Menkes disease: Case report Menkes hastaliǧi: Olgu sunumu
Goztepe Tip Dergisi, cilt.28, sa.1, ss.51-54, 2013 (Scopus, TRDizin)
- 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.