Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis

J Child Neurol. 2013 Jan;28(1):115-9. doi: 10.1177/0883073812439346. Epub 2012 Mar 25.

Abstract

Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosis of macrosomia and tetralogy of Fallot. He also had macrocephaly; a high forehead; capillary hemangioma on the forehead, upper lip, and philtrum; generalized loose skin; postaxial polydactyly of both hands and feet, with neuroimaging findings of polymicrogyria and thrombosis in sagittal sinus and sinus rectus. His condition was diagnosed as macrocephaly-capillary malformation syndrome in the neonatal period and he died suddenly during sleep at 6 months of age. The clinical course in this syndrome is not as benign as was previously thought. Careful follow-up of these patients with particular emphasis on neuroradiologic and cardiologic evaluation might help decrease the risk of sudden death and to improve long-term outcome.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Megalencephaly / complications
  • Megalencephaly / etiology*
  • Sagittal Sinus Thrombosis / complications*
  • Skin Abnormalities / complications
  • Skin Abnormalities / etiology*
  • Tetralogy of Fallot / complications*