Article Figures & Data
Figures
- FIG 1.
Axial CT with thin bone reformats in patient 1. The WWS phenotype and POMT1 variant (A, B, and C) show a characteristic CH4 AOUT with a normal basal turn (arrows in A and B) and a very hypoplastic and anteromedially displaced upper part of the cochlea (dashed arrow in C). The abnormality was symmetric on both sides. Note the normal appearance of the semicircular canals and vestibule. The vestibular aqueducts (asterisk in A and B), despite looking slightly enlarged on subjective analysis, were within normal limits when measured. A normal cochlea for comparison (D, E, and F) shows well-developed middle and apical turns (arrowhead in F).
- FIG 2.
3D volume-rendering of the CH4 AOUT in patient 2 with a WWS phenotype and POMT1 variant (A) in comparison with a healthy control (B). Note the marked cochlear hypoplasia in A (arrow) in comparison with normal 2½ cochlear turns in B. The vestibule and lateral semicircular canals are normal in both patients.
- FIG 3.
A variable cochlear appearance in MEB phenotypes. High-resolution steady-state (CISS) images in patient 19 (A and B) show a pronounced hypoplastic cochlea, similar to the cases of WWS with a small “budlike” protuberance that is anteriorly offset (arrows in B). Axial T2 (section thickness, 3 mm) in patient 20 shows a hypoplastic cochlea with a more developed middle turn (arrows in C and D) and visualization of medial interscalar septum (thin dotted arrow). Note the thin linear hypointensity within the fluid signal of the basal turn, in keeping with a preserved lamina spiralis well-seen in both patients (double arrow in C).
Tables
Demographic, genetic and radiological characteristics of the patients
Sex Age at Imaging Clinicoradiologic Phenotype Genetic Mutation Cochlear Phenotype Imaging Where Cochlea Was Assessed Patient 1 M 5 mo WWS POMT1 CH4 AOUT MR imaging brain, CT brain Patient 2 M 3 mo WWS POMT1 CH4 AOUT MR imaging brain, CT brain Patient 3 F 15 days WWS POMT2 CH4 AOUT MR imaging brain, CT brain Patient 4 F 1 day WWS POMT1 CH4 AOUT MR imaging brain (axial T2) Patient 5 M 1 day WWS FKRP CH4 AOUT MR imaging brain, CT brain Patient 6 M 4 yr WWS Not available CH 4 (less severe phenotype) MR imaging brain (axial T2) Patient 7 F 2 mo WWS Not available CH4 AOUT MR imaging brain (axial T2) Patient 8 M 9 days WWS Not available CH4 AOUT MR imaging brain (axial T2) Patient 9 F 4 mo WWS B3GNT1 CH4 AOUT MR imaging brain, CT brain Patient 10 F 18 mo WWS FKTN CH4 AOUT MR imaging brain, CT brain Patient 11 F 7 mo WWS POMT1 CH4 AOUT MR imaging brain, CT brain, 3D T2 IAMs Patient 12 M 3 mo WWS Not available CH4 AOUT MR imaging brain (axial T2) Patient 13 F 2 mo WWS Not available CH4 AOUT MR imaging brain (axial T2) Patient 14 M 2.5 yr MEB POMGnT1 CH 4 (less severe phenotype) MR imaging brain (axial T2) Patient 15 F 7 yr MEB POMGNT1 Normal MR imaging brain, CT brain Patient 16 M 3 mo MEB POMGnT1 Normal MR imaging brain, CT brain Patient 17 M 2 days MEB POMGnT1 Normal MR imaging brain (axial T2) Patient 18 M 21 yr MEB POMGnT1 Normal MR imaging brain (axial T2) Patient 19 M 1 yr MEB POMT2 CH4 AOUT MR imaging brain (axial T2), 3D-T2 IAMs Patient 20 M 11 mo MEB POMGNT2 CH 4 (less severe phenotype) MR imaging brain (axial T2) Patient 21 M 9 mo MEB Not available Normal MR imaging brain (axial T2) Patient 22 M 6 mo Fukuyama FKRP Normal MR imaging brain (axial T2) Patient 23 F 2 days Fukuyama FKRP CH 4 (less severe phenotype) MR imaging brain, CT brain Patient 24 F 14 mo Fukuyama Not available Normal MR imaging brain (axial T2) Note:—IAMs indicates internal auditory meatus.
