Batten disease: a rare case report and review of literature
##plugins.themes.bootstrap3.article.main##
##plugins.themes.bootstrap3.article.sidebar##
Abstract
Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder. It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). The onset of this disease is between the ages of 5 and 8 years. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This disease progresses slowly and ends in death in the late teens or early 20s, although some may live into their 30s. We report a case of young male patient, who presented with seizures and mental retardation, diagnosed to be having Batten disease based on clinical and radiological examination.
##plugins.themes.bootstrap3.article.details##
vision loss, seizures, mental retardation, optic atrophy
2. Hobert JA, Dawson G. Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. Biochim Biophys Acta 2006; 1762(10):945–953.
3. Rakheja D, Narayan SB, Bennett MJ. Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. Cure Mol Med 2007; 7(6):603–608.
4. Aberg L, Bäckman M, Kirveskari E, Santavuori P. Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis. Epilepsia 2000; 41:1296-1302.
5. Jarvela I, Autti T, Lamminranta S, Aberg L, Raininko R, Santavuori P. Clinical and magnetic resonance imaging findings in Batten disease:analysis of the major mutation (1.02 kb deletion). Ann Neurol 1997; 42:799-802.
6. Larsen A, Sainio K, Aberg L, Santavuori P. Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis. Eur J Paediatr Neurol 2001; 5(1):179-183.
7. Collins J, Holder GE, Herbert H, Adams GGW. Batten disease: features to facilitate early diagnosis. Br J Ophthalmol 2006; 90(9):1119-1124.
8. Autti T, Raininko R, Vanhanen SL, Santavuori P. MRI of neuronal ceroid lipofuscinosis. Part I: cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis. Neuroradiology 1996; 38(5):476-482.
Archive of Clinical Cases is protected by copyright and may be used in accordance with copyright and other applicable laws. Content available at www.clinicalcases.eu and our digital applications is intended for personal noncommercial use.
Authors who submit a manuscript for publication in Archive of Clinical Cases agree to the following terms: a. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal. b. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal. c. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) only after the final version of the manuscript was accepted and published, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access). d. It is compulsory that before submission authors ensure that their work was not published in any other medical journals or pending acceptance for publication and that "Archives of Clinical Cases" is the only beneficiary at that moment if their work/case will be accepted by us.
Guidelines for linking to www.clinicalcases.eu a. The main purpose of the site linking to the Archive of Clinical Casess site should be educational. b. Links should be made to the Archive of Clinical Casess home page (www.clinicalcases.eu) or to the articles abstract. c. It is forbidden to use the Archive of Clinical Casess cover by outside organizations unless permission has been granted in advance, notifying our Secretary. d. Material owned by the Archive of Clinical Cases (including the name, logo, cover, and text) may not be used in any manner that may induce the idea or suggest that the Archive of Clinical Cases is in some way recommending a specific company, product or service. e. You must not use or allow others to access or use, all or any part of our Site or the contents and/or applications on it for commercial purposes without our permission. To seek permission to do anything prohibited by or not contained in these TERMS, or which requires our prior consent or agreement, you can contact us.