Empty sella syndrome in a boy with mucopolysaccharidosis type VI (Maroteaux-Lamy).

An 11-year-old boy with mucopolysaccharidosis type VI is presented. Because of optic atrophy, a pneumencephalogram was performed which revealed a relatively large hydrocephalus internus and a very wide, empty sella that filled with air. A Spitz-Holter valve was inserted into a lateral ventricle. STH, TSH, and cortisol response to stress, and thyroid function were normal. LH and prolactin were measurable but close to the lower normal limit. Prolactin did not rise during surgical stress. Those analyses, together with the clinical aspect, rule out severe pituitary malfunction.