Ces radiol. 2009, 63(3):221-224

Magnetic resonance brain findings in Charcot-Marie-Tooth disease, type X1Original article

Jiří Lisý¹, Radim Mazanec², Jaroslav Tintěra³, Václav Šimonovský¹, Pavel Seeman⁴

¹ Klinika zobrazovacích metod, 2. LF UK a FN Motol, Praha

² Neurologická klinika 2. LF UK a FN Motol, Praha

³ Radiologické oddělení, Institut klinické a experimentální medicíny, Praha

⁴ Klinika dětské neurologie, DNA laboratoř 2. LF UK a FN Motol, Praha

Aim: Charcot-Marie-Tooth disease related on X chromosome (CMT X1) is 2nd most common inherited demyelinisating neuropathy, caused by mutation in GJB1 gene, encoding connexin 32. In case reports are on MRI of brain of CMT X1 patients described white matter changes resembling acute disseminated encephalomyelitis and changes in corpus callosum. Aim was to prove character and frequency of changes on MRI of brain in larger group of patients.

Method: Group consisted of 27 patients (14 male and 13 female in age 17-62 years mean 34 years) with proven GJB1 related Charcot-Marie-Tooth disease. MR of the brain has been performed on 1,5T equipment by T2/TSE a FLAIR sequence in transversal plane, T1/IR-TSE in coronal plane and T2/TSE in sagittal plane with narrow slices centred on midline area.

Results: Splenium of corpus callosum was involved by 16 patients. Involvement of splenium of corpus callosum was considered as severe in 2 cases, in 9 patients as middle and by 5 patients as mild. Corpus callosum was normal in 11 patients. Diffusely increased T2 signal in periventricular white matter parietally was seen in 14 CMT X1 patients. On contrary focal changes similar to ADEM were not seen in any of CMT X1 patients. Other findings were not specific.

Conclusion: Increased T2 signal in splenium of corpus callosum was detectable in 59% of CMT X1 patients. Diffuse increase of T2 signal in periventricular white matter parietally was seen in more than 1/2 of patients. Vice versa changes in white matter similar to ADEM weren't seen.

Keywords: Charcot-Marie-Tooth, X1 Charcot-Marie-Tooth, hereditary demyelinisating neuropathy, connexin 32, GJB1, corpus callosum, splenium, genu, MRI

Grants and funding:

Práce byla podpořena grantem VZ 00064203/6506.

Accepted: June 1, 2009; Published: September 1, 2009  Show citation