How will the conference be with international experts in this rare disease that generates non-cancerous tumors?

Pediatric Neurology Service in German Hospital Update day will be held tomorrow on tuberous sclerosis complex (TSC)Directed to Parents and health professionals. This case is rare A hereditary neurocutaneous condition With an estimated incidence of approx 1 in 6,000 individuals A global spread of about one million people.

The hallmark of this condition is progression Tumors and benign lesions In various organs, including the central nervous system. About 90% of patients experience TSC EpilepsyAnd two-thirds of the cases Heat resistant materials For standard anti-seizure medications.

People with tuberous sclerosis complex also face an increased risk of infection Learning and behavior disorders. Most patients suffer at some point in their lives from what is known as Tand (Neurological and psychiatric disorders associated with tuberous sclerosis complex), which underscores the complexity of this condition.

Specialists consider a basic approach Interdisciplinary To manage these patients with the aim of improving their overall quality of life. Moreover, early diagnosis before birth or immediately after birth has the potential Change the diagnosis of those diagnosed with TSC.

The event will witness the participation of a neurologist Darcy Krugerand global authority Director of the Tuberous Sclerosis Clinic at Cincinnati Children’s Hospital in the United Stateswho also received the 2019 Manuel R. Gomez Award from the Tuberous Sclerosis Alliance “for significant contributions to the research or treatment of patients with tuberous sclerosis complex.”

Also participating: Dr. Patricia Vega, HIBA (Ramos Mejía Hospital), Dr. Julieta Erman (British Hospital), Dr. Federico Ramos (San Juan de Dios Hospital – Barcelona, ​​Spain), Dr. Darcy A. Kruger, Dr. Santiago Flessler (Aleman Hospital), Dr. Marisol Toma (Aleman Hospital), Dr. Margarita Laralde (Aleman Hospital), Dr. Juan Botan (Aleman Hospital), and Dr. Juan Buchecha (Garrahan and Fellini Hospital).

“he tuberous sclerosis complex (TSC) that it Autosomal dominant genetic disorder, caused by a mutation in one of the TSC1 or TSC2 genes. It is mainly characterized by a disorder in brain development and the appearance of benign tumors in many organs of the body,” according to their website. orphana space that collects information on rare diseases founded in France by INSERM (French National Institute for Health and Medical Research).

Currently, from this space they highlight that “the term tuberous sclerosis complex (TSC) is preferred over tuberous sclerosis due to Variation in phenotypes and the presence of more than one disease-causing geneSince the pathology “is often accompanied by severe neurological disorders, characteristic skin lesions and a tendency to progress Hamartomas or benign tumors mainly occur in the central nervous system, retina, skin, lung, kidney and heart“, they point from said space.

“between the The most common clinical manifestations They explained that pigmentary and proliferative changes in the skin, brain malformations (subependymal nodules, tubercles), cardiac rhabdomyomas, renal angiomyomas, and pulmonary lymphangiomyomas stand out, highlighting that “the greatest morbidity and mortality rates are determined from By sharing brain functions.” The prevalence of refractory epilepsy is high.

Its diagnosis “can be very difficult due to the very different clinical manifestations even between individuals with the same mutation,” and for this reason “it is based on internationally agreed clinical diagnostic criteria, which include the most common manifestations of the disease.” However, “it has been confirmed molecularly by identification of a clearly pathogenic mutation in TSC1 or TSC2, which can be detected in 85% of cases. The remaining 15% of cases are likely due to mosaicism,” although to achieve confirmation Analyzes of different organs can be performed, where “typical lesions of the disease” can be observed.

“The different manifestations of the disease require multidisciplinary management“From the treatment of epilepsy to eventual renal or respiratory failure,” highlights Orphanet.