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- Title
Pulmonary and Cerebral Infarcts Due to Secondary Thrombosis Risk of a Genetic Mutation: Life-threating Methylentetrahydrofolate Reductase (MTHFR) Deficiency with Early Onset.
- Authors
Ianosi, Edith Simona; Simona, Szasz; Nemes, Roxana; Jimborean, Gabriela
- Abstract
Methylentetrahydrofolate reductase (MTHFR) is a key enzymatic component of the folate cycle, converting 5,10-methylentetrahydrofolate into 5-methylentetrahydrofolate. Severe MTHFR deficiency is a rare recessive disease leading to major hyperhomocysteinemia, homocystinuria, and progressive neurological distress within the two first decades of life. We present the case of a young, 21 years old female patient who was admitted and treated in Clinic of Pneumology Tirgu Mures for a posterobasal left pneumonia without favourable radiologic evolution under antibiotic and symptomatic treatment. Thoracotomy was recommended in order to elucidate the diagnosis. The histopatological examination revealed the zone of pulmonary infarction. After 12 weeks from surgical intervention, the patient was admitted in Department of Neurology for stroke attack. The complex laboratory investigations reveal deficiency of methylentrahydrofolate reductase (MTHFR) caused by a genetic mutation.
- Subjects
CEREBRAL infarction; THROMBOSIS risk factors; GENETIC mutation; METHYLENETETRAHYDROFOLATE reductase; HYPERHOMOCYSTEINEMIA; HOMOCYSTINURIA
- Publication
Acta Medica Marisiensis, 2016, Vol 62, Issue 2, p269
- ISSN
2068-3324
- Publication type
Article
- DOI
10.1515/amma-2016-0026