Maroteaux-Lamy syndrome associated with growth hormone deficiency
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.8, no.4, pp.305-307, 1995 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 8 Issue: 4
- Publication Date: 1995
- Doi Number: 10.1515/jpem.1995.8.4.305
- Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.305-307
- Keywords: empty sella, growth hormone deficiency, magnetic resonance imaging, Maroteaux-Lamy syndrome, MUCOPOLYSACCHARIDOSIS
- Dokuz Eylül University Affiliated: No
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.