Article Figures & Data
Figures
- FIG 1.
Coronal T2WI in multiple patients with BBSOAS. Bilateral, symmetric, severe optic nerve volume loss in patient 19, a 6-year-old boy (A) (black arrows); mild-to-moderate volume loss in patient 18, a 3-year-old girl (B) (black arrows); and normal optic nerves in patient 11, a 4.7-year-old girl (C) (black arrows).
- FIG 2.
Patient 2, an 0.8-year-old girl. Coronal T1WI of the orbits demonstrates hypoplastic lacrimal glands (arrows) (A). Patient 11, a 4.7-year-old girl. Coronal T2WI image of the orbits demonstrates normal lacrimal glands (arrows) in comparison (B).
- FIG 3.
Midline sagittal T1WI in multiple patients with BBSOAS. Patient 5, a 0.5-year-old boy. Decreased callosal length with a thinned body, isthmus, and splenium of the corpus callosum (A). Patient 20, a 5-year-old boy. Decreased callosal length with thinning of the isthmus (B). Patient 8, a 2-year-old boy. Decreased callosal length with a thickened genu and body but a thinned splenium (C). Patient 21, a 6-year-old girl. Normal callosal length, thickened genu and body with a thinned splenium (D). Patient 14, a 0.6-year-old girl. Normal callosal length with a thinned splenium (E). Patient 9, a 6-year-old boy. Normal corpus callosum. Incidental note is made of a retrocerebellar arachnoid cyst (F).
- FIG 4.
Coronal 3D T1WI (A–C) demonstrating normal anatomy of the temporal lobes as a reference. PHG indicates parahippocampal gyrus; CS, collateral sulcus; OTG, occipitotemporal gyrus; OTS, occipitotemporal sulcus; ITG, inferior temporal gyrus; ITS, inferior temporal sulcus; MTG, middle temporal gyrus; STS, superior temporal sulcus; STG, superior temporal gyrus; SF, Sylvian fissure.
- FIG 5.
Patient 6, a 16-year-old boy. Coronal 3D T1WI demonstrates dysmorphic Sylvian fissures (stars, A). The anterior temporal lobes appear large with signficant dysgyria (A) and craniocaudal elongated morphology. Dysgyria is noted in the bilateral mesial temporal lobes (boxes, B). Dysgyria broadly involves the posterior right lateral temporal lobe, appearing as gross overgyration with small gyri and shallow sulci (C), with right mesial temporal lobe dygyria still noted. The right Sylvian fissure is signficantly asymmetric to the left (arrows), with an exaggerated upslope (C).
- FIG 6.
Patient 21, a 6-year-old girl. Axial T2WI demonstrates dysgyria of the mesial temporal lobes (stars, A). Coronal T2WI demonstrates dysgyria of the mesial temporal lobes (box, B). Dysgyria broadly involves the posterior right lateral temporal lobe. Both temporal lobes appear elongated craniocaudally. The right Sylvian fissure is signficantly asymmetric to the left (arrows), with an exaggerated upslope (B). Bilateral perisylvian dysgyria is present. Normal findings on axial and coronal T2WI are shown for comparison (C–D). An enlarged perivascular space is incidentally noted on the right (arrow, C). Note the normal, mostly horizontal axis of the Sylvian fissures and the normal anatomy of the temporal lobes and perislyvian parenchyma (arrows) (D).
- FIG 7.
Patient 1, an 8 year-old girl. Axial T2WI demonstrates signficant posterior white matter volume loss (stars, A). Note the thinning of the splenium of the corpus callosum (arrow), similarly seen on the sagittal T1 image (B). Coronal T2WI demonstrates dysmorphic Sylvian fissures bilaterally, with an exaggerated upslope of the fissures bilaterally. Bilateral perisylvian dysgyria is present with craniocaudal elongated temporal lobes bilaterally (arrows, C).
Tables
Pathogenic Variant No. Missense mutation in DNA binding domain of NR2F1 9/21 (43%) Deletions (variable including, among others, NR2F1, FAM172AA, KIAA0825) 4/21 (19%) Translation initiation mutation of NR2F1 3/21 (14%) Missense in ligand binding domain or exon 3 of NR2F1 3/21 (14%) Frameshift mutation of NR2F1 1/21 (5%) Nonsense mutation in exon 3 of NR2F1 1/21 (5%) Phenotypea No. Developmental/intellectual delay 16/19 (84%) Speech delay 17/19 (89%) Autism spectrum disorder or features 16/19 (84%) Unusually strong long-term memory 14/17 (82%) Motor delay 15/19 (79%) Oromotor dysfunction 16/19 (84%) Hypotonia 18/19 (95%) Seizures, infantile spasms 12/19 (63%) ↵a Each row in column 1 has incomplete data.
