Huntington hastalığı: İki olgu
Huntington Hastalığı (HH) otozomal dominant genetik geçiş özelliği gösteren, motor, psikiyatrik ve bilişsel içerikli klinik bulgularla karakterize ilerleyici nörodejeneratif bir hastalıktır. Genetik geçişli nörodejeneratif hastalıkların kesin tanısı birçok açıdan önemlidir. 56 yaşında bayan ve 61 yaşında erkek olgular kliniğimize unutkanlık, istemsiz hareketler ve depresif semptomlar ile başvurdu. Kraniyal manyetik rezonans inceleme yöntemiyle birinci hastada jeneralize atrofi, ikinci hastada bilateral kaudat ve putaminal atrofi görsel olarak saptandı. Olguların Pozitron emisyon tomografi incelemelerinde kaudat çekirdekte 10 mCi F-18 deoxyglucose (FDG)'un düşük metabolik aktivitesi gösterilerek tanı desteklendi. Etiyolojik incelemede N19/Exp43 CAG uzunluğu gösterilerek HH tanısı kesinleştirildi. Genetik inceleme ile tanısı doğrulanan 2 olguda PET incelemesinin önemi vurgulanmıştır.
Case report: Two patients with Huntington's disease
Huntington's disease is an autosomal dominantly transmitted, progressive neuro-degenerative disease which presents itself with motor, psychiactric and cognitive dysfunction. Diagnosis of genetically transmitted disease is important in many aspects. 56 year-old female and 61 year-old male patients referred to the hospital with compliants of forgetfulness, involuntary movements and depressive-like symtoms. The female patients cranial magnetic resonans imagining (MRI) showed diffuse atrophy and the male patient's MRI was notable for fokal areas of atrophies mainly in the caudate and putamen nuclei. In PET( Positron emission tomography) examination low methabolic activity of FDG in the caudate nucleus of both patients supported the diagnosis the genetic results of N19/Exp43 CAG. The clinical significance of PET study was stated in two genetically diafnascd cases with, Huntington's diseas.
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