Coexistence of Coffin-Siris Syndrome and Stercoral Colitis

Kara I., Koc U.

HONG KONG JOURNAL OF PAEDIATRICS, cilt.26, sa.4, ss.227-231, 2021 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 4
  • Basım Tarihi: 2021
  • Dergi Adı: HONG KONG JOURNAL OF PAEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.227-231
  • Anahtar Kelimeler: Coffin-Siris syndrome, Paediatrics, Stercoral colitis, DIAGNOSTIC-CRITERIA, PERFORATION, PERITONITIS, CT
  • Erzincan Binali Yıldırım Üniversitesi Adresli: Evet

Özet

Coffin-Siris syndrome is a rare syndrome diagnosed by clinical features such as mental retardation, growth retardation, absence or hypoplasia of the fifth distal phalanx, different facial features and supported by genetic testing. Stercoral colitis is an inflammatory colitis, which is usually caused by an increase in intraluminal pressure in stool material stuck in colon segments, which is rarely seen in patients with chronic constipation and may result in perforation, shock and death. Our 11-year-old male patient was brought to the emergency department with the complaint of inability to walk and the patient was diagnosed with stercoral colitis with appropriate evaluation. This is the first case in the literature in which coexistence of Coffin-Siris syndrome and Stercoral colitis were seen.