Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency

Abstract Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessively inherited inborn error of folate metabolism. We report a new patient with severe MTHFR deficiency who presented at age 4 months with early onset severe scoliosis associated with severe hypotonia. M...

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Published in:Brain & development (Tokyo. 1979) 2015-01, Vol.37 (1), p.168-170
Main Authors: Munoz, Tatiana, Patel, Jinesh, Badilla-Porras, Ramses, Kronick, Jonathan, Mercimek-Mahmutoglu, Saadet
Format: Article
Language:English
Subjects:
Child, Preschool
Failure to thrive
Female
Homocysteine
Homocystinuria - complications
Humans
Hypotonia
Methylenetetrahydrofolate Reductase (NADPH2) - deficiency
Muscle Spasticity - complications
Neurology
Psychotic Disorders - complications
Scoliosis
Scoliosis - etiology
Severe methylenetetrahydrofolate reductase deficiency
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Summary:Abstract Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessively inherited inborn error of folate metabolism. We report a new patient with severe MTHFR deficiency who presented at age 4 months with early onset severe scoliosis associated with severe hypotonia. Markedly decreased MTHFR enzyme activity (0.3 nmoles CHO/mg protein/h; reference range > 9) and compound heterozygous mutations (c. 1304T>C; p.Phe435Ser and c.1539dup; p.Glu514Argfs∗24) in the MTHFR gene confirmed the diagnosis. She was treated with vitamin B12, folic acid and betaine supplementation and showed improvements in her developmental milestones and hypotonia. To the best of our knowledge, this is the first patient with MTHFR deficiency reported with severe early onset scoliosis. Despite the late diagnosis and treatment initiation, she showed favorable short-term neurodevelopmental outcome. This case suggests that homocysteine measurement should be included in the investigations of patients with developmental delay, hypotonia and scoliosis within first year of life prior to organizing genetic investigations.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2014.03.003