The Brain MR Imaging in Patients with Myotonic Dystrophy DM 1

Authors: T. Belšan 1,5;  J. Kraus 2;  R. Mazanec 3;  Z. Mušová 4;  Á. Bóday 4;  T. Maříková 4;  M. Kynčl 1
Authors‘ workplace: 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: 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.


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


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