Amaç: Osteogenezis imperfekta (Oİ) heterojon klinik bir durum olarak kabul edilmektedir. Genetik karmaşıklığı ve yaygın fenotipik değişkenliği bu durumun heterojen klinik görünümüne neden olur. Yöntem: Otuz üç yaşında, erkek hasta irritabilite, alınma düşünceleri ve agresif davranışlar nedeniyle konsülte edilmiştir. Sonuçlar: Fiziksel muayene ve radyolojik bulgularla Oİ tip-IV tanısı konulmuştur. Psikotik belirtiler düşük doz antipsikotik tedavi sonrası gerilemiştir. Tartışma: Bu yazıda psikotik belirtili nadir bir Oİ olgusu sunulmuştur. Pozitif aile öyküsü ile psikiyatrik bozukluk ve Oİ'nın birlikteliği psikotik bozuklukla Oİ arasındaki ortak genetik temele işaret edebilir.
Objective: Osteogenesis imperfecta (OI) is regarded as a heterogeneous clinical condition. Genetic complexity and extensive phenotypic variation lead to heterogeneous clinical manifestations in the condition. Methods: A 33-year old, male underwent consultation because of irritability, reference ideas and aggressive behavior. Results: OI typeIV was diagnosed on the basis of physical examinations and radiological findings. Psychotic symptoms improved following low-dose antipsychotic treatment. Discussion: This report presents a rare case of OI with psychotic symptoms. Comorbidity of a psychiatric disorder and OI in a case with a positive family history for both may also emphasize a common genetic basis between the psychotic disorders and OI.
___
1. Sillence DO. Osteogenesis imperfecta nosology and genetics. Annals of the New York Academy of Sciences 1988; 543:1-15.
2. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16:101-116.
3. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 2007; 28:209-221.
4. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet 2011; 155:943-968.
5. Koch HJ, Bauer A. Osteogenesis imperfecta associated with recurrent depressive episodes and postpartum psychosis in a 27-year-old women. Archives of Psychiatry and Psychotherapy 2012; 4:59-62.
6. Chodirker EI, Varsamis J. Osteogenesis imperfecta and schizophrenia in two members of the same family. Can Psychiatr Assoc J 1972; 17:65-67.
7. Artunkla S, Bayülkem F, Öker C, Kapıcıoğlu T. Two cases of osteogenesis imperfecta one of them with catatonic symptoms. (Article in Turkish) Turk Tip Cemiyeti Mecmuasi 1995; 2:144-151.
8. Heide T. Ein Syndrom bestehend aus Osteogenesis imperfecta, Makrozephalus mit Schaltknochen und prominenten Stirnhöckern, Brachytelephalangie, Gelenküberstreck barkeit, kongenitaler Amaurose und Oligophrenie beidreiGeschwistern Klin Padiatr 1981;193:334-340.
9. Roughley PJ, Rauch F, Glorieux FH. Osteogenesis imperfecta-clinical and molecular diversity. Eur Cell Mater 2003; 5:41-47.