| CASE REPORT |
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| Year : 2021 | Volume
: 16
| Issue : 2 | Page : 153-155 |
Rapidly progressive spastic paraplegia due to hyperhomocysteinemia in child with MTHFR gene mutation and mitochondrial Complex I deficiency: A rare association
Rohan R Mahale, Jyothi Gautam, Gautam Arunachal, Sandhya Alappati, Nibu Varghese, Jennifer Kovoor, Pooja Mailankody, Hansashree Padmanabha, Mathuranath Pavagada
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India
Correspondence Address:
Dr. Rohan R Mahale
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore 560029, Karnataka.
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpn.JPN_96_20
MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, progressing to coma and death if untreated whereas in childhood onset it causes developmental delay, seizures, psychiatric disturbances, spastic gait, and ataxia. We report a 10-year-old girl with rapidly progressive spastic paraplegia requiring wheelchair ambulation within 3 months of symptom onset with behavioral disturbances. Plasma homocysteine and plasma lactate were high with normal vitamin B12 levels. Clinical exome sequencing showed homozygous missense mutation in MTHFR gene which was likely pathogenic variant. Respiratory chain complex assay from muscle sample showed reduced complex 1 deficiency (<20%).
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