Neonatal hepatitis in 2 siblings with Seckel syndrome

Deniz K., Kontas O., AKCAKUS M.

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, cilt.9, sa.1, ss.81-85, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 1
  • Basım Tarihi: 2006
  • Doi Numarası: 10.2350/07-05-0075.1
  • Dergi Adı: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.81-85
  • Anahtar Kelimeler: autopsy, neonatal hepatitis, Seckel syndrome, DEFICIENCY, LIVER
  • Erciyes Üniversitesi Adresli: Evet

Özet

Seckel syndrome was described as the prototype of the primordial bird-head type of dwarfism. We report 2 cases of Seckel syndrome in siblings. Both cases showed peculiar phenotypic features. Autopsy was performed and microscopic examination of the livers displayed histologic features of neonatal hepatitis. Tn addition, our younger patient had central nervous system anomalies such as agenesis of corpus callosum, cerebral cyst, and primitive convolutional pattern. No previous reports of liver disease exist in patients with Seckel syndrome. The pathologic findings of such an unusual association and a review of literature are presented.