Menkes disease: Case report Menkes hastaliǧi: Olgu sunumu

Sözen H. G., Saltik S., Karatoprak E. Y.

Goztepe Tip Dergisi, cilt.28, sa.1, ss.51-54, 2013 (Scopus, TRDizin) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.5222/j.goztepetrh.2013.051
  • Dergi Adı: Goztepe Tip Dergisi
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.51-54
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Menkes disease is a rare neurodegenerative disorder which is inherited X-linked recessive. Clinical findings occurs due to defect in cooper absorption and transport and disorders of copper-dependent enzyme activities. The patient who was being examined with a history of seizures and hypotoni, then he was diagnosed with Menkes disease by the hair findings. We present this case to emphasize that Menkes disease is a rare entity and to draw attention to the typical hair findings to support the diagnosis.