MULTILOCULATED HYDROCEPHALUS OF INTRAUTERINE-ONSET: A CASE REPORT OF AN UNEXPECTED MTHFR A1298C POSITIVE TEST RESULT

作者：Cizmeci M N^*; Akelma A Z; Kosehan D; Kutukoglu I; Sonmez F M

来源：Genetic Counseling, 2013, 24(3): 265-271.

• Hydrocephalus
• MTHFR A1298C mutation
• Newborn Thrombosis

Multiloculated hydrocephalus of intrauterine-onset: a case report of an unexpected MTHFR A1298C positive test result: Loculated hydrocephalus is a condition in which discrete fluid-filled compartments form in association with the ventricular system of the brain. Multiloculated hydrocephalus is a subgroup of this entity involving more than one segment of the ventricular system. Abnormal descent of the cerebellar components can cause multiloculated hydrocephalus due to various pathogenesis. However, studies report no more than 10% of correlation between cerebellar herniation and hydrocephalus. We report an infant with MTHFR A1298C homozygosity, who had hydrocephalus of intrauterine-onset. Alterations in the folate metabolism might lead to congenital hydrocephalus and there is growing data on the prothrombotic effects of MTHFR polymorphisms. To the best of our knowledge, there has been no reported case of MTHFR A1298C homozygosity and intrauterine-onset multiloculated hydrocephalus as a co-existence in the literature.

• 出版日期2013