Diagnosis, monitoring and treatment of tuberous sclerosis complex: A South African consensus response to international guidelines (original) (raw)

South African Medical Journal

Tuberous sclerosis complex (TSC) is a multi-system genetic disorder with a birth incidence around 1:5 800. [1,2] It affects ~1.5 million people around the globe with no obvious differences in prevalence based on gender or ethnicity, although epidemiological data from Africa, including South African (SA) populations, are lacking. [1,2] TSC can affect almost any organ system in the body, including the brain, heart, skin, kidneys and lungs. The greatest morbidity and mortality is associated with neurological, neuropsychiatric and renal manifestations. [2] To reduce the morbidity and mortality in TSC, evidence-based management and coordination of care across medical specialties is crucial throughout the lifespan of the patient. [2,3] TSC was first described in 1880 by the French neurologist Bourneville at the Salpetriere Hospital in Paris. Bourneville had a 15-year-old patient with severe intellectual disability and intractable epilepsy. After the death of the child, postmortem examination revealed unusual white, hard lesions on the cortical surface of the brain, and multiple small nodules lining the ventricular surface of the brain. Bourneville described these white, hard lesions as 'sclereuse tubereuse' (white, potato-like lesions) of the cerebral cortex. [2] Previously used terms for TSC include 'Bourneville's disease' and 'epiloia' , but use of these terms is now strongly discouraged. The early diagnostic criteria, first documented in 1979, were based purely on the systematic clinical observations of Dr Manuel R Gomez, a physician at the Mayo Clinic in Rochester, USA. [4,5] Gomez identified that patients with TSC had a wide range of physical manifestations across almost all organ systems, including the brain, skin, heart, eyes, kidneys and lungs, and that multi-system involvement was highly variable between patients. He also recognised (in contrast to This open-access article is distributed under Creative Commons licence CC-BY-NC 4.0.