PMID- 37076800
OWN - NLM
STAT- MEDLINE
DCOM- 20230421
LR  - 20230422
IS  - 1471-2377 (Electronic)
IS  - 1471-2377 (Linking)
VI  - 23
IP  - 1
DP  - 2023 Apr 19
TI  - Cerebral venous thrombosis with hyperhomocysteinemia due to loss of 
      heterozygosity at methylenetetrahydrofolate reductase (MTHFR) locus: a case 
      report.
PG  - 154
LID - 10.1186/s12883-023-03200-y [doi]
LID - 154
AB  - BACKGROUND: Loss of heterozygosity (LOH) at methylenetetrahydrofolate reductase 
      (MTHFR) locus has been reported in tumor tissue. But the mutation was never 
      reported in cerebral venous thrombosis (CVT) with hyperhomocysteinemia (HHcy) 
      before. CASE PRESENTATION: A 14-year-old girl was admitted with an intermittent 
      headache and nausea for 2 months. The plasma homocysteine level was 77.2 micromol/L. 
      Lumbar puncture revealed an intracranial pressure > 330 mmH2O. Cerebral MRI and 
      MRV revealed superior sagittal sinus thrombosis. Whole-exome sequencing revealed 
      LOH at Chr1:11836597-11,867,232 affects exons 10-21 of C1orf167, the entire 
      MTHFR, and exons 1-2 of the CLCN6 gene. The normal allele was the 
      c.665 C > T/677 C > T variant in MTHFR. The patient was treated with nadroparin 
      for 2 weeks, followed by oral rivaroxaban. Supplemental folate and vitamins B12 
      and B6 were prescribed. One month later, she had no headache and the intracranial 
      pressure had decreased to 215 mmH2O. MRI showed shrinkage of the thrombosis in 
      the superior sagittal sinus, the degree of stenosis had significantly decreased. 
      CONCLUSIONS: Rare LOH at the MTHFR locus should be analyzed in CVT with HHcy. 
      With anticoagulation treatment, the prognosis was good.
CI  - (c) 2023. The Author(s).
FAU - Zhang, Mingjie
AU  - Zhang M
AD  - Department of Neurology, The First Medical Center, Chinese PLA General Hospital, 
      No. 28 Fuxing Road, Beijing, 100853, PR China.
FAU - Shi, Bingxin
AU  - Shi B
AD  - Brain Science Center, Tsinghua University Yuquan Hospital, No. 5 Shijingshan 
      Road, Beijing, 100049, PR China.
FAU - Zhao, Mangsuo
AU  - Zhao M
AUID- ORCID: 0000-0001-8648-9166
AD  - Brain Science Center, Tsinghua University Yuquan Hospital, No. 5 Shijingshan 
      Road, Beijing, 100049, PR China. zhaomangsuo@163.com.
LA  - eng
GR  - 10001020116/Tsinghua Precision Medicine Foundation/
PT  - Case Reports
PT  - Journal Article
DEP - 20230419
PL  - England
TA  - BMC Neurol
JT  - BMC neurology
JID - 100968555
RN  - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2))
RN  - 935E97BOY8 (Folic Acid)
RN  - 0LVT1QZ0BA (Homocysteine)
RN  - EC 1.5.1.20 (MTHFR protein, human)
SB  - IM
MH  - Female
MH  - Humans
MH  - Adolescent
MH  - Methylenetetrahydrofolate Reductase (NADPH2)/genetics
MH  - *Hyperhomocysteinemia/complications/genetics
MH  - Heterozygote
MH  - *Intracranial Thrombosis/complications
MH  - Folic Acid
MH  - *Venous Thrombosis/complications/diagnostic imaging/drug therapy
MH  - Loss of Heterozygosity
MH  - Homocysteine
MH  - Genotype
PMC - PMC10114475
OTO - NOTNLM
OT  - Cerebral venous thrombosis
OT  - Hyperhomocysteinemia
OT  - Loss of heterozygosity
OT  - Methylenetetrahydrofolate reductase
COIS- The authors have nothing to disclose.
EDAT- 2023/04/20 00:41
MHDA- 2023/04/21 06:41
PMCR- 2023/04/19
CRDT- 2023/04/19 23:53
PHST- 2022/07/27 00:00 [received]
PHST- 2023/04/04 00:00 [accepted]
PHST- 2023/04/21 06:41 [medline]
PHST- 2023/04/20 00:41 [pubmed]
PHST- 2023/04/19 23:53 [entrez]
PHST- 2023/04/19 00:00 [pmc-release]
AID - 10.1186/s12883-023-03200-y [pii]
AID - 3200 [pii]
AID - 10.1186/s12883-023-03200-y [doi]
PST - epublish
SO  - BMC Neurol. 2023 Apr 19;23(1):154. doi: 10.1186/s12883-023-03200-y.