Second trimester fetal MRI features in a fetus with TUBB3 gene mutation
| Autor: | Terri Love, Angela Beavers, Mounika Guduru, Andria Powers |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
lcsh:Medical physics. Medical radiology. Nuclear medicine
Pathology medicine.medical_specialty Brain malformation Cerebellar hypoplasia lcsh:R895-920 Central nervous system Case Report Gene mutation 030218 nuclear medicine & medical imaging 03 medical and health sciences Brainstem kinking 0302 clinical medicine medicine Radiology Nuclear Medicine and imaging Agenesis of the corpus callosum Genetic testing TUBB3 Fetus medicine.diagnostic_test TUBB3 mutation business.industry Fetal ventriculomegaly medicine.disease Tubulinopathy medicine.anatomical_structure Differential diagnosis business 030217 neurology & neurosurgery Ventriculomegaly |
| Zdroj: | Radiology Case Reports Radiology Case Reports, Vol 16, Iss 2, Pp 381-383 (2021) |
| ISSN: | 1930-0433 |
| DOI: | 10.1016/j.radcr.2020.11.039 |
| Popis: | Tubulinopathies are a heterogeneous group of complex cortical malformations that are associated with mutations in tubulin genes. TUBB3 gene mutation is associated with a broader spectrum of central nervous system malformations and constitutes about 10% of all tubulinopathies. The diagnosis may not be immediately apparent on imaging, though the differential diagnosis may be narrowed based on imaging findings and allow for more directed genetic testing. We report a 22-year-old gravida-1 nulliparous female whose routine second trimester fetal ultrasound revealed ventriculomegaly and possible agenesis of the corpus callosum. Fetal magnetic resonance imaging showed severe lateral and third ventriculomegaly and a dysplastic, z-shaped brainstem without any evidence of ocular abnormalities. Genetic testing revealed a pathogenic mutation in TUBB3. |
| Databáze: | OpenAIRE |
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