New staging criteria predicting m-tor inhibitors treatment effect of renal angiomyolipoma in tuberous sclerosis complex patients.

Background: We aimed to launched new staging criteria to predict mTOR inhibitors treatment effect of renal angiomyolipomas (r-AMLs) in TSC patients.

Methods: 40 TSC patients with 69 r-AMLs were divided into two groups based on the efficacy of 6-month mTOR inhibitor treatment. Epidemiological data, therapeutic response, and predictive factors of enrolled patients were collected and analyzed.

Simultaneous Robotic-Assisted Laser Thermal Ablation of Multiple Cortical Tubers for Drug-Resistant Epilepsy in a 17-Year-Old Patient with Tuberous Sclerosis Complex.

Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) is a new minimally invasive treatment for tuberous sclerosis complex (TSC)-associated epilepsy in children. This video describes a case of a 17-year-old girl with TSC-associated drug-resistant epilepsy treated with robotic-assisted MRgLITT. In our case, MRgLITT was safe and effective in simultaneous targeting of multiple epileptic tubers in 1 single procedure, leading to a marked decrease in seizure frequency.

Neoadjuvant everolimus in renal angiomyolipoma with or without tuberous sclerosis complex: Results from a multicenter, retrospective study.

Objectives: To assess the efficacy and safety of preoperative neoadjuvant everolimus in renal angiomyolipomas (AML) patients with or without Tuberous Sclerosis Complex (TSC).

Materials And Methods: This multi-institutional retrospective study enrolled renal AML patients who underwent partial nephrectomy (PN) or total nephrectomy after receiving at least 1 month of pre-operative everolimus. Imaging evaluations were collected before and after treatment, along with demographic, surgical, and follow-up information.

Hereditary renal mass syndromes: a pictorial review.

Hereditary renal mass syndromes, although rare, account for at least 3-5% of kidney cancers and significantly impact affected families. Accurate diagnosis and management by radiologists are crucial as these syndromes often present at imaging with both renal and extra-renal manifestations. The radiologist may be the first to recognize these stigmata at imaging, some of which satisfy major features for diagnosis and obviate the need for genetic testing.

Atypical case of tuberous sclerosis with isolated neurologic findings: A case report.

Tuberous sclerosis (TSC) is an autosomal dominant neurocutaneous disorder. This case highlights rare isolated neurologic finding in a TSC patient emphasizing the need for heightened suspicion even in the absence of any cutaneous findings and family history.

Impact of seizure onset zone and intracranial electroencephalography ictal characteristics on epilepsy surgery outcomes in tuberous sclerosis complex.

Ninety percent of tuberous sclerosis complex (TSC) patients have seizures, with ∼50 % developing drug refractory epilepsy. Surgical intervention aims to remove the seizure onset zone (SOZ). This retrospective study investigated the relationship of SOZ size, ictal pattern, and extent of resection with surgical outcomes.

Endovascular Treatment of a Bilateral, Ruptured Angiomyolipoma in a Patient With Tuberous Sclerosis Complex.

A renal angiomyolipoma (AML) is a rare, usually benign tumor consisting of smooth muscle cells, abnormal blood vessels, and fat tissue. Although AMLs are often asymptomatic, they can present with flank pain, hematuria, and a palpable mass in the abdomen. A significant complication involves rupture and hemorrhage into the retroperitoneal cavity, which can be life-threatening.

Multimodal Analysis of the Retinal Manifestations of Tuberous Sclerosis Complex: A Case Series.

Background And Objective: We used a multi-modal imaging approach including fundus fluorescein angiography (FFA) to assess the retinal lesions in tuberous sclerosis complex (TSC) and evaluate their correlation with intracranial tuber burden on magnetic resonance imaging (MRI).

Patients And Methods: Participants with TSC underwent bilateral fundus photography, optical coherence tomography (OCT), infrared (IR) imaging, and FFA. Participants' most recent MRI brain scans were analyzed to determine intracranial tuber load.

Radiotherapy for subependymal giant cell astrocytoma: time to challenge a historical ban? A case report and review of the literature.

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.