Session: SUN 690-701-Obesity Pathophysiology
Poster Board SUN-691
Case report: Male, 46-years-old, caucasian, referred to Endocrinology department by morbid obesity. Past medical history of type 2 diabetes mellitus, hypertension, dyslipidemia, obstructive sleep apnea syndrome, pulmonary emphysema and chronic venous insufficiency. In 2011, it was diagnosed a squamous cell carcinoma of the tongue. He has family history of obesity (Mother and 2 brothers), with no other relevant family diseases. Physical examination revealed 10 neurofibromas in the dorsal region, 7 café au lait spots, the largest measuring 60mm of diameter, axillary freckles, cervical and axillar acanthosis nigricans and several lisch nodules across the iris of both eyes. Blood count, biochemistry and endocrinology study had no significant alterations. Genetic study revealed a mutation c.2088G> A on exon 18 of NF1.
Conclusion: The case intends to demonstrate the importance of physical examination to assess the global condition and perform a total evaluation of the patient. Physical examination has allowed the diagnosis of neurofibromatosis type 1 and the identification of a mutation that has not been previously described.
Nothing to Disclose: EL, PF, CS, DC
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