Abstract

GARCIA SANCHEZ, Paula; EL KADAOUI CALVO, María  and  SAEZ GALLEGO, Blanca. Seizures and skin lesions: report of a case of tuberous sclerosis. Rev Pediatr Aten Primaria [online]. 2018, vol.20, n.79, pp.253-256. ISSN 1139-7632.

Tuberous sclerosis is a neurocutaneous syndrome characterized by the presence of hamartomas involving many organs. It presents autosomal dominant inheritance, although more than 60% of cases are sporadic, resulting from new mutations. Clinical presentation is variable, including cutaneous, neurological, renal, cardiac and ophthalmic manifestations. The diagnosis is based on genetic study and clinical criteria. Treatment is directed to the control of its neurological symptoms and other systemic manifestations. We describe the case of a 4-year-old girl sent to the Emergency Department with short-term seizures during one week and with skin lesions typical of tuberous sclerosis. Neuroimaging showed the characteristic cerebral tubers. We review the main aspects of this disease.

Keywords : Seizures; Tuberous sclerosis; Hamartoma.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )