TUBEROUS SCLEROSIS IN THE EARLY CHILDHOOD, DIAGNOSTIC CRITERIA, TWO CLINICAL CASES

Objectives: Tuberous sclerosis is very difficult disease and include multisystem disorder. The clinical manifestation is possibility in the early childhood.

Methods: We had in to the Department of Neurology 2 patients. They were born in time and had asphyxia. The first girl had cardiac rhabdomyomas (d=9–10mm) since born. She had normal development, but in the 8-th month starting seizures. They were after awakening: tonic eyes deviation, myoclonic eyelids and nod of the head, series along three minutes, frequency about three-four in the day. The second girl had seizures since 2-month-old: unilateral clonic phenomena localized to the face and limbs along two minutes, frequency about twenty in the day; she had normal development also. We began to study their

Results: Electrocardiogram: both girls had supraventricular and ventricular extrasystoles; Echocardiographic study: the first girl had cardiac rhabdomyomas and they were regression (d=6–6.5mm now); the second was normal. MRI: both had cortical tubers, subependymal nodyles. EEG: first patient had on the awake interictal EEG the focal abnormality in the temporo-occipital region, second – multifocal asynchronous pattern of spike discharges and irregular slowactivity. Skin: first girl had facial angioma since 5-month-old; second- hypomelanotic macules (about ten) since born. Renal ultrasonography: both without Renal Angiomyolipomas. Ophthalmological: both without Retinal Hamartroma.

Conclusion: Both patients had clinical diagnostic criteria for tuberous sclerosis complex. Their diseases are beginning. We don't know clinical evolution yet.