Abstract
BackgroundMethylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities.Case presentationWe herein describe a 15-year-old boy with MTHFR deficiency who presented with a slowly progressive decline of school performance and a spastic gait. Rapidly deteriorating psychosis and repetitive seizures triggered by a febrile infection prompted neurological investigation. He had significantly elevated total plasma homocysteine and urinary homocystine levels, as well as a decreased plasma methionine level. Brain magnetic resonance imaging (MRI) revealed leukoencephalopathy. DNA gene sequencing showed c.446_447 del GC ins TT and c.137G > A, and c.665C > T heterozygous mutations in the MTHFR gene of the patient. Oral administration of betaine drastically improved his clinical symptoms within a few months. After 8 months of treatment, his total plasma homocysteine level moderately decreased; and the plasma methionine concentration became normalized. Furthermore, the white matter lesions on MRI had disappeared.ConclusionThis patient demonstrates the possibility that MTHFR deficiency should be considered in mentally retarded adolescents who display an abnormally elevated plasma level of homocysteine in association with progressive neurological dysfunction and leukoencephalopathy. Febrile infections may be an aggravating factor in patients with MTHFR deficiency.
Highlights
ConclusionThis patient demonstrates the possibility that Methylenetetrahydrofolate reductase (MTHFR) deficiency should be considered in mentally retarded adolescents who display an abnormally elevated plasma level of homocysteine in association with progressive neurological dysfunction and leukoencephalopathy
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities.Case presentation: We describe a 15-year-old boy with MTHFR deficiency who presented with a slowly progressive decline of school performance and a spastic gait
The MTHFR gene polymorphism c. 665C > T is known to be associated with reduced enzyme activity [5]
Summary
This patient demonstrates the possibility that MTHFR deficiency should be considered in mentally retarded adolescents who display an abnormally elevated plasma level of homocysteine in association with progressive neurological dysfunction and leukoencephalopathy. Case presentation A 15-year-old Japanese boy was referred to our hospital for rapidly progressive psychiatric and neurological symptoms His growth and development had been normal until the age of 11, when he began to experience academic difficulties. He was immediately admitted to a hospital because of a high fever and acute diarrhea with vomiting caused by viral gastroenteritis that had started the previous evening After admission, he rapidly developed psychotic symptoms, delusions and auditory hallucinations. He rapidly developed psychotic symptoms, delusions and auditory hallucinations His general condition was improved by rehydration, and he was discharged 3 days later with a diagnosis of hospital-induced delirium. His psychotic symptoms, such as depression, delusions, hallucinations, and anorexia, worsened over the 2 weeks. Plasma amino acid analysis showed an elevated level of total homocysteine (229.9 nmol/ml) and a decreased methionine
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call