ABSTRACT
Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is a primary mitochondrial disorder characterized by myoclonus, epilepsy, ataxia, and muscle fiber abnormalities. While traditionally associated with neurological features, MERRF's multisystem nature extends to endocrine dysfunction, including diabetes mellitus, thyroid disorders, and adrenal abnormalities. This case report explores the multifaceted nature of MERRF syndrome by presenting the clinical journey of a 70-year-old woman who sought care at the endocrinology clinic due to coexisting Addison's disease and diabetes mellitus, marked by recurrent hypoglycemia and suboptimal metabolic control. Over time, she developed a history of myoclonic epilepsy, effectively managed with lamotrigine, along with mild sensory axonal polyneuropathy and ataxia. The patient was diagnosed with MERRF syndrome following her son's diagnosis, which had a severe form. This case underscores the intricate interplay between mitochondrial dysfunction and endocrine manifestations in MERRF syndrome, highlighting the importance of a comprehensive and multidisciplinary approach to patient care. MERRF syndrome's array of endocrine manifestations substantially impacts patients' quality of life and morbidity. A comprehensive approach, uniting endocrinologists, neurologists, geneticists, and other specialists, is essential for effective patient care. Further research is warranted to unravel the complex mitochondrial-endocrine interactions in MERRF syndrome, offering potential insights for improved management.
ABSTRACT
Postprandial hypoglycemia is a rare complication after Roux-en-Y gastric bypass (RYGB). The underlying pathophysiology remains to be fully understood. We present a case of a 49-year-old woman with a past medical history of mesenteric thrombosis due to prothrombin-related thrombophilia, which culminated in RYGB 10 years prior to presentation. The patient had been given anticoagulation treatment for several years, which she abandoned one year prior to presentation. She presented to our consultation with episodes of postprandial hypoglycemia and severe anemia due to iron and vitamin B12 deficiencies. Dietary adjustments were set in place to prevent hypoglycemia and neuroglycopenic symptoms. Intravenous iron and intramuscular vitamin B12 supplementation led to full recovery of hemoglobin levels, allowing restart of oral anticoagulation to prevent recurrence of thrombotic events.
