Mitochondrial Membrane Protein-associated Neurodegeneration: Two Adult Cases with Different Clinical Presentation
Makaleler > Tam Makale · 2021
Yazarlar: Şeyma Aykaç, Hanife Karakaya, Burhanettin ULUDAĞ, Hatice Karasoy
Turkish Journal Of Neurology, Uluslararası, Scopus, 2021, cilt 27, ss 439-441
Özet
Case ReportsCase 1 A 29-year-old male patient presented with suicidal thinking, auditory hallucinations, withdrawal from friends, slowing of movements, trembling of the hands, and stiffness of the extremities.His symptoms began 2 years ago, with progressive worsening.The case, which was followed by the diagnosis of schizophrenia in the psychiatric clinic, was referred to our clinic to investigate possible organic causes.The parents were consanguineous and without a family history of neurologic and psychiatric disease.His neurological examination revealed bradymimia, bradykinesia, rigidity on the axial and extremity muscles, and postural and actional tremors on both hands.Bilateral interosseal atrophy and fasciculations on extremity muscles were also detected without overt muscle strength loss.Moreover, the deep tendon Beyin demir birikimiyle gelişen nörodejenerasyon, klinik ve genetik olarak heterojen bir hastalık grubudur.Mitokondriyel membran protein-ilişkili nörodejenerasyon bu hastalık spektrumunun nadir görülen bir subtipidir.Bu olgu sunumuyla, nadir görülen bu hastalığa dikkat çekmek istedik.