Frequent falls and confusion: recurrent hypoglycemia in a patient with tuberous sclerosis complex

Comninos, Alexander; Yang, Lisa; Abbara, Ali; Dhillo, Waljit S.; Bassett, J. H. Duncan; Todd, Jeannie F

doi:10.1002/ccr3.1483

Cited by 7 publications

(2 citation statements)

References 10 publications

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confidence: 99%

“…The occurrence of these 2 rare conditions in the same patient is extremely rare worldwide and is not coincidental, since very few reports have mentioned/described the correlation between the 2 conditions. 2,3,5 Previous reports have described the relationship between tuberous sclerosis and malignant pancreatic islet cell tumor (a pancreatic NET) using deoxyribonucleic acid (DNA) analysis and immunohistochemistry. 6 While DNA analysis revealed a loss of heterogenicity (LOH) on chromosome 16p13 in malignant pancreatic islet cells, no LOH was observed in the normal variant of these cells.…”

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Insulinoma in tuberous sclerosis

Qahtani

Bojal

Alqarzaie

et al. 2021

SMJ

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Pancreatic neuroendocrine tumors are rare with an incident rate of 5 cases per million individuals. Tuberous sclerosis complex is an autosomal dominant disease. This disease involves multisystem and occurs in one out of every 6,000-10,000 individuals. In this study, we describe a 47-year-old male known tuberous sclerosis patient with an insulinoma. The tumor was incidentally detected in follow-up imaging for a previous ampulla of Vater tubular adenoma. However, the patient reported symptoms of hypoglycemia. The insulinoma was enucleated successfully. Histopathology revealed a well-differentiated, grade one neuroendocrine tumor measuring around 2 cm in diameter. Seven cases were reported in the literature of tuberous sclerosisassociated insulinoma. The 7 reported cases had different hypoglycemia related symptoms. The reported tumors varied in size and location on the pancreas. This paper details the eighth case worldwide where an insulinoma occurred in a tuberous sclerosis patient.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Insulinoma in tuberous sclerosis

Qahtani

Bojal

Alqarzaie

et al. 2021

SMJ

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Study of L-Asparaginase, Vincristine, and Dexamethasone Combined With Intensity-modulated Radiation Therapy in Early-Stage Nasal NK/T-Cell Lymphoma

Chen

Song

et al. 2019

American Journal of Clinical Oncology

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Objectives: Natural killer/T-cell lymphoma (NKTCL) is aggressive, and carries a poor prognosis worldwide. This retrospective study aimed to evaluate the clinical efficacy and safety of the LVD regimen (L-asparaginase, vincristine, and dexamethasone) combined with intensity-modulated radiation therapy (IMRT) for the treatment of early-stage nasal NKTCL in a Chinese population. Methods: The clinical data were collected from patients treated between March 2010 and January 2017. Patients received LVD chemotherapy combined with IMRT, and were followed for 30 to 90 months. All received radiotherapy at the end of the first/second cycle of chemotherapy. The survival curves were generated by the Kaplan-Meier method. Results: Among 94 patients who received 2 to 6 cycles (mean, 4 cycles) of treatments, 56 and 25 achieved complete and partial remission, respectively; 2 and 11 experienced stable disease and progressive disease. The overall objective response was 86.2%. Patients with elevated lactate dehydrogenase and skin invasion had a lower objective response rate. The progression-free survival rates at 1, 3, and 5 years were 90.3%, 73.5%, and 71.3%; the corresponding overall survival rates were 91.4%, 74.3%, and 74.3%. The main adverse events were myelosuppression (63.8% grades I to II, 12.8% grade III), gastrointestinal symptoms (63.8% grades I to II), hepatic lesion (55.3% grades I to II), hypoproteinemia (46.8% grades I to II), skin allergies (77.7% grades I to II, 3.2% grade III), and oral mucosal lesions (44.7% grades I to II, 33% grade III). No severe pancreatitis, anaphylaxis, or toxicity-related death was observed. Conclusion: In patients with early-stage nasal NKTCL, our LVD-IMRT regimen produced excellent, durable therapeutic benefit in most patients, with acceptable toxicity and no acute mortality.

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Malignant tumors in tuberous sclerosis complex: a case report and review of the literature

Liu,

Lele,

Goodenberger

et al. 2024

BMC Med Genomics

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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. Case presentation 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.

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Frequent falls and confusion: recurrent hypoglycemia in a patient with tuberous sclerosis complex

Cited by 7 publications

References 10 publications

Insulinoma in tuberous sclerosis

Insulinoma in tuberous sclerosis

Study of L-Asparaginase, Vincristine, and Dexamethasone Combined With Intensity-modulated Radiation Therapy in Early-Stage Nasal NK/T-Cell Lymphoma

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature

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