Cobb syndrome: case report

Ignacio Pascual-Castroviejo1, Remedios Frutos, Juan Viaño

  • 1Pediatric Neurology Service, University Hospital La Paz, Madrid, Spain. pascas@inves.es

Journal of Child Neurology
|February 15, 2003
PubMed

Insights

A rare case of a 7-year-old boy showed associated cutaneous hemangioma and spinal arteriovenous malformations. Both spinal and paraspinal malformations were found to originate from the same intercostal arteries.

Area of Science:

  • Vascular malformations
  • Pediatric neurology
  • Radiology

Background:

  • Arteriovenous malformations (AVMs) are complex vascular anomalies.
  • Spinal AVMs can present with varied clinical manifestations.
  • Co-occurrence of cutaneous and spinal vascular malformations is uncommon.

Observation:

  • A 7-year-old boy presented with a cutaneous hemangioma.
  • Physical examination revealed subtle cutaneous changes on the back, requiring tactile stimulation for detection.
  • Magnetic resonance arteriography (MRA) identified both intramedullary and paraspinal arteriovenous malformations.

Findings:

  • Selective intercostal arteriography confirmed that the intraspinal and paraspinal AVMs shared common feeding intercostal arteries.
  • This finding suggests a potential shared vascular supply pathway for these distinct malformations.
  • The cutaneous hemangioma's association with the spinal AVMs was noted.

Implications:

  • Highlights the importance of thorough vascular imaging in pediatric patients with suspected spinal abnormalities.
  • Suggests a possible syndromic association or shared developmental origin for combined cutaneous and spinal AVMs.
  • Informs diagnostic and therapeutic strategies for complex vascular malformations in children.

Related Concept Videos

Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Pleiotropy01:47

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Sex-linked Disorders02:28

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...