Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI

Second trimester fetal MRI features in a fetus with TUBB3 gene mutation

“…Ocular anomalies are often present in alpha-dystroglycanopathies, though the absence at an early gestational age does not necessarily exclude the diagnosis [7] . Few cases have been reported showing ocular anomalies on postnatal imaging in a genetically confirmed alpha-dystroglycanopathy whose fetal MRI showed kinking of the brain stem and ventriculomegaly [5] .…”

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

“…Indeed, in our cases, dysgenesis of the brainstem was characteristic and included a specific global elongation of the pons associated with a variable degree of kinking of the brainstem. Interestingly, Amir et al published a case series of brainstem kinking associated with ventriculomegaly and discussed the differential diagnosis which included dystroglycanopathies (as also reported by us), L1CAM ‐related disorders, and tubulinopathies . One of their cases (Case 3) demonstrated an identical supra‐ and infra‐tentorial pattern, including microlissencephaly, with major reduction of the cerebral mantle, voluminous germinal matrices, and the same abnormal elongation of the pons with moderate brainstem kinking.…”

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly

“…The differential diagnosis of prenatal ventriculomegaly and brain stem kinking has been recently widened to include several brain malformations, such as congenital muscular dystrophies, X-linked hydrocephalus caused by L1CAM mutations, microcephaly with lissencephaly and mid-hindbrain involvement, and tubulinopathies. 18,19 Taken together, these data indicate that a kinked brain stem is not a pathognomonic finding, but more likely an indicator of severe neurodysgenesis arising early in gestation and often associated with developmental hydrocephalus. 18 The main limitation of our report is the lack of extensive genetic testing and histology investigation in all cases with pregnancy termination.…”