UNASSIGNED: Tuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems. Heart-benign tumors that result from the complex are called cardiac rhabdomyomas. Unlike hamartomas that occur in other organs, cardiac rhabdomyomas are most prevalent in infants and very young children with tuberous sclerosis complex. We present a case of a young adult with tuberous sclerosis who had an unusually late diagnosis of cardiac rhabdomyomas.
UNASSIGNED: A 22-year-old male patient of Afro-descendant, diagnosed with tuberous sclerosis complex in childhood, presented with refractory epilepsy and was treated only with lacosamide. The patient came to medical consultation due to a recent history of episodic, persistent chest pain in the sternal region, associated with physical effort. Echocardiography revealed a non-dilated left ventricle, with several rounded masses of high echogenicity without pedicles at the apical level, the largest measuring 14 × 11 mm, consistent with cardiac rhabdomyomas.
UNASSIGNED: Cardiac rhabdomyomas rarely develop in adulthood for individuals with tuberous sclerosis. These late-onset cases can exhibit various symptoms, from simple to complex presentations. Regular clinical checkups are essential for adults with tuberous sclerosis complex.

BACKGROUND: Subependymal giant cell astrocytoma is a benign brain tumor that occurs in patients with tuberous sclerosis complex. Surgical removal is the traditional treatment, and expert opinion is strongly against the use of radiotherapy. Recently, success has been reported with the mTor inhibitor everolimus in reducing tumor volume, but regrowth has been observed after dose reduction or cessation.
METHODS: We present the case of a 40-year-old Asian female patient treated successfully for growing bilateral subependymal giant cell astrocytoma with fractionated stereotactic radiotherapy before everolimus became available. After a follow-up of 8 years, everolimus was administered for renal angiomyolipoma and the patient was followed up until 13 years after radiotherapy. Successive magnetic resonance imaging demonstrated an 80% volume reduction after radiotherapy that increased to 90% with everolimus. A review of the literature was done leveraging Medline via PubMed, and we assembled a database of 1298 article references and 780 full-text articles in search of evidence for contraindicating radiotherapy in subependymal giant cell astrocytoma. Varying results of single-fraction radiosurgery were described in a total of 13 cases. Only in two published cases was the radiation dose of fractionated radiotherapy mentioned. One single publication mentions an induced secondary brain tumor 8 years after whole-brain radiotherapy.
CONCLUSIONS: There is no evidence of contraindication and exclusion of fractionated radiotherapy in treating subependymal giant cell astrocytoma. Our experience demonstrates that subependymal giant cell astrocytoma, as other benign intracranial tumors, responds slowly but progressively to radiotherapy and suggests that fractionated stereotactic radiotherapy holds promise to consolidate responses obtained with mTor inhibitors avoiding regrowth after cessation.

UNASSIGNED: Perivascular epithelioid cell tumors (PEComa) are rare tumors of mesenchymal origin that exhibit perivascular epithelioid cell phenotype. One of its most common localizations is uterus, whereas only a few studies reported PEComa localization as liver. There is a correlation between the presence of PEComa and tuberous sclerosis complex (TSC). TSC is a rare disease which leads to the development of mostly non-cancerous tumors in various organs. We would like to present a case of a kidney transplant recipient with a PEComa detected post-transplant in the liver.
UNASSIGNED: A 27-year-old patient, 3 years after kidney transplantation (KTx) due to chronic renal failure in the course of autosomal dominant polycystic kidney disease and concomitant TSC, was admitted to the Clinic and Department of General and Transplant Surgery for abnormal findings in computed tomography (CT). A CT scan was conducted for oncological follow-up after a kidney transplant (KTx) because before the transplantation, a small cystic lesion measuring 7 mm in diameter was removed from the donor kidney and diagnosed as papillary renal cell carcinoma (PRCC). Two tumors in the liver were detected - one 27mm in diameter in segment VII/VIII and the other 8mm in diameter in segment II/III. Because of typical radiological signs hepatocellular carcinoma was suspected, but the serum level of alpha fetoprotein was within normal limits and liver function was preserved. The intraoperative biopsy and the radiofrequency ablation (RFA) of the larger tumor were performed three months later. In the histopathological examination benign PEComa (HMB45 +, Melan A +) was detected.
UNASSIGNED: The oncological surveillance made it possible to detect liver lesion in early stage and in 3,5-year follow-up no sign of recurrence of PEComa was found. This case is the second to show RFA as treatment method of liver PEComa and first in kidney transplant recipient.

22-year-old male diagnosed with Tuberous Sclerosis Complex (TSC), a genetic disorder characterized by benign tumors in various organs, with a focus on neurological implications. Central to the study is the development of Subependymal Giant Cell Astrocytomas (SEGAs), leading to hydrocephalus in the patient. The diagnosis of TSC was made in the patient\'s childhood, and he was monitored regularly. The study highlights a significant growth in a subependymal nodule, leading to monoventricular hydrocephalus. MRI scans played a crucial role in identifying the progression of SEGAs and the subsequent hydrocephalus. The treatment approach involved endoscopic surgical removal of the SEGA, with histopathology confirming the diagnosis. Post-surgical outcomes over an eight-year follow-up period showed a normalization in ventricular size and the stability of other subependymal nodules, without any complications. This case underscores the importance of regular monitoring for TSC patients, early intervention for complications like hydrocephalus, and the need for a multidisciplinary treatment approach. The case study provides valuable insights into the management of neurodevelopmental disorders and the complexities surrounding TSC and SEGAs.
22 metų vyrui diagnozuotas tuberozinės sklerozės kompleksas (TSC) – genetinis sutrikimas, kuriam būdingi nepatogeniniai įvairių organų navikai, daugiausia dėmesio skiriant neurologinėms pasekmėms. Pagrindinė tyrimo tema - subependiminių gigantinių ląstelių astrocitoma (SEGA), dėl kurios pacientui išsivystė hidrocefalija. TSC diagnozė buvo nustatyta pacientui vaikystėje, jis buvo reguliariai stebimas. Tyrime išryškėja žymus subependiminio mazgelio augimas, sukėlęs monoventrikulinę hidrocefaliją. MRT tyrimas atliko lemiamą vaidmenį nustatant SEGA progresavimą ir vėliau atsiradusią hidrocefaliją. Gydymo metodas apėmė endoskopinį chirurginį SEGOS pašalinimą, o diagnozę patvirtino histopatologinis tyrimas. Pooperaciniai rezultatai per aštuonerių metų stebėjimo laikotarpį parodė, kad skilvelio dydis normalizavosi, o kiti subependiminiai mazgai išliko stabilūs ir nekilo jokių komplikacijų. Šis atvejis pabrėžia, kaip svarbu reguliariai stebėti TSC sergančius pacientus, anksti įsikišti dėl tokių komplikacijų, kaip hidrocefalija, ir taikyti daugiadisciplininį gydymo metodą. Atvejo tyrimas suteikia vertingų įžvalgų apie neurologinių raidos sutrikimų gydymą ir su TSC ir SEGA susijusius sudėtingus klausimus.

暂无摘要。

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the development of benign tumors in any organ system with significant clinical implications in morbidity and mortality. In rare instances, patients with TSC can have malignant tumors, including renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (PNET). It is considered a hereditary renal cancer syndrome despite the low incidence of RCC in TSC patients. TSC is typically diagnosed in prenatal and pediatric patients and frequently associated with neurocognitive disorders and seizures, which are often experienced early in life. However, penetrance and expressivity of TSC mutations are highly variable. Herein, we present a case report, with associated literature, to highlight that there exist undiagnosed adult patients with less penetrant features, whose clinical presentation may contain non-classical signs and symptoms, who have pathogenic TSC mutations.
METHODS: A 31-year-old female with past medical history of leiomyomas status post myomectomy presented to the emergency department for a hemorrhagic adnexal cyst. Imaging incidentally identified a renal mass suspicious for RCC. Out of concern for hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, the mass was surgically removed and confirmed as RCC. Discussion with medical genetics ascertained a family history of kidney cancer and nephrectomy procedures and a patient history of ungual fibromas on the toes. Genetic testing for hereditary kidney cancer revealed a 5\'UTR deletion in the TSC1 gene, leading to a diagnosis of TSC. Following the diagnosis, dermatology found benign skin findings consistent with TSC. About six months after the incidental finding of RCC, a PNET in the pancreatic body/tail was incidentally found on chest CT imaging, which was removed and determined to be a well-differentiated PNET. Later, a brain MRI revealed two small cortical tubers, one in each frontal lobe, that were asymptomatic; the patient\'s history and family history did not contain seizures or learning delays. The patient presently shows no evidence of recurrence or metastatic disease, and no additional malignant tumors have been identified.
CONCLUSIONS: To our knowledge, this is the first report in the literature of a TSC patient without a history of neurocognitive disorders with RCC and PNET, both independently rare occurrences in TSC. The patient had a strong family history of renal disease, including RCC, and had several other clinical manifestations of TSC, including skin and brain findings. The incidental finding and surgical removal of RCC prompted the genetic evaluation and diagnosis of TSC, leading to a comparably late diagnosis for this patient. Reporting the broad spectrum of disease for TSC, including more malignant phenotypes such as the one seen in our patient, can help healthcare providers better identify patients who need genetic evaluation and additional medical care.

Subependymal giant cell astrocytoma (SEGA) is a rare circumscribed astrocytic glioma that occurs in approximately 25% of all tuberous sclerosis (TSC) cases. Herein, we discuss an atypical presentation of SEGA, including the genetic alterations, impact on clinical presentation, and the determinants of each medical and surgical treatment option. A 14-year-old girl presented with intermittent headache and a right intraventricular mass originating near the foramen of Monro. The tumor\'s proximity to critical structures necessitated maximum safe resection, which improved her symptoms. Histological findings indicated SEGA, and genetic sequencing revealed a TSC2 mutation. However, complete clinical and radiological evaluations failed to reveal TSC. Two months later, a new subependymal nodule was incidentally found. She had a recurrent left occipital horn lesion and diffuse smooth leptomeningeal enhancement with no spine drop metastases. She was administered everolimus as the tumor was considered unresectable. Subsequent imaging revealed a reduction in both residual and new lesions.

Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by hamartomatous growths with unpredictable progression. Diagnosing and managing neonatal tuberous sclerosis can be challenging. We report a rare case of a 30-day-old male born out of a non-consanguineous marriage who presented with poor suckling and persistent abnormal body movement, required prolonged intensive care, and was diagnosed with tuberous sclerosis with multisystem involvement.

Subependymal giant cell astrocytoma (SEGA) represents a benign brain tumor occurring in 5-20% of individuals diagnosed with tuberous sclerosis complex (TSC), serving as a major diagnostic criterion. The presence of SEGA in a patient often prompts consideration of TSC as a probable diagnosis, given its unique association with this disorder. Typically, only one additional major criterion or two minor criteria are necessary to fulfill the diagnostic criteria for TSC. However, in rare instances, SEGA may manifest in patients without clinical features of TSC, termed solitary SEGA. The occurrence of solitary SEGA in patients lacking both clinical manifestations of TSC and genetic confirmation is extremely rare. Furthermore, the presentation of SEGA with intratumoral bleeding is exceedingly uncommon. Here, we presented a case of bleeding solitary SEGA in non-TSC adolescent who underwent surgery and has remained free of disease for a minimum of 3 years. Genetic analysis of peripheral blood and tumor tissue yielded negative results for TSC-related mutations. While SEGA occurrence in non-TSC patients is uncommon, it remains one of the possible diagnoses of intraventricular tumors. However, comprehensive genetic and physical evaluations are imperative to confirm the TSC status and guide further investigations and follow-up appropriately.

Renal angiomyolipoma (AML) is a rare benign tumor of the kidney that can occur as a sporadic lesion or a part of tuberous sclerosis. A 77-year-old female patient with a history of hypertension, hyperlipidemia, and an unclear history of left nephrectomy in 1999 presented with progressive shortness of breath and palpitations. Her vital signs showed elevated blood pressure, and the examination was benign and non-focal. A work-up showed multiple lesions in her lungs and right kidney, representing lymphangioleiomyomatosis. The patient was diagnosed with tuberous sclerosis and was followed up by pulmonology and nephrology. She underwent embolization of the renal AML, after which her blood pressure (BP) was more controlled, and she reported feeling well and symptom-free. Renal AML, as a part of tuberous sclerosis, is a rare cause of secondary hypertension. Embolization of AML is effective in controlling BP.