Results 21 to 30 of about 28,093 (237)
A rare case of tuberous sclerosis complex-associated renal cell carcinoma
South African Journal of Radiology, 2022 Renal cell carcinoma is rarely described in paediatric patients with tuberous sclerosis complex. This report describes a case of an 11-year-old male with tuberous sclerosis-associated renal cell carcinoma.
Humphrey Mapuranga +5 more
doaj +1 more source
Journal of Patient-Reported Outcomes, 2018 Background Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors in multiple organs, including non-cancerous kidney lesions known as renal angiomyolipomas.
Anne M. Rentz +8 more
doaj +1 more source
Tuberous Sclerosis Complex in a 17-month-old: A Case Report
Journal of Nepal Medical Association, 2023 Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e.
Sarjan K.C. +5 more
doaj +1 more source
The diagnosis to be kept in mind in resistant epilepsy; tuberous sclerosis
Northwestern Medical Journal, 2022 Drug-Resistant Epilepsy is the continuation of seizures despite administering two tolerable antiepileptic drugs at the appropriate dose and time, which are selected according to the type of seizure.
Fatih Kurt, Recep Eröz, Mustafa Doğan
doaj +1 more source
Concomitant diagnosis of bipolar disorder and tuberous sclerosis - a case report
European Psychiatry, 2022 Introduction Tuberous sclerosis is a multisystem genetic disorder. It is associated with significant psychiatric comorbidity mainly autistic disorders, hyperkinetic disorders, depression and anxiety.
M. Santos +3 more
doaj +1 more source
Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: A case report
Case Reports in Women's Health, 2018 Cardiac tumors are rarely diagnosed in utero. Rhabdomyomas are the most common fetal cardiac tumors. They are usually diagnosed during the first year of life after obstruction of a valve orifice or a cardiac chamber; but they can be detected by ...
Emre Ekmekci +3 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction The use of herbal medical preparation (HMP) is rising among pediatric oncology patients, often to manage treatment‐related symptoms. Their effectiveness remains uncertain, and the risk of herb–drug interactions is underestimated.
Orianne Mahot +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie +8 more
wiley +1 more source
Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review
Frontiers in Oncology, 2022 Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-
Xinhe Zhang +15 more
doaj +1 more source