BibTex RIS Cite

Late infantile neuronal ceroid lipofuscinosis: A case reports

Year 2010, Volume: 45 Issue: 2, - , 01.06.2010
https://doi.org/10.4274/tpa.45.155

Abstract

Summary Neuronal ceroid lipofuscinoses are the most common neurodegenerative childhood onset disorders characterized by autosomal recessive inheritance epileptic seizures progressive psychomotor deterioration visual failure and premature death At least seven subtypes of childhood onset neuronal ceroid lipofuscinoses have been identified of which the late infantile onset forms are genetically the most heterogeneous We present a five year old girl with late infantile neuronal ceroid lipofuscinosis who presented with progressive psychomotor retardation ataxia and epilepsia Palmitoyl protein thioesterase activity was very low and a homozygous mutation was identified in CLN2 gene Turk Arch Ped 2010; 45: 155 7 Key words: CLN2 gene electron microscopy neuronal ceroid lipofuscinosis

References

  • Santavuori P, Lauronen L, Kirveskari E, Aberg L, Sainio K, Autti T. Neuronal ceroid lipofuscinoses in childhood. Neurol Sci 2000; 21: 35-41. (Abstract) / (PDF)
  • Siintola E, Topcu M, Aula N, et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 2007; 81: 136-46. (Abstract) / (Full Text)
  • Sinha S, Satishchandra P, Santosh V, Gayatri N, Shankar SK. Neuronal ceroid lipofuscinosis: a clinicopathological study. Seizure 2004; 13: 235-40. (Abstract) / (Full Text) / (PDF)
  • Carlen B, Englund E. Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis. Ultrastruct Pathol 2001; 25: 285-8. (Abstract)
  • Bercovic SF, Andermann F. Progressive myoclonus epilep- sies: Clinical and neurophysiological diagnosis. J Clin Neurophysiol 1991; 8: 261-74. (Abstract)
  • Petersen B, Handwerker M, Huppertz HI. Neuroradiological findings in classical late infantile neuronal ceroidlipofusci- nosis. Pediatr Neurol 1996; 5: 344-7. (Abstract) / (PDF)
  • Elleder M, Franc J, Kraus J. Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of NCL Group. Eur J Paediatr Neurol 1997; 4: 109-14. (Abstract) / (PDF)

Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu

Year 2010, Volume: 45 Issue: 2, - , 01.06.2010
https://doi.org/10.4274/tpa.45.155

Abstract

Özet Nöronal seroid lipofusinozlar otozomal çekinik kalıtım epileptik nöbetler ilerleyici psikomotor bozulma görme kaybı ve erken ölüm ile belirgin çocukluk çağında en sık görülen nörodejeneratif hastalıklardır Çocukluk çağında nöronal seroid lipofusinozların en az yedi alt tipi tanımlanmış olup bunların içinde geç infantil nöronal seroid lipofusinoz genetik olarak en heterojen tipidir Bu yazıda ilerleyici psikomotor gerilik ataksi ve epilepsi ile getirilen ve geç infantil nöronal seroid lipofusinoz tanısı alan bir olgu sunulmaktadır Palmitoyil protein tiyoesteraz aktivitesi çok düşük olup CLN2 geninde homozigot mutasyon saptanmıştır Türk Ped Arş 2010; 45: 155 7 Anahtar sözcükler: CLN2 geni elektron mikroskopi nöronal seroid lipofusinoz

References

  • Santavuori P, Lauronen L, Kirveskari E, Aberg L, Sainio K, Autti T. Neuronal ceroid lipofuscinoses in childhood. Neurol Sci 2000; 21: 35-41. (Abstract) / (PDF)
  • Siintola E, Topcu M, Aula N, et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 2007; 81: 136-46. (Abstract) / (Full Text)
  • Sinha S, Satishchandra P, Santosh V, Gayatri N, Shankar SK. Neuronal ceroid lipofuscinosis: a clinicopathological study. Seizure 2004; 13: 235-40. (Abstract) / (Full Text) / (PDF)
  • Carlen B, Englund E. Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis. Ultrastruct Pathol 2001; 25: 285-8. (Abstract)
  • Bercovic SF, Andermann F. Progressive myoclonus epilep- sies: Clinical and neurophysiological diagnosis. J Clin Neurophysiol 1991; 8: 261-74. (Abstract)
  • Petersen B, Handwerker M, Huppertz HI. Neuroradiological findings in classical late infantile neuronal ceroidlipofusci- nosis. Pediatr Neurol 1996; 5: 344-7. (Abstract) / (PDF)
  • Elleder M, Franc J, Kraus J. Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of NCL Group. Eur J Paediatr Neurol 1997; 4: 109-14. (Abstract) / (PDF)
There are 7 citations in total.

Details

Primary Language Turkish
Journal Section When the Turkish word exists
Authors

Uluç Yiş This is me

Semra Hız Kurul This is me

Candan Özoğul This is me

Eray Dirik This is me

Publication Date June 1, 2010
Published in Issue Year 2010 Volume: 45 Issue: 2

Cite

APA Yiş, U., Kurul, S. H., Özoğul, C., Dirik, E. (2010). Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu. Türk Pediatri Arşivi, 45(2). https://doi.org/10.4274/tpa.45.155
AMA Yiş U, Kurul SH, Özoğul C, Dirik E. Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu. Türk Pediatri Arşivi. June 2010;45(2). doi:10.4274/tpa.45.155
Chicago Yiş, Uluç, Semra Hız Kurul, Candan Özoğul, and Eray Dirik. “Geç Infantil nöronal Seroid Lipofusinoz: Bir Olgu Sunumu”. Türk Pediatri Arşivi 45, no. 2 (June 2010). https://doi.org/10.4274/tpa.45.155.
EndNote Yiş U, Kurul SH, Özoğul C, Dirik E (June 1, 2010) Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu. Türk Pediatri Arşivi 45 2
IEEE U. Yiş, S. H. Kurul, C. Özoğul, and E. Dirik, “Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu”, Türk Pediatri Arşivi, vol. 45, no. 2, 2010, doi: 10.4274/tpa.45.155.
ISNAD Yiş, Uluç et al. “Geç Infantil nöronal Seroid Lipofusinoz: Bir Olgu Sunumu”. Türk Pediatri Arşivi 45/2 (June 2010). https://doi.org/10.4274/tpa.45.155.
JAMA Yiş U, Kurul SH, Özoğul C, Dirik E. Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu. Türk Pediatri Arşivi. 2010;45. doi:10.4274/tpa.45.155.
MLA Yiş, Uluç et al. “Geç Infantil nöronal Seroid Lipofusinoz: Bir Olgu Sunumu”. Türk Pediatri Arşivi, vol. 45, no. 2, 2010, doi:10.4274/tpa.45.155.
Vancouver Yiş U, Kurul SH, Özoğul C, Dirik E. Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu. Türk Pediatri Arşivi. 2010;45(2).