Baroreflex failure, sympathetic storm, and cerebral vasospasm in fibulin-4 cutis laxa

Pediatrics. 2014 May;133(5):e1396-400. doi: 10.1542/peds.2012-3539. Epub 2014 Apr 14.

Abstract

Sudden, severe, and life-threatening, the crises associated with baroreflex failure are diagnostically challenging, particularly in children, a population in which it has rarely been described. The baroreflex failure syndrome results from impaired afferent baroreceptive input and manifests with autonomic stimulation-induced surges in blood pressure and heart rate accompanied by distinct signs, including thunderclap headache, diaphoresis, and emotional instability. Although the adult literature includes cases of severe headache in baroreflex failure,(1) (,) (2) we present the first case of a child with recurrent thunderclap headache and cerebral vasospasm with baroreflex failure secondary to vascular complications of a rare genetic connective tissue disorder.

Keywords: baroreflex; child; cutis laxa; intracranial vasospasm; thunderclap headache.

MeSH terms

  • Autonomic Nervous System Diseases / diagnosis
  • Autonomic Nervous System Diseases / genetics*
  • Baroreflex / genetics*
  • Carotid Artery, Internal / abnormalities
  • Carotid Artery, Internal / pathology
  • Cerebral Angiography
  • Child
  • Cutis Laxa / diagnosis
  • Cutis Laxa / genetics*
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics*
  • Headache Disorders, Primary / diagnosis
  • Headache Disorders, Primary / genetics
  • Humans
  • Magnetic Resonance Angiography
  • Male
  • Reflex, Abnormal / genetics*
  • Syndrome
  • Tomography, X-Ray Computed
  • Vasospasm, Intracranial / genetics*

Substances

  • EFEMP2 protein, human
  • Extracellular Matrix Proteins

Supplementary concepts

  • Cutis Laxa, Autosomal Recessive, Type I