title: Maroteaux-Lamy syndrome associated with growth hormone deficiency.
abstract: Growth retardation is a common feature of mucopolysaccharide storage disorders, mostly considered to be a consequence of skeletal changes, Maroteaux-Lamy disease is a subtype of mucopolysaccharidosis, demonstrating somatic changes and skeletal deformities. We present a case with Maroteaux-Lamy disease associated with growth hormone deficiency. Magnetic resonance imaging study revealed marked signal changes in white matter due to the storage in brain and empty sella appearance in sellar region. In the presence of empty sella syndrome, hypothalamic-pituitary dysfunction due to the storage material may have led to growth hormone deficiency in this patient. Therefore, we recommend patients with mucopolysaccharidosis, especially those who have growth retardation, to be evaluated by hormonal and radiological studies.
authors.affiliation: Department of Pediatrics, Dokuz Eylül University, Izmir, Turkey.
authors.forename: B
authors.initials: B
authors.lastname: Büyükgebiz
authors.forename: Y
authors.initials: Y
authors.lastname: Eroğlu
authors.forename: I
authors.initials: I
authors.lastname: Kovanlikaya
authors.forename: A
authors.initials: A
authors.lastname: Sen
authors.forename: A
authors.initials: A
authors.lastname: Büyükgebiz
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D013006:Growth Hormone / Q000097:blood / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007328:Insulin; D007980:Levodopa; D008279:Magnetic Resonance Imaging; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000150:complications* / Q000175:diagnosis
chemical_list: D007328:Insulin; D007980:Levodopa; D013006:Growth Hormone