FEATURE; DEGENERATIVE DISEASE; DEMENTIA; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAPHY; ELECTRON MICROSCOPY; HUMAN; MALE; MEDICAL LITERATURE; MYOCLONUS SEIZURE; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PHOTOSTIMULATION; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; RETINA DISEASE; REVIEW; SKIN EXAMINATION; SPIKE WAVE; VISUAL IMPAIRMENT;

EID: 0038057721     PISSN: 05135796     EISSN: None     Source Type: Journal    
DOI: 10.3349/ymj.2003.44.2.331     Document Type: Review

References (18)

1. Rider JA, Rider DL. Batten disease: past, present, and future. Am J Med Genet Suppl 1988;5:21-6.
2. Santavuori P. Neuronal ceroid lipofuscinosis in childhood. Brain Dev 1988;10:80-3.
3. Mole SE, Gardiner RM, Globel HH. The genetic and molecular basis of the neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol 1998;2:2-6.
4. Bielschowsky M. Uber spat-infantile familiare amaurotische idiotie mit kleinhirn symptomen. Dtsch Z Nervenheilk 1913;50:7-29.
5. Shin SC, Coe CJ. 3 Cases of neuronal ceroid lipofuscinosis. Korean Med Assoc 1990;33:1149-53.
6. Hwang KT. Kim JW. Kim YH. A Case of late infantile neuronal ceroid-lipofuscinosis. Journal of the Korean Pediatric Society 1994;37:1745-50.
7. Yun Y, Jiong Q, Ming L. Late infantile type neuronal ceroid lipofuscinoses in Chinese. Chin J Neurol 1999;32: 7-9.
8. Oishi K, Ida H, Kurasawa K, Eto Y. Clinical and molecular analysis of Japanese patients with neuronal ceroid lipofuscinosis. Mol Genet Metab 1999;66:344-8.
9. Spielmeyer W. Weitere Mitteilung ueber eine besondere Form von familiaerer amaurotischer Idiotie. Neurol Zbl 1905;24:1131-2.
10. Kufs M. Uber eine Spatform der amaurotischen Idiotie und ihre heredofamiliaren Grundlagen. Z Ges Neurol Psychiat 1925;95:169-88.
11. Katz ML, Gerhardt KO. Methylated lysine in storage body protein in sheep with hereditary ceroid lipofuscinosis. Biochim Biophys Acta 1992;1138:97-101.
12. Santavuori P. Infantile type of so-called neuronal ceroid lipofuscinosis. Part I. A clinical study of 15 patients. J Neurol Sci 1973;18:257-67.
13. Sleat DE, Donelly RJ, Lackland H. Association of mutations in a lysosomal protein with classical late infantile neuronal ceroid lipofuscinosis. Science 1997; 277:1802-5.
14. Wisniewski KE. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations. Am J Med Genet 1992; 42:525-32.
15. Pampiglione G, Harden A. So-called neuronal ceroid lipofuscinosis: neurophysiological studies in 60 children. J Neurol Neurosurg Psychiatr 1977;40:323-30.
16. Petersen B, Handwerker M, Huppertz HI. Neuroradiological findings in classical late infantile neuronal ceroid-lipofuscinosis. Pediatr Neurol 1996;15:344-7.
17. Carpenter S. The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs disease. Brain 1977; 100:137-56.
18. Farrell DF, Sumi SM. Skin punch biopsy in the diagnosis of juvenile neuronal ceroid-lipofuscinosis. Arch Neurol 1977;34:39-44.