Joubert syndrome; case report Joubert Sendromu; Olgu sunumu


Paksu M. Ş., Dağdemir A., Taşdemir H. A., Güngör O., Küçüködük Ş., İncesu L.

Ondokuz Mayis Universitesi Tip Dergisi, cilt.21, sa.2, ss.90-93, 2004 (Scopus) identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 21 Sayı: 2
  • Basım Tarihi: 2004
  • Dergi Adı: Ondokuz Mayis Universitesi Tip Dergisi
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.90-93
  • Anahtar Kelimeler: Child, Joubert Syndrome, Tachypnea
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Joubert syndrome is a rarely seen disease which generally presents in the first month of the life; characterized by hypotonia, tachypnea and apnea episodes. Furthermore; abnormal respiration pattern, abnormal eye and tongue movements, ataxia, mental - motor retardation can be found. Should be kept in mind that some extracerebral disorders may accompany in some cases It has to be considered in the differential diagnosis of patients with abnormal respiration pattern. A forty days old male who had tachypnea and had been diagnosed Joubert syndrome was discussed in the light of the literature.