Coexistence of SLE, tuberous sclerosis and aggressive natural killer-cell leukaemia: Coincidence or correlated?

S Psarelis, E Nikiphorou - Lupus, 2017 - journals.sagepub.com
S Psarelis, E Nikiphorou
Lupus, 2017journals.sagepub.com
We read with great interest the article by Olde Bekkink et al. 1 discussing common
pathophysiological mechanisms between systemic lupus erythematosus (SLE) and tuberous
sclerosis. We would like to take this opportunity to present the case of a 26 year-old lady with
known tuberous sclerosis referred to rheumatology following positive serology with a high
titre of anti-dsDNA antibodies.The diagnosis of tuberous sclerosis was given 2 years back,
following the discovery of an intraventricular lesion consistent with a sub-ependymal giant …
We read with great interest the article by Olde Bekkink et al. 1 discussing common pathophysiological mechanisms between systemic lupus erythematosus (SLE) and tuberous sclerosis. We would like to take this opportunity to present the case of a 26 year-old lady with known tuberous sclerosis referred to rheumatology following positive serology with a high titre of anti-dsDNA antibodies.
The diagnosis of tuberous sclerosis was given 2 years back, following the discovery of an intraventricular lesion consistent with a sub-ependymal giant cell astrocytoma, along with multiple small sub-ependymal nodules, and cortical or subcortical tubers, some of which contained calcification. There were also multiple renal angiolipomas on a MRI scan of the upper abdomen. Despite the genetic tests for the TSC1 or TSC2 tuberous sclerosis genes being negative, a clinical diagnosis was made.
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