Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurocutaneous syndrome. It is manifested mainly in cutaneous lesions, epilepsy and the emergence of hamartomas in several tissues and organs. The disease sets in due to mutations in two tumor suppressor genes: TSC1 and TSC2. The authors present the case of a 33-year-old female patient registered with the Bihor County Regional Center of Medical Genetics (RCMG) since 2021 with a TSC diagnosis. She was diagnosed with epilepsy at eight months old. At 18 years old she was diagnosed with tuberous sclerosis and was referred to the neurology department. Since 2013 she has been registered with the department for diabetes and nutritional diseases with a type 2 diabetes mellitus (T2DM) diagnosis. The clinical examination revealed: growth delay, obesity, facial angiofibromas, sebaceous adenomas, depigmented macules, papillomatous tumorlets in the thorax (bilateral) and neck, periungual fibroma in both lower limbs, frequent convulsive seizures; on a biological level, high glycemia and glycated hemoglobin levels. Brain MRI displayed a distinctive TS aspect with five bilateral hamartomatous subependymal nodules associating cortical/subcortical tubers with the frontal, temporal and occipital distribution. Molecular diagnosis showed a pathogenic variant in the TSC1 gene, exon 13, c.1270A>T (p. Arg424*). Current treatment targets diabetes (Metformin, Gliclazide and the GLP-1 analog semaglutide) and epilepsy (Carbamazepine and Clonazepam). This case report presents a rare association between type 2 diabetes mellitus and Tuberous Sclerosis Complex. We suggest that the diabetes medication Metformin may have positive effects on both the progression of the tumor associated with TSC and the seizures specific to TSC and we assume that the association of TSC and T2DM in the presented cases is accidental, as there are no similar cases reported in the literature.
Background and Clinical Significance: Foreign body ingestion represents an endoscopic emergency, with a risk of organ perforation of up to 35%, where increased prevalence was noticed among people with mental disorders and institutionalized patients. Case Presentation: The patient—male, 23 years old, and institutionalized for sequelae of infantile encephalopathy—was admitted for epigastric pain and hyperemetic syndrome that began 10 days earlier. Endoscopically, 12 hard plastic foreign bodies with sharp edges and sizes of 6–7 cm were identified, followed by extraction that was successfully performed in two sessions using a polypectomy snare and a Foreign Body Hood Protector. Additionally, multiple sessile exulcerated polypoid lesions were observed, measuring around 1–3 cm each, occupying the entire antrum. Histological examination showed inflammatory/regenerative elements, with features of moderate-to-high-grade dysplasia, while a rapid urease test for Helicobacter pylori infection was positive. As a consequence, the patient was administered triple eradication therapy. In addition, the patient presented marked features of hypereosinophilia and splenomegaly. Upon endoscopic reevaluation after 3 years and 8 months, no polyps were present and the H. pylori test was negative, while a complete and spectacular remission of both the hypereosinophilia and splenomegaly was observed. Conclusions: This case illustrates that the development and progression of gastric polyposis may be caused by the coexistence of chronic mucosal irritation from foreign bodies and H. pylori infection, which is a rare association. H. pylori eradication and endoscopic removal of the foreign bodies resulted in significant mucosal improvement.