Subtle clinical and radiological findings as potential indicators of CNS tumors in L-2-hydroxyglutaric aciduria: a literature review.

INTRODUCTION: L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare metabolic disorder associated with an increased risk of brain tumor development. Early diagnosis can be challenging due to non-specific neurological and magnetic resonance imaging (MRI) findings in the initial stages. METHODS: A literature search of PubMed/MEDLINE and Google Scholar was conducted using predefined keywords related to L-2-hydroxyglutaric aciduria and central nervous system tumors. After screening and applying eligibility criteria, 19 publications reporting 32 intracranial tumor cases were identified. Together with the current illustrative case, 33 cases were included finally. We present a case of a brain tumor that was detected in a patient with L-2-HGA after a six-year seizure-free period following the onset of focal seizures, and we performed a comparative analysis with the 33 cases reported in the literature. Serial MRI examinations revealed progression of T2 hyperintensities and nodular contrast enhancement, which is consistent with high-grade tumor transformation. Clinical observations suggest that the emergence of new neurological symptoms and rapid progression may be early indicators of tumor developmen. DISCUSSION AND CONCLUSION: MRI findings that may initially be mistaken for metabolic changes or demyelinating lesions can complicate the early diagnosis of the tumor. Therefore, careful clinical follow-up involving serial contrast-enhanced MRIs is crucial for patients with L-2-HGA. A literature review and case presentation emphasize that rapid neurological changes, or the recurrence and worsening of existing neurological symptoms, may be early warning signs. Long-term and dynamic follow-up is critical for the early detection of tumor progression and appropriate treatment planning.