Premium
Prenatal neuroimaging of progressive ventriculomegaly at 20–21 weeks of gestation – a case report
Author(s) -
Pooh R. K.,
Tanemura M.,
Yamasaki M.,
Pooh K.
Publication year - 2001
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2001.0180s1051.x
Subject(s) - ventriculomegaly , medicine , corpus callosum agenesis , gestation , hydrocephalus , corpus callosum , agenesis , anatomy , pregnancy , fetus , radiology , genetics , biology
Intrauterine course of genetic hydrocephalus has not been revealed. We had a case with progressive ventriculomegaly between 20 and 21 weeks of gestation. A pregnant woman was referred to the ultrasound unit at 20 weeks of gestation. Her 8‐year‐old son had congenital hydrocephalus, gait disturbance, mental retardation and adducted thumbs, but genetic examination was not done. The male fetus had grown normally with normal BPD. However, 2D/3D sonography and fetal magnetic resonance imaging (MRI) demonstrated partial agenesis of the corpus callosum, moderate ventriculomegaly and a small inter‐hemispheric cyst. Ventricular volume by 3D volumetry was estimated as 4.89 mL, which was more than twice as large as normal ventricle size. Subarachnoid space appeared normally. At 21 weeks of gestation, ventricular volume markedly increased to 8.29 mL within 7 days. Furthermore, 2D/3D ultrasound revealed the bilateral adducted thumbs. Genetic hydrocephalus, such as corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH) syndrome was strongly suspected from those sonographic findings. Pregnancy was terminated at the end of 21 weeks of gestation. Genetic examination by direct sequenced PCR resulted in a point mutation at Intron 6 of L1CAM located at Xp28. In our case, prodromic sign of progressive hydrocephalus was suspected by USG and MRI at the middle of gestation. Especially, 3D volumetry was useful for the assessment of the objective evaluation of the progressive ventriculomegaly.