Hyperhomocysteinemia complicated with developmental epileptic encephalopathy caused by compound heterozygous mutations of MTHFR gene: one case report and literature review.
Objective To investigate the clinical correlation between hyperhomocysteinemia caused by MTHFR gene mutation and developmental epileptic encephalopathy (DEE), as well as the corresponding intervention strategies. Methods and Results A female child, aged 2 years and 5 months, presented with infantile...
| Publicado en: | Chinese Journal of Contemporary Neurology & Neurosurgery Vol. 25; no. 10; pp. 957 - 966 |
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| Autores principales: | , , , , , |
| Formato: | case study diagnostic images tables/charts tracings Journal Article |
| Publicado: |
Chinese Journal of Contemporary Neurology & Neurosurgery
Oct2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=189223622&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 189223622 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 16726731 FDQ6 jtl: Chinese Journal of Contemporary Neurology & Neurosurgery issn: 16726731 maglogo: N pubinfo: dt: Oct2025 vid: 25 iid: 10 pid: 80951 pub: Chinese Journal of Contemporary Neurology & Neurosurgery artinfo: ui: 189223622 189223622 189223622 10.3969/j.issn.1672-6731.2025.10.012 189223622 ppf: 957 ppct: 9 formats: fmt: @attributes: type: P tig: atl: Hyperhomocysteinemia complicated with developmental epileptic encephalopathy caused by compound heterozygous mutations of MTHFR gene: one case report and literature review. aug: au: DU, Ya-kun WANG, Li-hui LI, Yan CHEN, Fang DONG, Lei SUN, Su-zhen affil: Department of Neurology, Hebei Children's Hospital, Shijiazhuang 050031, Hebei, China sug: subj: Hyperhomocysteinemia Risk Factors Developmental Disabilities Complications Epilepsy Complications Risk Assessment Mutation Female Child, Preschool Spasms, Infantile Etiology Electroencephalography Lennox-Gastaut Syndrome Physiopathology Seizures Magnetic Resonance Imaging Genetic Screening Homocysteine Blood Adrenocorticotropic Hormone Therapeutic Use Topiramate Administration and Dosage Neuroprotective Agents Therapeutic Use Vitamin B12 Therapeutic Use Carnitine Therapeutic Use Sequence Analysis Child, Preschool: 2-5 years Female ab: Objective To investigate the clinical correlation between hyperhomocysteinemia caused by MTHFR gene mutation and developmental epileptic encephalopathy (DEE), as well as the corresponding intervention strategies. Methods and Results A female child, aged 2 years and 5 months, presented with infantile spasm (IS) as the initial symptom. Video electroencephalography (VEEG) showed highly irregular, which progressively evolved into generalized multifocal discharges consistent with Lennox-Gastaut syndrome (LGS), accompanied by tonic clonic seizure. MRI showed delayed myelination and leukomalacia. Genetic testing showed the compound heterozygous mutations in the MTHFR gene: c. 154C > T (p. Arg52X) and c. 889T > C (p. Tyr297His). These were inherited from her mother [c. 154C > T (p. Arg52X)] and father [c.889T > C (p.Tyr297His)]. This genetic testing resulted in severely elevated serum homocysteine level of 161 μmol/L. Following treatment with a combination of antiepileptic seizure medication (ASM), betaine and B vitamins, the homocysteine level decreased to 70 μmol/L and seizure frequency was reduced. However, significant neurodevelopmental delay persisted. Conclusions The novel compound heterozygous mutations of MTHFR gene [c.154C > T (p.Arg52X) and c.889T > C (p.Tyr297His)] expand the spectrum of known MTHFR gene mutation. These mutations disrupt folate metabolism, leading to severe hyperhomocysteinemia and DEE. This case underscores the critical importance of early metabolic intervention for improving clinical outcomes. pubtype: Academic Journal doctype: case study diagnostic images tables/charts tracings Journal Article ougenre: Article language: Chinese refInfo: holdings: @attributes: islocal: N |
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