Benal KUNAK, Emine POLAT, Çiğdem ÜNER, Taşcı Yasemin YILDIZ, Adem KARBUZ

Joubert sendromu: Bir olgu

Joubert sendromu hipotoni, ataksi, gelişme geriliği, epizodik takipne-apne ve okulomotor anomalilerle karakterize nadir görülen bir hastalıktır. Karakteristik görüntüleme bulgusu serebellar vermiş hipoplazisi ve beyin sapında "molar diş" bulgusudur. Burada 24 aylık Joubert sendromu tanısı alan bir hasta sunulmuştur.

Anahtar Kelimeler:

Manyetik rezonans görüntüleme, Süt çocuğu, Doğumsal anormallikler, Erkek

Joubert syndrome: A case report

Joubert syndrome is a rare autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, episodic tachypnea-apnea and oculomotor abnormalities. The most characteristic imaging features are cerebellar vermiş hypoplasia and "molar tooth" sign of the brainstem. Here we report a 24 month old boy diagnosed Joubert syndrome.

Keywords:

Magnetic Resonance Imaging, Infant, Congenital Abnormalities, Male,

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