Tuberous sclerosis - Bourneville-Pringle disease

It is an inherited genetic disorder that affects the brain, peripheral nervous system, skin, heart, kidneys and lungs. It is due to a genetic mutation; if one of the parents suffers from it, their offspring have a 50% chance of inheriting the disease.

Symptoms may appear at birth or after a few months: skin alterations in the form of white spots, red "patches" or "orange peel-like" areas, developmental delay, intellectual disability, epileptic seizures, brain tubers, cavities in the dental enamel, a sunken palate, small lumps around nails, and/or tumours in the kidneys or lungs. Most tumours are benign, although some cerebral or renal ones may become cancerous.

A diagnosis is reached when the clinical symptoms become apparant, and is confirmed through a CT-scan of the brain or abdomen, an MRI of the brain, a kidney ultrasound, or a DNA test.

The treatment should be personalised based on the symptoms that each person suffers (special education, drugs, laser, surgery, etc). Cases with mild manifestations have a good prognosis, as opposed to cases with disabilities and repetitive epileptic seizures that will require lifelong assistance.

Genetic counselling is recommended for people who want to conceive and have a history of tuberous sclerosis. If you have a family history of this disease or notice any of the symptoms previously mentioned in your offspring, contact a specialist.