A rare clinical condition that confusing with neonatal tetanus: Crisponi syndrome: Case report Neonatal tetanoz ile karişabilen nadir bir klinik durum: Crisponi sendromu
Turkiye Klinikleri Pediatri, cilt.21, sa.1, ss.31-33, 2012 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 21 Sayı: 1
- Basım Tarihi: 2012
- Dergi Adı: Turkiye Klinikleri Pediatri
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.31-33
- Anahtar Kelimeler: Abnormalities, Fever, Muscle hypertonia, Tetanus
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
The Crisponi syndrome is an infrequently described disorder with autosomal recessive trait. It is characterized by extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Muscle contractions attenuate during rest or when baby calm down. As a recently described new disease, Crisponi syndrome may be confused with neonatal tetanus. Most of the patients die in the first months of life due to hyperthermia and feeding problems. Nowadays, it is demonstrated that CRLF1 gene mutation is associated with Crisponi syndrome. Herein, we report a 24-day-old male neonate who presented with muscle hypertonia and feeding problems, and diagnosed with Crisponi syndrome in order to emphasize the differential diagnosis with neonatal tetanus. In our country where consanguineous marriages are seen frequently, Crisponi Syndrome must be considered. Copyright © 2012 by Türkiye Klinikleri.