22 year old male trisomy 21 with Syncope and intermittent hyper-production of C-peptide: A Case Report




Diver, Thomas
Wong, Long


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Purpose: There are multiple causes of syncope, which is a short loss of consciousness and muscle strength, characterized by a fast onset, short duration, and spontaneous recovery. Most of time, it is difficult to figure out the exact reason for syncope in a young adult. Ruling out cardiac, non-cardiac or neurological life-threatening conditions is important. We offer a case report that manifests as syncope in a young adult with multiple intermittent high C-peptide levels upon testing. Methods: A 22-year old white male with Down’s syndrome presented to a family medicine clinic with increased intermittent episodes of syncope. These episodes lasted approximately 3-5 minutes and the patient awoke without recall. The patient presented with two main complaints, seizures and syncope frequently over the last two years. The seizures were consistent with epilepsy and he was given standard anti-convulsants which controlled these symptoms. However, the syncope remained. Further testing was conducted including workups for neurology, cardiology, emergency room evaluation and endocrinology. Results: Neurological causes were ruled out because of a normal brain MRI , Cardiogenic causes were ruled out because of normal results for EKG and echocardiogram. Meanwhile, he went to the emergency room for loss of conscious symptoms and his medication Keppra was increased from 500 milligrams to 750 milligrams controlling his seizures. Repeated blood chemistries indicated that blood glucose levels were normal but C-peptide levels were elevated with each episode of syncope, which could indicate Insulin Hypersecretion Syndrome or a cellular insulinoma. Future testing needs to be conducted at the cellular level, including repeated MRI’s of the pancreas; however, insurance issues are barriers to this process. Conclusions: No other case reports for young adults with a primary complaint of syncope and similar test results have surfaced in the literature thus far. Without further testing, a definitive cause cannot be determined.