The Brain MR Imaging in Patients with Myotonic Dystrophy DM 1

Česká verzia

Authors: T. Belšan ^1,5; J. Kraus ²; R. Mazanec ³; Z. Mušová ⁴; Á. Bóday ⁴; T. Maříková ⁴; M. Kynčl ¹
Authors place of work: Klinika zobrazovacích metod 2. lékařská fakulta UK a FN v Motole, Praha přednosta: prof. MUDr. Jiří Neuwirth, CSc. ¹; Klinika dětské neurologie 2. lékařská fakulta UK a FN v Motole, Praha přednosta: doc. MUDr. Vladimír Komárek, CSc. ²; Neurologická klinika 2. lékařská fakulta UK a FN v Motole, Praha přednosta: doc. MUDr. Martin Bojar, CSc. ³; Ústav biologie a lékařské genetiky 2. lékařská fakulta UK a FN v Motole, Praha přednosta: prof. MUDr. Petr Goetz, CSc. ⁴; Radiodiagnostické oddělení ÚVN, Praha primář: MUDr. František Charvát ⁵
Published in the journal: Cesk Slov Neurol N 2007; 70/103(3): 266-271
Category: Short Communication

Práce byla podpořena grantem IGA MZ ČR 8052-3, a výzkumnými záměry VZ FNM č. 00000064203 a MZO 00064203.

Summary

Myotonic dystrophies (DM 1 and DM 2) are multisystem disorders with autosomal dominant heredity manifested particularly with muscular weakness, myotonia, cataract, cardiac transmission disturbances and cardiomyopathy. In literature there are given various changes in pictures of magnetic resonance (MRI) of the brain in patients with myotonic dystrophy. A set of 13 patients with DM 1 demonstrated glial changes in the perivascular and deep white matter of the parietal, occipital and frontal lobes (with increasing frequency) in the total of 11 subjects (84%), moreover, even glial changes in the subcortical white matter of the frontal parts of temporal lobes were seen in 8 patients (62%), the cerebral atrophy was described in 8 subjects (62%). Nine patients (69%) showed striking width of Virchow-Robin´s perivascular spaces. The cranium was dilated in 3 patients (23%). Two patients (15%) had a quite normal finding in the MRI picture. The study has demonstrated that MRI of the head and brain in patients with myotonic dystrophy DM 1 shows various frequency of structural and signal changes occurring particularly in the white matter and they are in themselves non-specific. Their cumulation in characteristic locations has confirmed clinical diagnosis of myotonic dystrophy. A negative finding in the brain MRI does not eliminate the disease.

Key words:
magnetic resonance – myotonic dystrophy – diagnostic imaging

Zdroje

1. Miaux Y, Chiras J, Eymard B, Lauriot-Prevost MC, Radvanyi H, Martin-Duverneuil N et al. Cranial MRI findings in myotonic dystrophy. Neuroradiology 1997; 39 (3): 166–170.

2. Di Costanzo A, Di Salle F, Santoro L, Bonavita V, Tedeschi G. Dilated Virchow-Robin spaces in myotonic dystrophy: frequency, extent and significance. Eur Neurol 2001; 46 (3): 131–139.

3. Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K et al. Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional MRI study. Neurosci Lett 2003; 348 (2): 73–6.

4. Ogata A, Terae S, Fujita M, Tashiro K. Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: an MRI and neuropathological study. Neuroradiology 1998; 40 (7): 411–5.

5. Di Costanzo A, Di Salle, F, Santoro L, Tessitore A, Bonavita V, Tedeschi G. Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study. J Neurol 2002; 249 (9): 1175–1182.

6. Takaba J, Abe N, Fukuda H. Evaluation of brain in myotonic dystrophy using diffusion tensor MR imaging. Nipp Hosh Gijutsu Gakkai Zasshi 2003; 59 (7): 831–838.

7. Hund E, Jansen O, Koch MC, Ricker K, Fogel W, Niedermaier N et al. Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology 1997; 48 (1): 33–37.

8. Abe K, Fujimura H, Soga F. The fluid-attenuated inversion-recovery pulse sequence in assessment of central nervous systém involvement in myotonic dystrophy. Neuroradiology 1998; 40 (1): 32–35.

9. Mizukami K, Sasaki M, Baba A, Suzuki T, Shiraishi H. An autopsy case of myotonic dystrophy with mental disorders and various neuropathologic features. Psychiatry Clin Neurosci 1999; 53: 51-55.

10. Refsum S, Lonnum A, Sjaastad O, Engeset A. Dystrophia myotonica. Repeated pneumoencephalographic studies in ten patients. Neurology 1967; 17: 345–348.

11. Martinello F, Piazza A, Pastorello E, Angelini C, Trevisan CP. Clinical and neuroimaging study of cerebral nervous system in congenital myotonic dystrophy. J Neurol 1999; 246: 186–192.

12. Tanabe Y, Iai M, Tamai K, Fujimoto N, Sugita K. Neuroradiological findings in children with congenital myotonic dystrophy. Acta Pediatr 1992; 81: 613–617.

13. Huber SJ, Kissel JT, Shuttleworth EC, Chakeres DW, Clapp LE, Brogan MA. Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol 1989; 46: 536–540.

14. Sergeant N, Sablonnićre B, Schraen-Maschke S, Ghestem A, Maurage CA, Wattez A et al. Dysregulation of human brain microtubule- associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 2001; 10: 2143–2155. 15. Harper PS. Myotonic dystrophy. London: WB Saunders; 2002.

16. Antonini G, Mainero C, Romano A, Giubilei F, Ceschin V, Gragnani F et al. Cerebral atrophy in myotonic dystrophy: a voxel based morphometric study. J Neurol Neurosurg Psychiatry 2004; 75: 1611–1613.