Diagnóstico de Berardinelli-Seip durante o curso de Carcinoma Papilífero de Tireoide com metástase para linfonodo - Um Relato de Caso

Abstract

Male patient, 28 years old, farmer, sought medical assistance after observing a nodule in the topography of the thyroid. FNAB was performed suggestive of malignancy. He underwent total thyroidectomy, which confirmed classic subtype papillary carcinoma, focal vascular invasion (< 4 vessels), lymphatic invasion and lymph node metastasis (4/6), the largest of which was 7 mm. Later I had radioiodine. In addition, some dysmorphias were presented, such as facial lipoatrophy, muscular hypertrophy, hyperphagia and laboratory changes such as hypertriglyceridemia and hyperglycemia that draw attention. Family history, consanguineous parents, denied family history of thyroid cancer, previous exposure to ionizing radiation and lipodystrophy. On physical examination: acanthosis nigircans in the cervical and axillary region, generalized lipoatrophy with muscular pseudohypertrophy, absence of Bouchard's fatty ball, protrusion of the umbilical scar and presence of hepatomegaly 3 cm from the costal margin. Visible crease on the anterior surface of the thigh measuring 7 mm and BMI 27.8. In laboratory tests, Triglycerides: 305, LDL 30, HDL 45, GJ 111, HBA1C 6%, Leptin <0.42 (VR 2.0-5.6), Insulin 40.8 (1.9-23), Indicate from Homa 11.07. No abdominal USG or CT showed hepatosplenomegaly. Biopedance showed 44.2% muscle mass and 7.6% fat mass. The genetic test confirmed generalized congenital lipodystrophy type 2, with a homozygous pathogenic variant in the BSCL2 gene. Congenital generalized lipodystrophy (CGL), also called Berardinelli-Seip congenital lipodystrophy, is a rare, autosomal recessive disease frequently associated with parental consanguinity. Type 2 LGC is the second most common form of LGC, caused by mutations in the BSCL2 gene. Although type 2 LGC is a rare pathology, it is important to recognize the signs and symptoms for early diagnosis and intervention as delays predispose to irreversible organ damage. Treatment restricts the control of hyperlipidemia, diabetes and its complications. The recombinant leptin, metreleptin, has been shown to decrease hyperphagia, improve insulin sensitivity, cause hepatic steatosis, and improve the NASH score in biopsy specimens. However, its use in clinical practice is still limited due to its high cost. Patients with extreme insulin resistance have an increased prevalence of thyroid nodules, which may be a risk factor for thyroid cancer. Constant surveillance may benefit these patients.