Transthyretin-related familial amyloid polyneuropathy: evaluation of CSF enhancement on serial T1-weighted and fluid-attenuated inversion recovery images following intravenous contrast administration.
OBJECTIVE
CSF enhancement on MR images after intravenous administration of gadolinium chelate, which mimics subarachnoid hemorrhage, has been reported. The purpose of this study was to determine whether CSF enhancement can be seen on serial MR images following administration of contrast material in patients with transthyretin-related familial amyloid polyneuropathy (FAP) and to assess other ancillary MR findings.


METHODS
We serially studied T1-weighted and fluid-attenuated inversion recovery (FLAIR) images of the brain before, immediately after, and 3, 6, and 24 hours after contrast administration in 6 patients with genetically confirmed transthyretin-related FAP. By consensus, 2 radiologists assessed the presence, degree, and extent of enhancement of the CSF, leptomeninges, brain parenchyma, and other structures. Statistical analysis was performed to define the difference of the enhancement between the 2 MR imagings.


RESULTS
In 3/6 patients with cysteine-for-tyrosine substitutions at position 114 (Tyr114Cys mutations), marked CSF enhancement was observed on the FLAIR images at 3 and 6 hours and on T1-weighted images at 3 hours after contrast administration. Although there was no significant difference between the 2 MR imagings, leptomeningeal enhancement for these 3 patients was evident only on FLAIR images. The labyrinth and vitreous body was also enhanced on postcontrast delayed MR images of these 3 patients. These enhancements were not observed in the other 3 patients with Val30Met mutation. In none of the 6 patients did images demonstrate parenchymal enhancement of the brain.


CONCLUSIONS
In FAP patients with Tyr114Cys mutations, contrast material can leak into the CSF. This finding may depend on the subtype of FAP and be more evident with FLAIR images. The enhancement of the leptomeninges, labyrinth, and vitreous body was also seen in the patients.
Hirai
Toshinori
T
Department of Diagnostic Radiology, University of Occupational and Environmental Health, School of Medicine, Kitakyushu, Japan.
Ando
Yukio
Y
Yamura
Masayuki
M
Kitajima
Mika
M
Hayashida
Yoshiko
Y
Korogi
Yukunori
Y
Yamashita
Taro
T
Yamashita
Yasuyuki
Y
D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000235:genetics*; D001099:Arachnoid / Q000473:pathology; D001921:Brain / Q000473:pathology*; D003287:Contrast Media / Q000493:pharmacokinetics*; D003545:Cysteine; D007758:Ear, Inner / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010841:Pia Mater / Q000473:pathology; D011228:Prealbumin / Q000235:genetics*; D014443:Tyrosine; D014822:Vitreous Body / Q000473:pathology
D003287:Contrast Media; D011228:Prealbumin; D014443:Tyrosine; D003545:Cysteine