A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.

Akcar N., Adapinar B., Dinleyici C., Durak B., Ozkan I.

Annales de genetique, cilt.47, sa.3, ss.261-5, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 3
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1016/j.anngen.2004.03.003
  • Dergi Adı: Annales de genetique
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.261-5
  • Anahtar Kelimeler: macrocephaly-cutis marmorata telangiectatica congenita, cutis marmorata telangiectatica congenita, cerebral magnetic resonance imaging, HEMANGIOMA
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal over-growth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died. (C) 2004 Elsevier SAS. All rights reserved.