Spinal cord infarction in a young adult: What is the culprit?

The Journal of Spinal Cord Medicine, 2021 · DOI: 10.1080/10790268.2019.1671077 · Published: January 1, 2021

Simple Explanation

Spinal cord infarction (SCI) in young adults without trauma is often linked to genetic mutations that cause a hypercoagulable state, increasing the risk of blood clots. This case report presents a young man with acute paraplegia due to SCI, exploring potential genetic causes and emphasizing the importance of early diagnosis and genetic counseling. Identifying specific genetic mutations can help prevent unnecessary tests, enable early rehabilitation, and offer genetic counseling to family members who may also be at risk.

Study Duration

Not specified

Participants

One 48-year-old male patient

Evidence Level

Case Report

Key Findings

1
The patient had multiple heterozygous and homozygous gene mutations, including factor II G20210A, MTHFR A1298C, factor XIII, beta-fibrinogen, and ACE D-allele.
2
Genetic testing of the patient's brothers revealed that they were also carriers of similar genetic profiles associated with thrombotic disorders.
3
The most commonly encountered mutation in SCI in reported cases was the MTHFR gene, particularly the A1298C mutation.

Research Summary

This case report highlights a case of spinal cord infarction (SCI) in a young adult, emphasizing the role of genetic mutations in such events and the importance of early genetic testing. The study suggests that patients with cryptogenic SCI, especially young adults, should undergo genetic analysis to identify potential underlying mutations. The authors recommend genetic screening and counseling for relatives of SCI patients to assess their risk and implement preventive measures.

Practical Implications

Genetic Testing for SCI Patients

Patients presenting with acute spinal cord infarction, especially young adults with no clear cause, should undergo genetic analysis.

Genetic Screening for Relatives

Relatives of SCI patients should be screened for genetic mutations to assess their risk of developing thrombotic events.

Lifestyle Modifications

Individuals identified as carriers of genetic mutations associated with SCI should receive counseling to reduce risk factors such as smoking, hyperlipidemia, and a sedentary lifestyle.

Study Limitations

1
The study is a single case report, limiting generalizability.
2
Lack of evidence-based studies to confirm the probability of SCI in asymptomatic carriers of gene mutations.
3
Uncertainty in the treatment of SCI; no proven efficacy of anti-platelets or steroids.

Your Feedback

Was this summary helpful?

Back to Spinal Cord Injury