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Revista de la Asociación Médica del Centro Médico ABC

2012, Number 3

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An Med Asoc Med Hosp ABC 2012; 57 (3)

Late infantile neuronal ceroid lipofuscinoses. A case report

Andrade-Bañuelos A, Jean-Tron G, Ortega-Ponce F, Arnold ST, Rana RS, Islas-García D

Language: Spanish
References: 32
Page: 256-261
PDF size: 586.70 Kb.


ABSTRACT

Among the progressive myoclonic epilepsies, neuronal ceroid lipofuscinosis are rare hereditary conditions that usually affect the pediatric population, these lead to neuro-developmental regression, severe progressive myoclonic epilepsy, ataxia and early death. There are 8 known types of genetic mutations that cause this condition. The diagnosis remains to be clinical, with the corroboration by imaging studies such as computed tomography and magnetic resonance imaging, and electrographic findings (EEG). The staining of tissue biopsy and electron microscopy provide excellent ancillary tool. In this article we present a 4 year old boy whose clinical manifestations including seizure semiology and age of presentation, neuro-developmental regression, neuro-imaging, neurophysiologic and neuro-pathology data, helped to confirm the diagnosis of late-infantile neuronal ceroid lipofuscinosis.


REFERENCES

  1. Wisniewski KE, Kida E, Connell F, Zhong N. Neuronal ceroid lipofuscinoses: research update. Neurol Sci 2000; 21 (Suppl 3): S49-56.

  2. Berkovic SF, Cochius J, Andermann E, Andermann F. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia 1993; 34 (Suppl 3): S19-30.

  3. Zeman W., Dyken P. Neural Ceroid Lipofuscinosis: Relationship to amaurotic family idiocy? Pediatrics 1969, 44: 570-583.

  4. Goebel HH. The neuronal ceroid-lipofuscinoses. J Child Neurol 1995; 10 (6): 424-437.

  5. Williams R, Vesa J, Järvelä I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D et al. Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes. Am J Hum Genet 1993; 53 (4): 931-935.

  6. Wilkinson ME. Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review. Optometry 2001; 72 (11): 724-728.

  7. Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschutter A, Lin S, Boustany RM. Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. Ann Neurol 2004; 56: 342–350.

  8. Shinnar S. The new ILAE classification. Epilepsia 2010; 51 (4): 715-717.

  9. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, Van Emde Boas W et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology. Epilepsia 2010; 51: 676-685.

  10. Zeman W, Donahue S, Dyken P, Green J. The neuronal ceroid-lipofuscinoses (Batten-Vogt syndrome). Handbook of Clinical Neurology. In: Vinken PJ, Bruyn GW. North Holland Publishing Co., Amsterdam; 1970; 10: 588-679.

  11. Aberg L. Juvenile neuronal ceroid lipofuscinosis. Brain-Related symptoms and their treatment. Academic Dissertation, Faculty of Medicine of the University of Helsinki 2001. Accessed at: http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/aberg/iuvenile.pdf

  12. Järvelä I, Schleutker J, Haataja L, Santavuori P et al. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics. 1991; 9 (1): 170–173.

  13. Santavuori P. Neural ceroid lipofuscinoses in childhood. Brain Dev 1988; 10: 80-83.

  14. Williams RE. NCL incidence and prevalence: what do we know? Presented at the 12th International Congress on Neuronal Ceroid Lipofuscinosis Hamburg, Germany; 2009, June 3-6. Accessed at: http://www.ncl2009hamburg.de/docs/NCL_Abstract_Book_final_o.pdf

  15. Wisniewski KE, Zhong N, Philippart M. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 2001; 57: 576–581.

  16. Jansky J. Dosud nepopsany pripad familiarni amauroticke idiotie komplilovane s hypoplasii mozeckovou. Sbom Lek 1908; 13: 165-196.

  17. Bielschowsky M. Über spat-infantile familiäre amaurotische Idiotic mit Kleinhirnsymptomen. Dtsch Z Nervenheilk 1913; 50: 7–29.

  18. Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol 2004; 14: 61–69.

  19. Boustany RM. Neurology of the neuronal ceroidlipofuscinoses: late infantile and juvenile types. Am J Med Genet 1992; 42: 533–535.

  20. Sleat DE, Gin RM, Sohar I et al. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet 1999; 64: 1511–1523.

  21. Ramachandran N, Girard JM, Turnbull J, and Minassian BA. The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia 2009; 50 (Suppl. 5): 29–36.

  22. Rapola J, Salonen R, Ammala P et al. Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic vili. Prenat Diagn 1993; 10: 553-559.

  23. Pampiglione G, Harden A. Neurophysiological identification of a late infantile form of neuronal lipidosis. J Neurol Neurosurg Psychiatry 1977; 36: 323-330.

  24. Tackmann W, Kuhlendahl D. Evoked potentials in neuronal ceroid lipofuscinosis. Eur Neurol 1979; 18 (4): 234-242.

  25. Mrak RE. The big eye in the 21st Century: The role of electron microscopy in modern diagnostic neuropathology. Journal of Neuropathology and Experimental Neurology 2002; 61 (12): 1027-1039.

  26. Wisniewski KE, Zhong N. Philippart M. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 2001; 57: 576-581.

  27. Alroy J, Ucci AA, Pfannl R. Why skin biopsy is useful for the diagnosis of lysosomal storage diseases? Current Medical Literature: Lysosomal Storage Disease 2006; 5: 70-76.

  28. Lo¨nnqvist T, Vanhanen SL, Vettenranta K et al. Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis. Neurology 2001; 57: 1411–1416.

  29. Lake BD, Steward CG, Oakhill A et al. Bone marrow transplantation in late infantile batten disease and juvenile batten disease. Neuropediatrics 1997; 28: 80–81.

  30. Mitchison HM, Mole SE. Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). Curr Opin Neurol 2001; 14: 795-803.

  31. Wong AM, Rahim AA, Waddington SN, Cooper JD. Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis. Biochem Soc Trans 2010; 38 (6): 1484-1488.

  32. Mole S, Williams R. Neuronal ceroid-lipofuscinoses. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews [Internet]. Seattle (WA): University of Washington, Seattle: 1993-2001; 2001 [updated 2010 Mar 2]. Accessed at: http://www.ncbi.nlm.nih.gov/books/NBK1428




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