Displasia septoóptica: una causa poco frecuente de hipopituitarismo asociado a fiebre y crisis adrenal recurrente / Septo-optic dysplasia: an unusual cause of hypopituitarism with recurrent fever and adrenal crises

RESUMEN

La displasia septoóptica consiste en hipoplasia congénita de nervios ópticos, alteraciones estructurales en la línea media del cerebro, fundamentalmente ausencia de septum pellucidum en un 50% de los casos y disfunción hipotálamo-hipofisaria en un 30-80% de los pacientes. Los déficit endocrinológicos se suelen detectar en los primeros años de vida, y los más frecuentes son déficit de hormona de crecimiento, hipotiroidismo, hipogonadismo y diabetes insípida, y menos frecuentemente insuficiencia adrenal y pubertad precoz. Presentamos el caso de un varón con displasia septoóptica, diagnosticado a la edad de 15 años de hipotiroidismo e hipocortisolismo, que durante su evolución cursa con cuadros febriles de repetición sin foco infeccioso evidente asociado a crisis adrenal. Se revisa la bibliografía y se discuten las alteraciones en la termorregulación como factores implicados en los cuadros febriles. También se discute sobre la necesidad de un tratamiento urgente de la crisis adrenal durante estos episodios febriles para evitar desenlaces fatales

ABSTRACT

Septo-optic dysplasia (SOD) consists of congenital hypoplasia of the optic nerves and alterations of mid-line brain structures, specifically the absence of septum pellucidum in 50% of patients, and hypothalamic-pituitary dysfunctions in 30-80%. Usually endocrinological deficiencies are detected in the first few years of life, and the most frequently found abnormalities are growth hormone deficiency, hypothyroidism, hypogonadism and diabetes insipidus, and less frequently adrenal insufficiency and precocious puberty. We report a man with SOD who was diagnosed with hypothyroidism and cortisol deficiency at 15 years and who had recurrent fever without evident infectious origin associated with adrenal crises during the course of this disease. We review the literature and discuss thermoregulatory disturbances as factors involved in the origin of fever. The need for urgent treatment of episodes of fever to avoid fatal outcomes is also discussedSepto-optic dysplasia (SOD) consists of congenital hypoplasia of the optic nerves and alterations of mid-line brain structures, specifically the absence of septum pellucidum in 50% of patients, and hypothalamic-pituitary dysfunctions in 30-80%. Usually endocrinological deficiencies are detected in the first few years of life, and the most frequently found abnormalities are growth hormone deficiency, hypothyroidism, hypogonadism and diabetes insipidus, and less frequently adrenal insufficiency and precocious puberty. We report a man with SOD who was diagnosed with hypothyroidism and cortisol deficiency at 15 years and who had recurrent fever without evident infectious origin associated with adrenal crises during the course of this disease. We review the literature and discuss thermoregulatory disturbances as factors involved in the origin of fever. The need for urgent treatment of episodes of fever to avoid fatal outcomes is also discussed