Abstract
Canavan Hastalığı Yahudi olmayan toplumlarda çok nadir görülen, otozomal resesif geçişli, ciddi, ilerleyici bir lökodistrofidir. Aspartoasilaz enzim yetmezliği sonucu gelişmektedir. Makrosefali, hipotoni, nöromotor gelişme geriliği en sık görülen bulgularındandır. Altıncı ayda psikomotor gelişim durur ve bunu hiperekstansiyon atakları izler. Manyetik Rezonans Spektroskopi (MRS) incelemesi yüksek duyarlılığı ve özgüllüğü nedeniyle hastalığın tanısında oldukça değerlidir. Tedavisi olmamakla birlikte, tanının kesinleştirilmesi ve diğer tanıların ekarte edilmesi açısından Manyetik Rezonans görüntüleme (MRG) ve MRS önemlidir.
Keywords
References
- Kaul R, Gao GP, Balamurugan K, Matalon R. Canavn Disease: Molecular basis of aspartoacylase deficiency. J Inherit Metab Dis 1994; 17:295.
- Elpeleg On, Anikster Y, Barash V, et al. The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jewsin Israel. Am J Hum Genet 1994; 55-287.
- Elpeleg On, Shaag A. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewishpatients. Am J Hum Fenet 1995; 57:572.
- Jung-Eun Cheon, In-One Kim, Young Seung Hwang, Ki Joong Kim, Kyu-Chang Wang, Byung -Kyu Cho, Je Geun Chi, Chong Jai kim, Woo Sun Kim, Kyung Mo Yeon. leukodystrophy in children: A pictorial review of MR imaging features. RadioGraphics 2000;22:461-76.
- Traegar EC, Rapin I. The clinical course of Canavan disease. Pediatr neurol 1998; 18:207.
- Yalcinkaya C, Benbir G, Salomons G S, Karaarslan E, Rolland Mo, Jakobs C, Van der Knaap MS. Atypical MRI findings in Canacan disease: A patient with a mild course. neuropediatrics, 2005;36:336-9.
- J Brismar, G Brismar, G Gascon, P Ozand. Canavan Disease: CT and MRI Imaging of the brain. American Journal of neuroradiology 1990;11:805-10.
- Steven JM, Curtis A, Given II. Case 99: Canavan Disease.Radiology 2006;241:310-24.
- Sener Rn. Canavan Disease: Diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 2003; 27: 30-3
- Al Baert, K Sartor, Massimo Filippi, nicola de Stefano, Vincent Doussert. MR Imaging in white matter disease of the brain and spinal cord. Medical Radiology/Diagnostik imaging. 2005.
Abstract
Canavan disease is an autosomal recessively inherited severe progressive leukodystrophy and is rarely seen in nonJewish communities. It results from the deficiency of the aspartoacylase enzyme. The most common findings are macrocephaly, hypotonia, and neuromotor retardation. Psychomotor development ceases and hyperextension attacks follow in the sixth month. Magnetic Resonance Spectroscopy (MRS) is of high value in the diagnosis of this disease because of its high sensitivity and specificity. Although the disease has no treatment, Magnetic Resonance Imaging (MRI) and MRS are important for confirming the diagnosis and eliminating other disorders
Keywords
References
- Kaul R, Gao GP, Balamurugan K, Matalon R. Canavn Disease: Molecular basis of aspartoacylase deficiency. J Inherit Metab Dis 1994; 17:295.
- Elpeleg On, Anikster Y, Barash V, et al. The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jewsin Israel. Am J Hum Genet 1994; 55-287.
- Elpeleg On, Shaag A. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewishpatients. Am J Hum Fenet 1995; 57:572.
- Jung-Eun Cheon, In-One Kim, Young Seung Hwang, Ki Joong Kim, Kyu-Chang Wang, Byung -Kyu Cho, Je Geun Chi, Chong Jai kim, Woo Sun Kim, Kyung Mo Yeon. leukodystrophy in children: A pictorial review of MR imaging features. RadioGraphics 2000;22:461-76.
- Traegar EC, Rapin I. The clinical course of Canavan disease. Pediatr neurol 1998; 18:207.
- Yalcinkaya C, Benbir G, Salomons G S, Karaarslan E, Rolland Mo, Jakobs C, Van der Knaap MS. Atypical MRI findings in Canacan disease: A patient with a mild course. neuropediatrics, 2005;36:336-9.
- J Brismar, G Brismar, G Gascon, P Ozand. Canavan Disease: CT and MRI Imaging of the brain. American Journal of neuroradiology 1990;11:805-10.
- Steven JM, Curtis A, Given II. Case 99: Canavan Disease.Radiology 2006;241:310-24.
- Sener Rn. Canavan Disease: Diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 2003; 27: 30-3
- Al Baert, K Sartor, Massimo Filippi, nicola de Stefano, Vincent Doussert. MR Imaging in white matter disease of the brain and spinal cord. Medical Radiology/Diagnostik imaging. 2005.
Details
| Other ID | JA44BJ49PS |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 1, 2013 |
| Submission Date | December 1, 2013 |
| Published in Issue | Year 2013 Volume: 7 Issue: 4 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
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