Juvenile Neuronal Ceroid Lipofuscinosis in a Patient of Iranian Origin

Document Type : Case Report/Series

Authors

Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences , Tehran, Iran

Abstract

Introduction: Juvenile neuronal ceroid lipofuscinoses (JNCL) is a rare clinical condition especially in Asian population.

Case Presentation: We report an 8-year-old female with a history of the progressive deterioration of vision loss, mental retardation, seizures and severe physical disabilities since 3 years before admission. Fundus examination revealed bilateral optic atrophy, bull’s eye maculopathy, reduced or absent electroretinogram (ERG) signals and attenuation of the retinal blood vessels. The diagnosis was confirmed by genetic detection of the mutation along with multifocal electroretinogram scans and visual evoked potential (VEP).

Conclusion: To the best of our knowledge, the current study is the first to explain a patient of Iranian origin. Consequently, although there is no treatment for the disease, genetic consults can help to prevent new affected cases from heterozygote parents.

Keywords

Open Access Policy: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. To view a copy of this licence, visit https://creativecommons.org/licenses/by/4.0/

References

1.Zhong N. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism. Mol Genet Metab. 2000;71(1-2):195- 206. [PubMed: 11001811].
https://doi.org/10.1006/mgme.2000.3057
PMid:11001811
 
2. Peltonen L, Savukoski M, Vesa J. Genetics of the neuronal Karimi S et al. 54 Razavi Int J Med. 2018
 
6(3): e60142. ceroid lipofuscinoses. Curr Opin Genet Dev. 2000;10(3):299- 305. [PubMed: 10826995].
https://doi.org/10.1016/S0959-437X(00)00086-1
PMid:10826995
 
3. Wisniewski KE, Kida E, Patxot OF, Connell F. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations. Am J Med Genet. 1992;42(4):525-32. [PubMed: 1319116].
https://doi.org/10.1002/ajmg.1320420420
PMid:1319116
 
4. Sinha S, Satishchandra P, Santosh V, Gayatri N, Shankar SK. Neuronal ceroid lipofuscinosis: a clinicopathological study. Seizure. 2004;13(4):235-40. [PubMed: 15121131].
https://doi.org/10.1016/S1059-1311(03)00163-8
PMid:15121131
 
5. Resource NC. A gateway for batten disease. London: University College London; 2009.
 
6. Worgall S, Kekatpure MV, Heier L, Ballon D, Dyke JP, Shungu D, et al. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology. 2007;69(6):521-35 [PubMed: 17679671].
https://doi.org/10.1212/01.wnl.0000267885.47092.40
PMid:17679671
 
7. Santavuori P, Heiskala H, Westermarck T, Sainio K, Moren R. Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease. Am J Med Genet Suppl. 1988;5:265- 74. [PubMed: 3146324].
https://doi.org/10.1002/ajmg.1320310629
PMid:3146324
 
8. Weleber RG. The dystrophic retina in multi-system disorders: the electroretinogram in neuronal ceroid lipofuscinoses. Eye. 1998;12(3b):580-90.
https://doi.org/10.1038/eye.1998.148
PMid:9775220
 
9. Pampiglione G, Harden A. So-called neuronal ceroid lipofuscinosis. Neurophysiological studies in 60 children. J Neurol Neurosurg Psychiatry. 1977;40(4):323-30. [PubMed: 874509].
https://doi.org/10.1136/jnnp.40.4.323
PMid:874509 PMCid:PMC492698
 
10. Dyken PR. Neuronal ceroid-lipofuscinoses. In: Swaiman KF, editor. Pediatric neurology principles and practice. 3rd ed. Philadelphia: Mosby Elsevier; 1999. P. 839-46.
 
11. Goebel HH. Morphologic diagnosis in neuronal ceroid lipofuscinosis. Neuropediatrics. 1997;28(1):67-9. [PubMed: 9151327].
https://doi.org/10.1055/s-2007-973672
PMid:9151327
 
12. Dhar S, Bitting RL, Rylova SN, Jansen PJ, Lockhart E, Koeberl DD, et al. Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2- deficient neurons. Ann Neurol. 2002;51:448-66. [PubMed: 11921051].
https://doi.org/10.1002/ana.10143
PMid:11921051
 
13. Setty G, Saleem R, Khan A, Hussain N. Atypical juvenile neuronal ceroid lipofuscinosis: a report of three cases. J Pediatr Neurosci. 2013;8(2):117-9. [PubMed: 24082928].
https://doi.org/10.4103/1817-1745.117840
PMid:24082928 PMCid:PMC3783717
 
14. Kohlschuetter A, Schulz A. CLN2 disease (classic late infantile neuronal ceroid lipofuscinosis). Pediatr Endocrinol Rev. 2016;13:682-8. [PubMed: 27491216].
Razavi International Journal of Medicine
Volume 6, Issue 3
July 2018
Pages 42-45

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