A Neonatal Case of Joubert SyndromeAbdulkadir Bozaykut, Enver Atay, İlke Özahi İpek, Zeynep Atay, Nihan Uygur, Neslihan GülseverZeynep Kamil Maternity and Children Diseases Education and Research Hospital, Department of Pediatrics, Istanbul
Joubert Syndrome is a rare syndrome characterised by hypoplasia of the cerebellar vermis, hypotonia, abnormal eye movements, abnormal breathing pattern, ataxia, developmental delay and mental retardation. A 4-day old boy was referred to our clinics with the complaints of difficulty in breathing and convulsions. Cranial MRI taken in the axial
plane demonstrated disorganised, disgenetik and split cerebellar vermis, thick superior cerebellar pedincles and small inferior cerebellar pedincles. With these clinical and radiological findings the patient had the diagnosis of Joubert Syndrome. Because it is a rare syndrome we present this neonatal case of Joubert Syndrome. Keywords: Joubert Syndrome, neonate
Joubert Sendromlu Bir YenidoğanAbdulkadir Bozaykut, Enver Atay, İlke Özahi İpek, Zeynep Atay, Nihan Uygur, Neslihan GülseverZeynep Kamil Kadın Doğum ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi Çocuk Kliniği, İstanbul
Anahtar Kelimeler: Joubert sendromu, yenidoğan
Abdulkadir Bozaykut, Enver Atay, İlke Özahi İpek, Zeynep Atay, Nihan Uygur, Neslihan Gülsever. A Neonatal Case of Joubert Syndrome. Medeniyet Med J. 2002; 17(4): 245-246
Corresponding Author: Abdulkadir Bozaykut, Türkiye |
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