Anterior sacral meningocele in a patient with Marfan syndrome

D Rigante1, G Segni

  • 1Department of Pediatrics, Università Cattolica Sacro Cuore, Rome, Italy. iclpe@rm.unicatt.it

Insights

Anterior sacral meningocele is rarely linked to Marfan syndrome (MFS). This case highlights a rare association, presenting a large pelvic mass in an MFS patient diagnosed via MRI.

Area of Science:

  • Neuroscience
  • Genetics
  • Radiology

Background:

  • Marfan syndrome (MFS) is a genetic connective tissue disorder.
  • Dural ectasia is a common finding in MFS, affecting up to two-thirds of patients.
  • Anterior sacral meningocele (ASM) is a rare condition involving a cystic protrusion of the dura mater.

Observation:

  • A case study of an 18-year-old male with Marfan syndrome is presented.
  • MRI revealed a large cystic mass in the pelvic region, consistent with ASM.
  • The condition remained stable over a one-year follow-up period.

Findings:

  • This report describes a rare association between Marfan syndrome and anterior sacral meningocele.
  • The diagnosis was confirmed through detailed MRI morphological evaluation.
  • The observed ASM was a significant pelvic mass.

Implications:

  • This case expands the known spectrum of connective tissue abnormalities in Marfan syndrome.
  • It emphasizes the importance of considering ASM in MFS patients presenting with pelvic masses.
  • Further research may elucidate the underlying mechanisms connecting MFS and ASM.

Related Concept Videos

Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
561
Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
774
Cranial and Spinal Meninges01:19

Cranial and Spinal Meninges

The cranial and spinal meninges are complex protective structures surrounding the central nervous system (CNS), consisting of the brain and spinal cord. These meninges consist of the dura mater, the arachnoid mater, and the pia mater. They protect the CNS, provide structural support, and aid in circulating cerebrospinal fluid (CSF).
Cranial Meninges
These meningeal layers cover the cranium. The dura mater is the outermost layer of cranial meninges. It is a thick and durable membrane of dense...
4.4K