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AN UNUSUAL CASE OF TUBEROUS SCLEROSIS (TS)
By: Obada Al-Jayyousi
Case: A 37-year-old female with mild abdominal pain performed a routine abdominal ultrasound that showed multiple, nodular and mainly hyperechoic renal lesions with regular margins and vascular signal on color Doppler indicating multiple angiomyolipomas, “AMLs� (Fig.1). The upper pole of the right kidney had the largest lesion with a diameter of 60mm. Physical examination revealed six rounded, reddish papules at the right nasal wing corresponding to the relapse of angiofibromas that have been surgically removed three years earlier. Neurological symptoms as well as personal and family history were negative. An MRI was then performed where several lesions were detected on both kidneys supporting the diagnosis of multiple and bilateral renal angiomyolipoma with the largest lesion on the upper pole of the right kidney showing some extent of hemorrhagic content (Fig.2). Furthermore, a contrast-enhanced brain MRI was performed that showed a single lesion in the cortical-subcortical side of right parieto-occipital cerebral cortex consistent with a cortical-subcortical tuber (Fig.3). Blood tests were normal besides an initial mild proteinuria. Otherwise, no remarkable findings were found (1). Discussion: Tuberous sclerosis is a rare inherited autosomal dominant disorder (with around 2 million cases worldwide) (2) with many manifestations in multiple organs, mainly hamartomas. It can be defined as a triad of: sebaceous adenoma, mental retardation, and seizures. CNS involvement is very common in the context of TS, occupying 85% of the cases (1). As mentioned earlier, the patient had a cortical-subcortical tuber in the right parieto-occipital side which is a hamartoma. Moreover, cutaneous involvement is one of the common manifestations of TS. This includes, pigmentation defects of the skin and nail fibrosis. Other manifestations could include liver and kidney manifestations. AMLs are the most common urinary system manifestation of TS. In fact, AMLs in female patients with TS are mainly found in those in their thirties and forties. In addition to that, AMLs show a higher female prevalence than males possibly suggesting hormonal influence to some extent. The diagnostic criteria of TS were finalized in a 1998 conference held by the Tuberous Sclerosis Association and the National Institute Of Health followed by a Consensus conference in 2012 (3)(4).TS definitive diagnosis requires at least two major criteria or one major criteria followed by two or more minor criteria.
