Introduction:

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multisystem involvement. In this disease, abnormalities are found in the skin, eye, central nervous system (CNS), kidney, heart, and lung.

Objective:

To describe the clinical characteristics of pediatric patients with TSC.

Material and methods:

Retrospective review of 12 patients diagnosed with TSC treated over a 10-year period (2010-2020) in a tertiary hospital in Bogotá, Colombia. Clinical and magnetic resonance imaging (MRI) data were recorded.

Results:

Seven patients were women. The mean age at diagnosis was 16 months. Only three patients had a history of a first-degree relative with the same condition. The 12 patients had dermatological alterations, 10/12 (83%) patients presented some type of cognitive-behavioral disorder, 7/12 with seizures, and 5/12 ophthalmological problems. In 11/12 patients, the MRI showed some abnormality, such as subependymal nodules and cortical dysplasia.

Conclusions:

The diagnosis of TSC is based on clinical criteria, mainly including neurological and dermatological disorders. In these patients, interdisciplinary management is required, since it is a multisystemic disease.

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