A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. 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.
Akcar
Nevbahar
N
Department of Radiology, Osmangazi University Hospital Meselik, 26480 Eskisehir, Turkey. nevbahara@yahoo.com
Adapinar
Baki
B
Dinleyici
Cagri
C
Durak
Beyhan
B
Ozkan
I Ragip
IR
D000015:Abnormalities, Multiple / Q000235:genetics*; D000783:Aneurysm / Q000151:congenital / Q000235:genetics; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006391:Hemangioma / Q000151:congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D012868:Skin Abnormalities / Q000235:genetics*; D012888:Skull Neoplasms / Q000151:congenital / Q000235:genetics; D013684:Telangiectasis / Q000151:congenital / Q000235:genetics*; D014034:Toes / Q000002:abnormalities