MAROTEAUX-LAMY SYNDROME-ASSOCIATED WITH GROWTH-HORMONE DEFICIENCY

Growth retardation is a common feature of mucopolysaccharide storage d isorders, mostly considered to be a consequence of skeletal changes, M aroteaux-Lamy disease is a subtype of mucopolysaccharidosis, demonstra ting somatic changes and skeletal deformities. We present a case with Maroteaux-Lamy disease associated with growth hormone deficiency, Magn etic resonance imaging study revealed marked signal changes in white m atter due to the storage in brain and empty sella appearance in sellar region, In the presence of empty sella syndrome, hypothalamic-pituita ry dysfunction due to the storage material may have led to growth horm one deficiency in this patient. Therefore, we recommend patients with mucopolysaccharidosis, especially those who have growth retardation, t o be evaluated by hormonal and radiological studies.