Joubert Sendromunun Tüm Ekzom Dizim ile Prenatal Tanısı

Öz

Joubert sendromu (JS), ilk olarak Marie Joubert tarafından tanımlanmıştır. Siliyopatiye ait genlerin nedensel mutasyonu ile karakterize, otozomal resesif geçişli kalıtımsal bir hastalıktır. 27 yaşında bir kadın, prenatal yapılan ultrasonografide renal kist saptanması üzerine ileri araştırma için kliniğimize sevk edildi. Ayrıntılı ultrasonografik incelemede fetal polikistik böbrek gözlendi. Korion villus örneklemesinde INPP5E mutasyonu mevcuttu.Gebeliğin 23. haftasında yapılan ultrasonografide vermis hipoplazisi, polikistik böbrek ve molar diş bulgusu mevcuttu. Bu bulguların başta joubert sendromu olmak üzere sendromik bir durum olduğu düşünüldü. MRI incelemesindeki vermis hipoplazisi, posterior fossa genişlemesi ve bilateral polikistik böbrek gözlendi ve radyolog bu durumu Dandy-Walker'a bağlı olduğu bildirildi, fakat molar diş bulgusuna dikkat etmediği anlaşıldı ve tekrar konsülte edildi. Aileye prognoz hakkında bilgi verildi ve terminasyon seçeneği sunuldu. JS'nin en yaygın karakteristik beyin görüntüsü eksenel düzlemdeki molar diş işareti (MTS), serebellar vermis (CV) hipoplazisi ve derinleşmiş interpedunküler fossadır. MTS, bu hastalık için anahtar tanısal özelliktir. Şimdiye kadar, JSRD'nin çeşitli alt tipleri için 30'dan fazla nedensel gen bulundu.Bunlardan biri INPP5E. Ekstra sinir sistemi kusurları arasında polikistik böbrek hastalığı, retina dejenerasyonu, iskelet kusurları (polidaktili gibi) ve karaciğer bozukluğu yer alır. Joubert Sendromu prenatal dönemde teşhis edilebilir. MTS prenatal dönemde ultrasonografi ile rahatlıkla görülebilir. Vermian hipoplazisi ve ek organ anomalileri olması akıla JS getirmeli ve molar diş bulgusu araştırılmalıdır.

Anahtar Kelimeler

• joubert sendromu
• molar diş bulgusu
• vermian hipoplazi
• polikistik böbrek
• INPP5E geni

Prenatal Diagnosis of Joubert Syndrome With Whole Exome Sequencing

Öz

Joubert syndrome(JS), was first discovered by Marie Joubert, which is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. A 27-years-old woman was referred to our clinic for advanced research over the detection of fetal renal cyst.We observed policycstic kidney in detailed examination.INPP5E mutation was detected on chorion villus sampling.We were thought may be this findings will be associated with the syndrome, primarily joubert syndorme (JS),upon detection the vermis hypoplasia, policyctic kidney and molar teeth sign was observed on USG in the 23rd week of pregnancy.The vermis hypoplasia, posterior fossa expansion and bilateral polycystic kidney was seen on MRI and radiologist was reported as Dandy-Walker depend on this findings.They did not pay attention to the molar tooth finding.We were explanied prognosis and suggeted termination to the family.The family was accepted and fetus was terminated. The most common characteristic brain image of JS is the molar tooth sign(MTS) on the axial plane, cerebellar vermis (CV) hypoplasia, and a deepened interpeduncular fossa.The MTS is the key diagnostic feature for this disease. So far, more than 30 causative genes have been found for the various subtypes of JSRD.One of them is INPP5E. Defects of additional extra-nervous systems involve polycystic kidney disease, retinal degeneration, skeletal defects (such as polydactyly), and liver disorder. Joubert Syndrome can be diagnosed in prenatally period.MTS can be seen easily with usg during prenatal period.The vermian hypoplasia and additional organ anomalies must be brought to mind JS and MTS should be searched.

Anahtar Kelimeler

• joubert syndrome
• mollar teeth sign
• vermian hypoplasia
• INPP5E gene
• polycystic kidney

Kaynakça

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