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Revista Cubana de Pediatría

Print version ISSN 0034-7531On-line version ISSN 1561-3119

Abstract

FERNANDEZ CONCEPCION, Otman; GOMEZ GARCIA, Ariel  and  SARDINAZ HERNANDEZ, Norberto. Esclerosis Tuberosa. Revisión. Rev Cubana Pediatr [online]. 1999, vol.71, n.3, pp.160-167. ISSN 0034-7531.

An updated review on the clinical, radiological and neuropathological pecularities of tuberous sclerosis is made. This is the most representative of the neurocutaneous diseases that evolve with hypochromic stains and is the second in frequency of pharcomatosis. The hypochromic stains associated with infantile spasms or cardiomegaly in infants and the evidence of epileptic seizures and facial angiofibromas in late childhood are the habitual forms of presentation of this disease, although it is not rare to observe oligosymptomatic forms in adults. The subepindemal nodules, the cortical tuberosities and the astrocytomas of giant cells are the characteristic neuropathological manifestations of this process that may be radiologically identified by CAT and cranial magnetic resonance imaging. The early diagnosis allows to give genetic counseling to parents, to periodically evaluate the cases, and to identify the possible complications early.

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