Tuberous sclerosis complex: Diagnostic role of magnetic resonance imaging

Abstract

Tuberous sclerosis complex (TSC) is a well-known clinical entity, characterized by facial angio-fibroma, shagreen patch, and hypo-melanotic, and confetti-like skin lesions. An exquisite fresh case is being narrated, emphasizing its microscopic pathology. The role of magnetic resonance imaging of the brain, in particular, is highlighted to define the large variety of neurological abrasions for determining its future progression.

Diagnóstico Tardio de Esclerose Tuberosa

“…Tuberous sclerosis complex is a rare entity that has a wide clinical spectrum of manifestations, with many patients having minimal signs and symptoms and no neurologic disability 5,6 . In fact, the classical Vogt's triad of adenoma sebaceum, seizures and mental retardation, described by Heinrich Vogt in 1908, is seen in less than half of the patients 5,8,9 .…”

“…Tuberous sclerosis complex is a rare entity that has a wide clinical spectrum of manifestations, with many patients having minimal signs and symptoms and no neurologic disability 5,6 . In fact, the classical Vogt's triad of adenoma sebaceum, seizures and mental retardation, described by Heinrich Vogt in 1908, is seen in less than half of the patients 5,8,9 . The variability of the clinical manifestations of TSC, including asymptomatic or minimally symptomatic adults, reinforces the importance of a detailed physical examination combined with several imaging modalities in achieving a correct diagnosis 6 .…”

“…TSC is also associated with a wide variety of cognitive, behavioural and psychiatric manifestations. Brain MRI plays an important role in the diagnosis of TSC, allowing the identification of typical cerebral lesions such as tubers, subependymal nodules or subependymal giant cell astrocytomas, which may be present even in asymptomatic patients 2,3,5,9 . Skin lesions are also a common feature of TSC, being present in more than 90% of patients; these are generally detected during childhood or adolescence, although lesions can also appear in adulthood 6 .…”

“…Despite this, clinical diagnostic criteria are important because genetic testing cannot identify the mutation in up to 25% of patients 7 . The expanded phenotype is known as the tuberous sclerosis complex (TSC) to emphasize the multiorgan involvement, characterized by the formation of hamartomatous lesions in the brain, heart, skin, kidney, lung, and other organs 4,5 . The incidence of TC is approximately 1:6000 newborns and the diagnosis typically occurs during childhood.…”