Moyamoya Disease: Advances in Diagnosis, Treatment, and Surgical Interventions

Pratik S Navandhar1, Pankaj Gharde1, Raju K Shinde1

  • 1General Surgery, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

Cureus
|June 7, 2024
PubMed

Insights

Moyamoya disease (MMD) involves progressive brain artery narrowing, increasing stroke risk. Research focuses on the RNF213 gene and surgical revascularization for treatment.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Surgery

Background:

  • Moyamoya disease (MMD) is a rare, progressive cerebrovascular disorder.
  • Characterized by narrowing of brain arteries, leading to stroke.
  • The RNF213 gene is a primary susceptibility factor, particularly in East Asian populations.

Purpose of the Study:

  • To review current understanding of Moyamoya disease (MMD).
  • To discuss diagnostic advancements and therapeutic strategies.
  • To highlight the role of genetic factors and surgical interventions.

Main Methods:

  • Literature review of Moyamoya disease (MMD) research.
  • Analysis of diagnostic imaging techniques, including magnetic resonance examination.
  • Evaluation of surgical revascularization procedures (direct, indirect, combination).

Main Results:

  • RNF213 gene identified as a key susceptibility gene for MMD.
  • Surgical revascularization is the primary treatment modality.
  • Advanced imaging aids in diagnosis and identifying asymptomatic cases.

Conclusions:

  • MMD understanding is evolving with genetic and imaging research.
  • Surgical interventions offer significant therapeutic benefits.
  • Continued research is vital for improved MMD patient outcomes.