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ABSTRACT Introduction: Metastatic disease of the thyroid corresponds to 2% of thyroid malignancies in autopsy series. Up to 50% of metastases are due to renal cell carcinoma (Ree). These can occur several years after diagnosis or nephrectomy. An isolated presence in the thyroid gland is rare. Clinical case presentation: We present the case of a 68-year-old woman with a history of Ree managed with nephrectomy and retroperitoneal lymphadenectomy. After 7 years free of symptoms, she noticed a mass over the thyroid region. Ultrasonography reported bilateral thyroid nodules. Due to the oncologic history and the affirmation of symptoms during swallowing, a full thyroidectomy was performed. The histopathological report was compatible with Ree metastasis. Discussion: The literature shows that the median time for thyroid metastasis in patients with Ree is 92 months. Most patients are asymptomatic, and a full thyroidectomy is recommended to prevent disease progression with a favorable impact on Survival. Conclusion: In patients with thyroid nodules and a history of Ree, metastasis should be suspected.

RESUMEN Introducción: La enfermedad metastásica a tiroides corresponde a 2% de las malignidades tiroideas en series de autopsias. Hasta el 50% de las metástasis se deben a carcinoma de células renales (Ree). Estas pueden ocurrir varios años después del diagnóstico o la nefrectomía. La presentación aislada en la glándula tiroides es rara. Presentación caso clínico: Presentamos el caso de una mujer de 68 años con historia de Ree manejada con nefrectomía y linfadenectomía retroperitoneal. Tras 7 años libre de síntomas notó la aparición de una masa sobre la región tiroidea. La ultrasonografía reportó nódulos tiroideos bilaterales. Por el antecedente oncológico y la afirmación de síntomas durante la deglución se le realizó tiroidectomía total. El reporte histopatológico fue compatible con metástasis de Ree. Discusión: La literatura muestra que el tiempo medio de metástasis a tiroides en pacientes con Ree es 92 meses. La mayoría de los pacientes son asintomáticos. Se recomienda la tiroidectomía total para prevenir progresión de la enfermedad con impacto favorable en la supervivencia. Conclusión: En los pacientes con nódulos tiroideos y antecedente de Ree se debe sospechar enfermedad metastásica.

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Mutations in the lecithin-cholesterol acyltransferase (LCAT) gene, which catalyzes the esterification of cholesterol, result in two types of autosomal recessive disorders: Familial LCAT deficiency (FLD) and Fish Eye Disease (FED). While both phenotypes are characterized by corneal opacities and different forms of dyslipidemia, such as low levels of high-density lipoprotein-cholesterol (HDL-C), FLD exhibits more severe clinical manifestations like splenomegaly, anemia, and renal failure. We describe the first clinically and genetically confirmed case of FLD in Colombia which corresponds to a 46-year-old woman with corneal opacity, hypothyroidism, and dyslipidemia, who does not have any manifestations of renal failure, with two pathogenic heterozygous missense variants in the LCAT gene: LCAT (NM_000229.2):c.803G>A (p.Arg268His) and LCAT (NM_000229.2):c.368G>C (p.Arg123Pro). In silico analysis of the mutations predicted the physicochemical properties of the mutated protein, causing instability and potentially decreased LCAT function. These compound mutations highlight the clinical heterogeneity of the phenotypes associated with LCAT gene mutations.