Faysal EKİCİ, Hatice GÜMÜŞ, Ayla BÜYÜKKAYA, Ramazan BÜYÜKKAYA

Glutarik asidüri tip 1 nedeniyle izlenen bir olguda gelişen serabral venöz tromboz

Serebral venöz tromboz, klinik semptom ve bulgularının çeşitliliği nedeniyle ilginç ve zor bir hastalıktır. Her yaşta görülebilen bir hastalıktır. Başlangıç aşamasında tanı koymak zordur. En sık etkilenen sinüsler, superior sagittal sinüs gibi büyük sinüslerdir. Sistemik inflamatuar hastalıklar, kalıtsal ve edinsel koagülasyon bozuklukları en sık gözlenen etiyolojik nedenlerdir. Yaklaşık % 20-30 olguda neden tespit edilemez. Glutarik asidüri tip 1 nedeniyle takip edilen çocuk hastanın norolojik defisiti gelişmesi nedeni ile yapılan incelemelerde serabral venöz sinüs trombozu tespit edilmişdir.

Anahtar Kelimeler:

Glutarik asidüri tip 1, Serebral venöz tromboz, bilgisayarlı tomografi

Cerabral venous trombosis during follow up of a case with glutaric aciduria type 1

Cerebral venous sinus thrombosis is a challenging condition because of its diversity of clinical symptoms and signs. Diagnosis is not easy at first presentation. All age groups can be affected. Large sinuses such as the superior sagittal sinus are most frequently involved. Systemic inflammatory diseases, inherited and acquired coagulation disorders are frequent causes, although in up to 20-30% of cases no underlying cause can be identified. Here, we present glutaric aciduria type 1 in a 9-years-old girl with cerebral venous thrombosis.

Keywords:

Glutaric aciduria type 1, cerebral venous thrombosis, computed tomography,

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