Tuberous sclerosis complex - a case report / Kompleks tuberozne skleroze – prikaz slučaja

Abstract

Tuberous sclerosis complex is a multisystem, autosomal dominant disorder affecting children and adults, which results from mutations in either of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin). Tuberous sclerosis complex often causes disabling neurologic disorders, including epilepsy, mental retardation, and autism. Major features of the disease include dermatologic manifestations, such as facial angiofibromas, renal angiomyolipomas, and pulmonary lymphangiomyomatosis. We report a 20-year-old woman with epilepsy and subnormal intelligence, who was admitted for evaluation of multiple facial papules that have gradually increased in number over the past 15 years. She had been previously diagnosed with tuberous sclerosis complex based on findings of cardiac ventricular rhabdomyomas, tuberosclerotic nodules of glial proliferation in the cerebral cortex, and renal angiomyolipoma. The facial papules were angiofibromas, confirming the clinical presentation of tuberous sclerosis complex. Detailed examination of the skin and mucosa revealed Shagreen patches, nontraumatic subungual and gingival fibroma, all features of tuberous sclerosis complex. A multidisciplinary team approach was used for diagnosis and medical care of tuberous sclerosis complex in order to treat many organ systems affected by tuberous sclerosis in our patient. The patient received antiepileptic medications, while rapamycin was recommended.