A PRACTICAL APPROACH TO BOURNEVILLE TUBEROUS SCLEROSIS

Objectives: The present study aims to describe the clinical and imagistic characteristics in the evolution of tuberous sclerosis.

Methods: For that, a statistical retrospective and prospective study involving this disease was designed. From a total number of e 16 986 patients with neurological problems admitted in clinic from 1996 to 2005, the authors selected a group of 25 children with tuberous sclerosis. All cases were evaluated by clinical and neurological examination, EEG, imagistic assessments (radiography, ultrasonography, computed tomography, magnetic resonance scan) and psychometric evaluation. Selected and presented cases were of particular medical interest, due to the atypical onset, the unexpected response to medication or even to their evolution and prognosis.

Results: Establishing the diagnosis of tuberous sclerosis is a difficult task, confirmed at various ages (range from 5 month to 16 years). The authors compare the age at the onset of the first clinical manifestations and the age when the diagnosis was established. They quantify the main clinical aspects (cutaneous and visceral lesions, neurological impairments). Cutaneous lesions were present in 96% of the patients (hypomelanic maculae in 88%, facial angiofibroma in 36%, nail fibromas in 20%, Shagreen spots in 4%, frontal placards in 4%), while visceral lesions were present in 64% of the patients (cardiac involvement – rhabdomyoma in 36%, renal involvement – renal cysts in 24%, ocular involvement – retinal hamartomas in 8% and optic nerve hamartomas in 4%). There was no diagnosis of lymphoangioleiomyoma, a specific pulmonary lesion. 96% of the patients had neurological problems (various types of seizures, severe mental retardation, behavior anomalies, sleep disturbances). Neuroimagistic assessments identified cerebral calcifications in 96% of the patients. Seizures response to treatment was also evaluated.

Conclusion: The authors underline the various modalities of clinical presentation at the onset of the disease that could allow an early diagnosis and institution of the proper therapy. Tuberous sclerosis patient develop, in time, severe mental retardation, severe behavior anomalies, motor deficits, organic seizures, visceral complications.