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Case Reports
. 2022 Nov;172(15-16):379-382.
doi: 10.1007/s10354-021-00893-z. Epub 2021 Nov 3.

Tumefactive demyelinating CNS lesion in a 60-year-old woman with familial Mediterranean fever

Constanze Trostel  1 , Kornelia Laichinger  1 , Till-Karsten Hauser  2 , Sebastian Saur  3 , Markus Krumbholz  1   4 , Jörg Henes  3 , Ulf Ziemann  1   4 , Markus C Kowarik  5   6   7
Affiliations
Case Reports

Tumefactive demyelinating CNS lesion in a 60-year-old woman with familial Mediterranean fever

Constanze Trostel et al. Wien Med Wochenschr. 2022 Nov.

Abstract
in English, German

We here report on a 60-year-old woman with familial Mediterranean fever (FMF) who developed cognitive impairment 16 years after initial diagnosis. On MRI, a new extensive white matter lesion in the right frontal lobe with mild local mass effect but without contrast enhancement was detectable and classified as a tumefactive lesion. Additional MR spectroscopy showed markedly increased choline levels accompanied by a significant lactate peak, highly suggestive of a low-florid demyelinating process. Although diffuse central nervous system (CNS) lesions have been described in single FMF cases, tumefactive lesions have not been observed in FMF patients without concomitant multiple sclerosis. In summary, this case highlights rare differential diagnoses of atypical, inflammatory CNS lesions and the clinical utility of MR spectroscopy.

Die Autoren berichten in dem vorgestellten Fall von einer 60-jährigen Frau mit vorbekanntem familiärem Mittelmeerfieber (FMF), die 16 Jahre nach Diagnosestellung subakut kognitive Defizite entwickelt hatte. In der Bildgebung mittels Magnetresonanztomographie (MRT) zeigte sich als mögliche Erklärung dafür eine neue, frontal rechts gelegene Läsion mit leichtem Masseneffekt, aber ohne Kontrastmittelaufnahme, die als tumefaktive Läsion eingestuft wurde. Eine ergänzende MR-Spektroskopie zeigte einen deutlich erhöhten Cholin-Peak zusammen mit einem Laktat-Peak, was einen niedrigfloriden demyelinisierenden Prozess nahelegte. Auch wenn diffuse Läsionen des zentralen Nervensystems (ZNS) bei FMF vorbekannt sind, so wurden bislang tumefaktive Läsionen bei FMF ohne begleitende Multiple Sklerose nicht beschrieben. Zusammenfassend werden anhand dieses Falls seltene Differenzialdiagnosen von atypischen ZNS-Läsionen und der klinische Nutzen der MR-Spektroskopie hervorgehoben.

Keywords: Demyelination; Familiar Mediterranean fever; MR spectroscopy; Multiple sclerosis; Tumefactive CNS lesion.

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Conflict of interest statement

C. Trostel, K. Laichinger, T.-K. Hauser, S. Saur, M. Krumbholz, J. Henes, U. Ziemann, and M.C. Kowarik declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Tumefactive, demyelinating central nervous system lesion in MRI and MR spectroscopy transverse fluid-attenuated inversion recovery (FLAIR) image. Image (a) shows extensive T2 hyperintensity of the right frontal lobe with a maximum range of 6.2 cm. No associated contrast enhancement or diffusion restriction could be detected (disease exacerbation > 12 months before current MRI). Image (b) shows MR spectroscopy using chemical shift imaging with an increase of choline (Cho), normal N‑acetyl aspartate (NAA), and a characteristic negative double peak at 1.3 ppm, representing lactate. The marked increase of choline accompanied by the lactate peak is highly suggestive of a low-florid demyelinating process
See this image and copyright information in PMC

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