Figure 9: Axial computed tomography of the brain, illustrating cerebral
white matter radial migration lines (black arrow).
Interdepartmental discussion was made and she was diagnosed as a case of
TSC as she met the diagnostic criteria of definite TS. Patient along
with her family were counselled regarding the condition, possibility of
another bleeding per urethra which might be fatal and probable need for
nephrectomy. Despite the counselling, she opted for medicinal care with
regular screening and follow-up for her ailment. During discharge her
vitals were stable and her hemoglobin was 12.2mg/dl.
Discussion
Tuberous sclerosis is a rare inherited neurocutaneous syndrome affecting
multiple organ system that can have many manifestations associated with
severe morbidity and potential mortality. TS is due to the mutation of
genes encoding hamartin and tuberin which leads to the uncontrolled
growth of hamartomas or tubers in multiple organs of the body. Clinical
manifestations of the condition have varied age predilection and extent
to which one or the other organ systems are involved and severity are
also diverse.
Diagnostic criteria given by International TSC Clinical Consensus Group
in 2012 clearly mentioned the importance of independent genetic
diagnostic criteria and clinical diagnostic criteria. It is to be noted
that in about 10% to 15% of the patient meeting the clinical
diagnostic criteria have no mutation identified by conventional genetic
testing. This shows the importance of other clinical criteria in
resource poor setting where genetic testing is difficult to attain for
most of the patients. Also, about two-thirds of the cases are sporadic
which might explain absence of family history or features suggestive of
TS in any member of family in this patient.
Findings in TS which are a part of the clinical diagnostic criteria are
represented on the Table 1.
Table 1: Findings of Tuberous Sclerosis in different organ system of the
body classified as a part of clinical diagnostic criteria