A Rare Case of Adult-Onset Leukodystrophy

Dr. Akula Sushmitha, Dr. N. V. Sundarachary, Dr. G. Bindu Narmada, Dr. M. Bhargavi Devi

Abstract: Introduction: Methylene tetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder affecting folate metabolism and homocysteine remethylation, resulting in elevated homocysteine levels and hypomethioninemia. While most cases manifest in infancy or childhood, adult-onset forms are rare and may mimic other neurodegenerative disorders such as leukodystrophies, hereditary spastic paraparesis, or inflammatory demyelinating diseases. Case Report: An 18-year-old male, born of third-degree consanguineous parentage and diagnosed with hypothyroidism, presented with a 1?-year history of progressive decline in scholastic performance, followed by weakness and stiffness of both lower limbs and later upper limb weakness. He also developed generalized tonic-clonic seizures for 6 months. Neurological examination revealed spastic quadriparesis with exaggerated lower limb reflexes and extensor plantar responses, with normal sensory, cerebellar, and cranial nerve functions. MRI brain showed confluent periventricular T2 and FLAIR hyperintensities suggestive of leukodystrophy. Serum vitamin B12 was low (98 pg/ml), and genetic testing confirmed MTHFR deficiency. Treatment And Outcome: The patient was treated with oral betaine (3 g/day), vitamin B12, and pyridoxine, resulting in mild clinical improvement. Conclusion: MTHFR deficiency, although rare in adults, should be suspected in cases of unexplained spastic paraparesis, seizures, or cognitive decline. Early identification and metabolic therapy can halt progression and improve outcomes.

Keywords: Leukodystrophy, MTHFR deficiency, Adult-onset leukodystrophy, Hyperhomocysteinemia, Betaine therapy

How to Cite?: Dr. Akula Sushmitha, Dr. N. V. Sundarachary, Dr. G. Bindu Narmada, Dr. M. Bhargavi Devi, "A Rare Case of Adult-Onset Leukodystrophy", Volume 14 Issue 11, November 2025, International Journal of Science and Research (IJSR), Pages: 1001-1002, https://www.ijsr.net/getabstract.php?paperid=SR251112155516, DOI: https://dx.doi.org/10.21275/SR251112155516