Prenatal Microcephaly and Hydrocephalus and Normal Heart Anatomy, Postnatal Diagnosis of Nijmegen Syndrome - Case Report

Abstract

Nijmengen breakage syndrome is a rare autosomal condition mainly characterized by microcephaly. Patients are predisposed to malignancies due to combined immunodeficiency. The presented patient had prenatally diagnosed microcephaly with atypical ventriculomegaly of occipital horns. Fetal echocardiography showed a normal fetal heart anatomy. Diagnosis of Nijmengen syndrome was confirmed postnatally. The differential diagnosis of fetal microcephaly should take into account intrauterine infections, perinatal brain injury, congenital malformations or biological variants.

Differential diagnosis in disproportion in four‐chamber view in fetus in late pregnancy—Challenging dilemma

“…The authors believe that the consequence of this condition is an enlargement of the right atrium and ventricle due to the redistribution of blood, which may be a direct basis of a reduced flow through the aorta and cause of disproportion 10 . Umbilical cord wrapping around the neck and trunk, besides appearance of blood flow disturbances can be a cause of multi‐site perinatal trauma 25 …”