Endocrine Abstracts

Anamnesis: We report the case of a 54-year-old man who consulted for weight loss. He had been diagnosed with diabetes more than 20 years ago with good glycemic control (currently HbA1c 6.9%), no obesity, hypertension, or dyslipidaemia. A history of chronic pancreatitis and retinitis pigmentosa with eyelid ptosis. He maintains regular treatment with metformin, sitagliptin, repaglinide, ASA, Kreon and Pregabalin.Complementary testIn reference to the chief complaint, there had not been any changes in his eating habits, his glycaemic control was in range, there were not abnormalities in CT scans, abdominal ultrasound, and faecal occults blood test. Subsequently, he was admitted for constitutional syndrome, and an echoendoscopy was requested where a hypoechogenic lesion measuring 28x27 mm was observed in the head of the pancreas with FNA showing signs of cytological atypia. A radical pancreaticoduodenectomy was performed with a diagnosis of pancreatic adenocarcinoma with areas of squamous differentiation (G3pT4 N0, Mx). During hospitalisation the patient presented palpitations, with paroxysmal EKG conduction with right bundle branch block, and a permanent pacemaker was implanted.

Discussion: We assessed the different clinical profile and discussed a mitochondrial disease known as Kearns-Sayres Syndrome. It starts in childhood with a classic triad of palpebral ptosis, retinitis pigmentosa and progressive external ophthalmoplegia, associated with sensorineural deafness, myopathies (progressive neuralgic pain and generalised muscle weakness), cardiac conduction disturbances, CNS involvement (cerebellar ataxia, bilateral facial weakness, etc.), digestive disorders (pancreatitis, diarrhea, etc.), and endocrinopathies (diabetes, delayed puberty\..) and kidney failure. The aetiology of diabetes is due to an A3243g mutation affecting the mitochondrial MTTL1 gene. This gene encodes Leucine transfer RNA, which results in an attenuation of cytosolic ADP/ATP levels, resulting in a resetting of the glucose sensor in the pancreatic B-cell, producing less insulin. There is a high clinical variability based on the percentage of mutated DNA. In the beginning, usually under 40 years of age, there is insulin reserve, but it usually progresses to insulin dependence and treatment with metformin is not recommended due to the risk of lactic acidosis.

Conclusion: Our patient underwent a muscle biopsy, which was positive for specific alterations of fibres with mitochondrial proliferation.