Maroteaux-Lamy syndrome associated with growth hormone deficiency

Buyukgebiz B., Eroglu Y., Kovanlikaya I., Sen A., Buyukgebiz A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.8, sa.4, ss.305-307, 1995 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 4
  • Basım Tarihi: 1995
  • Doi Numarası: 10.1515/jpem.1995.8.4.305
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.305-307
  • Anahtar Kelimeler: empty sella, growth hormone deficiency, magnetic resonance imaging, Maroteaux-Lamy syndrome, MUCOPOLYSACCHARIDOSIS
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

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.