Öz
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.
Anahtar Kelimeler
Kaynakça
- 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.
Öz
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
Anahtar Kelimeler
Kaynakça
- 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.
Ayrıntılar
| Diğer ID | JA44BJ49PS |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Aralık 2013 |
| Gönderilme Tarihi | 1 Aralık 2013 |
| Yayımlandığı Sayı | Yıl 2013 Cilt: 7 Sayı: 4 |