Convulsions in male infant are crucial for early diagnosis of tuberous sclerosis complex with final presentation in multiple organs: 13-year follow-up

Sažetak

Tuberous sclerosis complex (TSC) is a multisystem, autosomal-dominant inherited, neurocutaneous disease. Clinical symptoms are caused by the growth of hamartomas in many organs (brain, heart, kidney, skin, eyes, etc.). These days we use major/minor features to diagnose TSC. The disease is variably expressed and can manifest from birth to adulthood. In a 2-day-old infant, the probable diagnosis of TSC was established on the basis of ultrasonography findings of cardiac rhabodomyomas and polycystic kidneys; definitive diagnosis was set up by typical findings on brain computed tomography (CT) scan after the occurrence of non-febrile convulsions at the age of 9 months. Electroencephalography (EEG) was multifocally changed, dysrhythmic. Cutaneous manifestations were visible afterwards. Because of intractable seizures, vigabatrin was induced. Subsequently, he was seizure-free, EEG tracings showed normalization. The boy is severely mentally/physically handicapped. He has been regularly followed up for the last 13 years and the latest findings are indicative of chronic renal impairment. In conclusion, TSC should be considered in infants/children with afebrile convulsions even if no skin manifestations are present yet. To confirm the diagnosis, brain CT-scan or magnetic resonance imaging are recommended, along with seeking for other organ involvement. Deadly complications can be prevented and the patient quality of life improved by regular monitoring of TSC patients.