Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome

Pediatr Dermatol. 2020 Jan;37(1):162-164. doi: 10.1111/pde.14029. Epub 2019 Nov 20.

Abstract

Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare condition associated with mutations in the genes RASA1 and EPHB4. We present a challenging case of CM-AVM in a 17-month-old boy with permanent diplegia from an undiagnosed arteriovenous malformation underlying a large atypical capillary malformation over the lower thoracic spine. This case demonstrates that clinicians should have a low threshold for neuroimaging in the context of new neurologic symptoms in patients with atypical capillary malformations.

Keywords: genetic diseases; mechanisms; vascular malformation.

Publication types

  • Case Reports

MeSH terms

  • Arteriovenous Fistula / diagnosis*
  • Arteriovenous Fistula / diagnostic imaging
  • Arteriovenous Fistula / etiology
  • Arteriovenous Fistula / genetics
  • Arteriovenous Malformations / complications
  • Arteriovenous Malformations / diagnosis*
  • Arteriovenous Malformations / diagnostic imaging
  • Arteriovenous Malformations / genetics
  • Capillaries / abnormalities*
  • Capillaries / diagnostic imaging
  • Cerebral Palsy / diagnosis*
  • Cerebral Palsy / diagnostic imaging
  • Cerebral Palsy / etiology
  • Humans
  • Infant
  • Male
  • Missed Diagnosis / adverse effects*
  • Port-Wine Stain / complications
  • Port-Wine Stain / diagnosis*
  • Port-Wine Stain / diagnostic imaging
  • Port-Wine Stain / genetics
  • Spinal Cord Diseases / diagnosis*
  • Spinal Cord Diseases / diagnostic imaging
  • Spinal Cord Diseases / etiology
  • Spinal Cord Diseases / genetics
  • Thoracic Vertebrae
  • p120 GTPase Activating Protein / genetics*

Substances

  • RASA1 protein, human
  • p120 GTPase Activating Protein

Supplementary concepts

  • Capillary Malformation-Arteriovenous Malformation