Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)

YİŞ U., Dirik E., Chambaz C., Steinmann B., Giunta C.

NEUROMUSCULAR DISORDERS, cilt.18, sa.3, ss.210-214, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 3
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1016/j.nmd.2007.11.006
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.210-214
  • Anahtar Kelimeler: infant, hypotonia, scoliosis, Ehlers-Danlos syndrome, DIFFERENT PHENOTYPES, GENE, MUTATION
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI) (OMIM 225400) is an inherited connective tissue disorder characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Biochemically, it is characterized by a deficiency of collagen lysyl hydroxylase (EC 1.14.11.4) due to mutations in PLOD]. This deficiency results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine. Because of hypotonia and delay in gross motor development, a neuromuscular disease is usually suspected, and in most cases the diagnosis is considered only very late, after performing an invasive neuromuscular work-up with normal results.