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EP06.10: Prenatal diagnosis of tubulinopathies (persistent ganglionic eminences)
Author(s) -
Sardarova E.Y.,
Hamidova N.A.,
Haratz K.K.,
Farajov A.T.
Publication year - 2019
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 - 10.1002/uog.21210
Subject(s) - tegmentum , medicine , anatomy , rostrum , splenium , dysgenesis , corpus callosum , midbrain , brainstem , ventriculomegaly , septum pellucidum , pons , third ventricle , cerebellar vermis , coronal plane , magnetic resonance imaging , cerebellum , radiology , central nervous system , fetus , diffusion mri , biology , pregnancy , genetics , botany , genus
RESULTS: Dedicated neurosonographic examination identified mild ventriculomegaly (13 mm) with abnormal shape, slightly asymmetric, which were dilated and angulated and also 3 ventricle dilatation. The ventricular walls were mildly irregular, a defused brain anomaly was identified with callosal dysgenesis (short and thin CC lacking the rostrum, part of the genu and the splenium) and brain asymmetry was observed, not in size but regarding to the gyri and sulci distribution on the brain surface. The Sylvian fissures were quite asymmetric and operculization was abnormal in both sides. The calcarine sulci were absent and the parieto-occipital were shallow. In coronal view aberrant frontal sulcation was observed unilaterally. These findings were hard to classify, but met the criteria for disgyria with suspected areas of PMG. Additionally, the basal ganglia were very dysmorphic with enlarged caudates and a big massa intermedia. The brainstem was hypoplastic and kinked and the basilar pons prominence was flattened. The midbrain tegmentum was thin, the tectum was enlarged and the aqueduct obstructed distally. The TCD was normal, but vermis was dysgenetic or possibly absent.