Abstract:
Background: Tuberous sclerosis (TS) is a rare genetic disorder with an autosomal dominant pattern of inheritance, variable expressivity that causes benign tumors to grow in the brain and other vital organs such as the kidneys, heart, eyes, lungs and skin. It is caused by mutations of genes TSC1 (encodes for the protein hamartin, located on chromosome 9q34) or TSC2 (TSC2 encodes for the protein tuberin, located on chromosome 16q13.3).
Aim of the study: The importance of clinical and genetic approaches is determined by understanding the disease mechanism for these genetic conditions and its importance into establish an early clinical diagnostic.
Abstract: A 10-year-old girl reported to Central of Reproductive Health and Medical Genetics with seizures. The mother gave a history of mental retardation and epilepsy since a 3-year-old. The patient is under regular treatment for epilepsy.
The girl was born at 39 weeks of gestational age, weighed 3200 g. had 52 cm long, a cranial circumference of 32 cm. The
clinical examinations revealed white spots on the arms, lumbar region, and on the upper part of the right thorax. Multiple dark macular (confetti-like) lesions and a giant hamartoma formation were seen on the lumbosacral region of the spine. In family history was found that the first child shows similar manifestations but in a milder form. A provisional diagnosis of Tuberous Sclerosis was established by clinical manifestations. Cerebral magnetic resonance showed hyperostosis of the skull bones and cyst of septum pellucidum. A lumbosacral magnetic resonance showed massive volume formation in soft tissues with lipid-rich content.
Conclusion: It is not uncommon for patients with TS to have symptoms or signs that do not lead to an immediate diagnosis. In some cases, the diagnosis is delayed for a prolonged period of time. Early diagnosis is very important for through clinical and radiological evaluation, continuous monitoring of symptoms, family planning, genetic
counseling and reduction in morbidity and mortality rate.
