Sclérose tubéreuse de Bourneville: importance de l’anamnèse et de la clinique

Tuberous sclerosis complex (TSC) is a neurocutaneous multisystemic syndrome most commonly affecting the skin, the brain, the kidneys, the lungs and the eyes. The diagnosis is based on clinical characteristics; 90% of patients have skin lesions and seizures are the initial symptom in 80% of patients. Patients with STB often show a high incidence of neuropsychiatric symptoms, including mental retardation, autism and learning difficulties. Epilepsy and brain and renal tumors are treated with aggressive therapeutic and surgical approaches. We report the case of a 13-year old girl, presenting with a 1-year history of acne resistant to therapy. Clinical examination showed symmetric grouped red papules with smooth surface on the central face and the chin (A). The objective clinical examination also showed frontal fibrous plaques (A), achromic macules on the upper limbs and grayish tumors in the periungual folds of the toes (B). During a new interview, patient’s mother reported that these lesions had their onset when the patient was 5 years old, manifesting as seizures at the age of 2 years and disappearing at the age of 6 years, with good psychomotor development. The girl had a history of consanguinity but she had no other family history. Based on these major criteria, the diagnosis of Tuberous sclerosis complex was made. The patient underwent MRI of the brain showing intensely enhanced multiple bilateral subependymal and intraventricular nodules as well as signal abnormalities in the subcortical white matter at the level of the frontal, parietal and temporal area and linear abnormalities in the subcortical white matter. Thoracoabdominopelvic CT scan showed liver and renal lesions suggesting angiomyolipomas. Ophthalmologic examination, electrocardiogram and cardiac ultrasound were normal. Vascular laser treatment of angiofibromas, annual clinical monitoring and paraclinical monitoring every 3 years were proposed to the patient.