engleski

Bilateral schizencephaly in a child with congenital cytomegalovirus infection

Congenital cytomegalovirus (CMV) infection causes multiorgan affection, but the most severe and permanent sequelae are those affecting central nervous system as a result of direct interference of the virus with neurogenesis. We present clinical and neuroimaging results in a 4 month old female patient with CMV infection. Patient is firstborn and mother didn't have any signs of viral infection during pregnancy. During the 25th week of gestation (WG) ventriculomegaly was found by prenatal ultrasound (US), and during 30-32th WG schizencephaly was detected. Results of cordocentesis showed normal XX cariotype. Her BW was 3510g, BL 48cm, Apgar 10/10, head circumference 35cm (85th percentile). Postnatal US confirmed antenatal findings. MSCT showed bilateral schizencephaly with ventriculomegaly and multiple periventricular and parenchymal calcifications, which was clue for diagnosis. Serology on CMV in infant was IgM neg., IgG pos. (3, 7 IU/ml, ref. values>0, 4pos.). MSCT findings were later confirmed by MRI/MR-angiography. Repeated findings of serology on CMV in infant was IgM neg., IgG pos. (0, 9 IU/ml) and in mother IgM neg., IgG pos. (3, 3 IU/ml) while PCR on CMV DNA in serum showed 746 copies/ml and in urine 30500 and repeated >100000 copies/ml. Patient also has hypoplastic optic nerve and pathological findings of visual evoked potentials as well as dysplasia of right hip. Hearing tests were normal. Currently she receives gancyclovir in therapy. It is important to emphasize that in spite of inconclusive findings of CMV serology and viremia revealed by PCR, key for the diagnosis of congenital CMV were findings of MSCT and high viruria.

schizencephaly; congenital cytomegalovirus infection; neuroimaging

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