Joubert Sendromu Tanısı Alan Yenidoğan: Olgu Sunumu

Erken membran rüptürü nedeniyle 36. Gebelik haftasında doğan erkek bebek, doğum sonrası 1. dakika APGAR ‘ı 8, 5. dakika APGAR ‘ı 9 olarak kaydedildi. Anne yanı izlemlerinde beslenirken siyanozu olması nedeniyle postnatal 19. saatinde yenidoğan yoğun bakım ünitesine alındı. Hastanın solunum sesleri dinlemekle her iki hemitoraksta doğal olmasına rağmen inter kostal ve subkostal çekilmeleri mevcuttu. Non-invaziv ventilasyon desteği altında dirençli apnelerinin olması üzerine entübe edilerek mekanik ventilatöre bağlandı. Kraniyal MR ’ında; disorganize, disgenetik, split serebellar vermis; kalın superior serebellar pedinkül ve küçük inferior serebellar pedinküllerden oluşan ‘molar diş’ görünümü izlendi. Kliniğimizde takipte olduğu süre içerisinde hiperpne-apne atakları belirli aralarla tekrarlayan ve iki kez klonik konvülsiyonu gözlenen hastaya 5 mg/kg/gün fenobarbital tedavisi uygulandı. Bu bulgular ışığında klinik tablosu ve kranial MR değerlendirmesiyle bebeğe Joubert Sendromu tanısı konuldu. Yenidoğan yoğunbakım ünitesinde genel durumunu bozmayan hiperpne-apne periyotları ara ara devam etti. 28 günlük takip ve tedavi sonunda anne uyumu tamamlanan bebek çocuk nöroloji takipleri yapılmak üzere önerilerle taburcu edildi.

Newborn Diagnosed with Joubert Syndrome: A Case Presentation

The APGAR score of male infant born at the 36th gestational week due to an early membrane rupture, was recorded as 8 in the postnatal 1st minute and 9 in the postnatal 5th minute. During the mother-side follow-ups he was taken to the neonatal intensive care unit in the postnatal 19th hour due to having cyanosis while feeding. The patient’s respiratory sounds were listened to and it was determined that there were intercostal and subcostal withdrawals in both hemithoraxes, though natural. Due to the presence of resistant apnea under non-invasive ventilation support, he was intubated and put on a mechanic ventilator. In his cranial MR; a disorganized, disgenetic ‘molar tooth’ appearance producing split cerebellar and consisting of thick superior cerebellar peduncles and small inferior cerebellar peduncles, was observed. A five mg/kg/day phenobarbital treatment was applied to the patient, who had repetitive hyperpnea-apnea attacks at certain intervals and was observed to have clonic convulsions twice during his follow-up in our clinic. In the light of these findings; the infant was diagnosed with Joubert Syndrome according to his clinical picture and cranial MR evaluation. His hyperpnea-apnea attacks continued at intervals without destroying his general condition in the neonatal intensive care unit. At the end of the 28-day follow-up and treatment, the infant who completed his mother adaptation was discharged to have pediatric neurological follow-ups with recommendations.

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