A Rare Case of Cerebral Sinovenous Thrombosis Associated with MTHFR A1298C and C677T Mutations
Neonatal Medicine
;
: 168-172, 2016.
Artículo
en Inglés
| WPRIM
| ID: wpr-179303
ABSTRACT
Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neurological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated with vascular diseases. Here, we report the case of a newborn with MTHFR mutation-associated CSVT. Analysis of MTHFR in the patient detected heterozygous C677T (677CT) and A1298C (1298AC) mutations. Analysis of MTHFR in the patient's mother did not detect a C677T (677CC) mutation but detected a homozygous A1298C (1298CC) mutation. Our results suggest that the presence of heterozygous MTHFR C677T and A1298C mutations affect thrombophilic activity in the neonate, resulting in the development of refractory seizure and CSVT. Moreover, presence of the homozygous MTHFR A1298C mutation in the patient's mother, who did not show any symptoms associated with thrombophilic activity, and conditions during gestation may have affected the patient's condition.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Convulsiones
/
Trombosis
/
Enfermedades Vasculares
/
Infarto Cerebral
/
Accidente Cerebrovascular
/
Enfermedades Raras
/
Metilenotetrahidrofolato Reductasa (NADPH2)
/
Ácido Fólico
/
Madres
Límite:
Humanos
/
Recién Nacido
/
Embarazo
Idioma:
Inglés
Revista:
Neonatal Medicine
Año:
2016
Tipo del documento:
Artículo
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