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Review
. 2022 Oct-Dec;68(4):236-238.
doi: 10.4103/jpgm.jpgm_1031_21.

Unusual magnetic resonance imaging findings of cystic bone lesions in congenital generalized lipodystrophy

T F T de Oliveira  1 , M R C Natal  2 , A A Teixeira  2 , B B Machado  3
Affiliations
Review

Unusual magnetic resonance imaging findings of cystic bone lesions in congenital generalized lipodystrophy

T F T de Oliveira et al. J Postgrad Med. 2022 Oct-Dec.

Abstract

Cystic bone lesions are the hallmark of skeletal abnormalities in patients with congenital generalized lipodystrophy (CGL). However, their pathophysiology is still unclear and theories about their origin remain largely speculative. This article reports on a patient with CGL and cystic bone lesions, some of them with unusual magnetic resonance imaging (MRI) findings that include elevated signal intensity on T1-weighted images and fluid-fluid levels, the latter evolving to a more "classic" cystic appearance on follow-up. Even though similar findings were first described almost 30 years ago, little attention was given to them back then; furthermore, other than the present report, no other study has performed sequential exams to follow their evolution in serial MRI. The authors conduct a review of the literature, hypothesizing that these remarkable findings may reflect an intermediate stage in the process of cystification of the abnormal bone marrow, incapable to perform adipose conversion, lending factual support to the modern theories about this issue.

Keywords: Berardinelli-Seip syndrome; bone cysts; congenital generalized lipodystrophy; fluid levels; magnetic resonance imaging.

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Conflict of interest statement

None

Figures

Figure 1
Figure 1
Coronal T1-WI (left) and STIR (right) images. Two cystic lesions occupy most of the humerus: the biggest one occupies the diaphysis and distal epiphysis (asterisks) and the second one occupies the humeral head (stars). Hypointense bone marrow (squares) is interposed between
Figure 2
Figure 2
T1-WI (left) and STIR images (right), sagittal (a) and axial (b). There are fluid levels with a hyperintense supernatant (asterisks) and a dependent portion with intermediate to low signal (stars). A small cavity is seen posteriorly (squares), filled by fluid
Figure 3
Figure 3
Follow-up MRI, T1-WI (left) and STIR (right) in the sagittal (a) and axial (b) planes. There is absence of the fluid levels previously seen in the epiphyseal lesion. The fluid filling the lesion is predominantly isointense
See this image and copyright information in PMC

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