The Syndrome of Basal Encephalocele and Hypothalamic-Pituitary Dysfunction

Abstract

Hypothalamic-pituitary dysfunction was documented in 3 patients with congenital herniation of the brain through the base of the skull (basal encephalocele). All had growth hormone [GH] deficiency, although 1 attained normal height. One had diabetes insipidus. Two had hypogonadotropic hypogonadism. Prolactin secretion was elevated in 1, normal in another, and borderline low in the 3rd. Two patients were euthyroid, but in response to thyrotropin-releasing hormone (TRH) injection, 1 patient''s thyrotropin (TSH) level increased to levels exceeding normal while the other''s did not attain normal levels. In the 3rd patient, TSH response to TRH went from subnormal to normal after treatment with GH and thyroxine. No patient had evidence of ACTH deficiency. These heterogeneous findings do not permit assignment of an unequivocal anatomic or functional site to the endocrine defect(s). Pituitary function should be evaluated in all patients with basal encephalocele, and this entity should be considered in the differential diagnosis of central endocrine malfunction.