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