djamila-djahida batouche

Background-Tuberous sclerosis of Bourneville (TSB) is a rare genetic disease, transmitted in the autosomal dominant mode characterized by the development of benign tumors in different tissues: skin, kidney, heart, brain and eye. The classic triad in children includes skin spots, epilepsy and mental retardation. Méthods-The authors report a clinical sticher of an infant admitted for lateralized convulsive seizures complicated by malignant arterial hypertension and whose etiological diagnosis of tuberous sclerosis of bourneville was made in a setting etiological assessment of a malignant arterial hypertension. complicated by convulsive encephalopathy. Results- A . O 36 months old, the eldest of siblings of 02, of non-consanguineous parents. Psychomotor development was normal. A notion of epilepsy in the maternal uncle was reported in family history. The beginning of the symptomatology went back to the age of 07 months old ,by the occurrence of convulsions type syndrome WEST.02 days before admission, a state of convulsive illness motivated his transfer to the intensive care unit in May 2014. At admission: a stage IIa coma, a PA at 160 / 120 mmHg, an achromic skin placard of the sacral region, and the inner thighs.Pulmonary auscultation found some crackling rales at the two bases of the pulmonary field.An exploration report of the HTA found: on the abdomino - pelvic ultrasound a left nephromegaly. A renal scintigraphy with DMSA found a silent kidney on stenosis of the right renal artery. Blood creatinine, urine dosing of AMVs were unremarkable.Cerebral MRI revealed subependymal nodules along the lateral walls of the lateral ventricles The child was nephrectomized on the right. The histological study of the nephrectomized specimen revealed multiple angiomyolipomas in the cortex.The child was put out on day 25, under dual antihypertensive and anticonvulsant therapy.The death of the child occurred at home, 05 months following discharge of hospital, as part of a convulsive hypertensive encephalopathy refractory to treatment. Conclusions- TSB is an autosomal dominant disorder.Its diagnosis is radiological clinico.The clinical manifestation is polymorphic. The prognosis is closely related to neurological manifestations. Vigabantrin treatment proves better control of convulsions.A multidisciplinary approach would improve the therapy and quality of life of patients. Keywords Infant, convulsive encephalopathy, malignant hypertension, achromic spots, cortical tubers, renal cysts