ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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Ochronosis With Cerebellar Hypoplasia: Case Report
Cüneyt TEMİZ*, Ahmet Şükrü UMUR**, Birol ÖZKAL**, Mehmet SELÇUKİ***
* Yrd.Doç.Dr., Celal Bayar Üniversitesi Tıp Fakültesi Nöroşirurji AD,** Dr., Celal Bayar Üniversitesi Tıp Fakültesi Nöroşirurji AD,***Prof.Dr., Celal Bayar Üniversitesi Tıp Fakültesi Nöroşirurji AD, MANİSA
Introduction: This article represents a patient with ochronosis who had multiple intervertebral disc degenerations and serebellar atrophy.
Discussion: Ochronosis is a rare pathological condition that transmits as autosomal recessive trait. This disease com-monly appears at 4th and 5th decade of life. The reason is the absence of homogentisic acid oxidase enzyme which takes place in aminoacidic metabolic pathway. There is homogentisic acid deposition in connective tis-sue, skin, cardiovascular system, urinary tract, eyes, pulmonary system, big joints of extremities and interver-tebral discs. The common symptoms and findings arise from connective tissue dissease. In the literature, there were few cases representing ochronosis without visual or skin findings. Our case also did not have this kind of findings. But this patient also had cerebellar atrophy. In the literature, association of ochronosis and multiple in-tracerebral aneurysms, different types of neuropathy, myelopathy and dural involvement combination are well known.
Conclusion: However, we could not able to find a report about ochronosis associated with cerebellar atrophy and multiple vacuum phenomena. Also there is no knowl-edge in the literature, about if absence of homogentisic acid oxidase may be responsible for cerebellar atrophyKeywords: Ochronosis, Cerebellum, AtrophyTurkiye Klinikleri J Med Sci 2003, 23:323-327
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