Article Figures & Data
Figures
- Fig 1.
Patient H. High-resolution 3D T2 MR imaging. Axial views through the cochlea and lateral SCC show a cochlea reduced in size with a flattened aspect of the midturn and apex; an enlarged vestibule; and a lateral SCC with a small diameter, a thin arch, and a small bone island. The basal turn was normal in this patient (not shown). The left cochlea is thinner than the right; this finding was confirmed by oblique sagittal views perpendicular to the nerves (not shown).
- Fig 2.
Patient J. CT. Axial views (A and B) through the cochlea and the vestibule show the flattened apex and midturn of the cochlea. The vestibular cavity is large and shows evaginations that could represent SCC anlages. The vestibular aqueduct is visible and is not dilated. Coronal view (C) favors the hypothesis of a lateral SCC anlagen. The superior SCCs are absent, but the superior margin of the vestibule is convex and a small anlagen cannot be excluded.
- Fig 3.
Different patterns of semicircular canal abnormalities shown on high-resolution axial CT (right ear), confirmed by multiplanar reconstructions for the posterior and superior SCCs: posterior SCC with a thick arch of small diameter (A and D); posterior SCC agenesis or potential SCC anlage (B, C, E, and F); superior SCC agenesis or potential SCC anlage (E and F); lateral SCC agenesis or potential SCC anlage (E and F); lateral SCC with a thick arch of small diameter (A and D); lateral SCC with a thin arch of small diameter (B); and lateral SCC with a thin arch of large diameter (C).
- Fig 4.
Patient M. CT. Axial views (A and B) through the cochlea and the vestibule show a small cochlea, flattened with a partition hardly visible and atresia of cochlear nerve canals, an enlarged vestibular cavity, and agenesis of all of the semicircular canals. Coronal view (C) confirms the absence of the superior and lateral SCC. Posterior deformity of the vestibule cannot exclude an anlage.
- Fig 5.
Patient B. 3D T2 TSE MR image driven equilibrium (Philips). Reformatted axial view in the lateral SCC plane (A) and maximum intensity projection of the superior and posterior SCC (B and C). Same patient as in Fig 2C. Axial view shows a short linear structure along the posterior aspect of the lateral SCC, but multiplanar reformations and maximum intensity projection demonstrate a deformity of the posterior aspect of the vestibule and no posterior SCC. The superior SCC has a thin arch with a large diameter. Hypersignal of the inferior cerebellar peduncles is noticeable due to hypomyelination.
Tables
Patient Age at MRI/CT Cochlea Cochlear Nerve Vestibule Posterior SCC Superior SCC Lateral SCC A ?/? Flattened Present Enlarged Agenesis N Large arch, thin B 32 mo/32 mo Small Present Enlarged Small arch, thick Large arch, thin Large arch, thin C 32 mo/32 mo Small Present Enlarged Small arch, thick N Small arch, thick D1b 5 wk/– Small, flattened Present Enlarged Small arch, thick Small arch, thick Small arch, thick D2b 2 mo/2 mo Small, flattened Present Enlarged N R: small arch, thick L: N Small arch, thick E 3 yr/3 yr Flattened Present Enlarged Agenesis Agenesis R: agenesis; L: small arch, thick F 2 mo/– Small, flattened Absent Enlarged Agenesis Agenesis R: agenesis; L: small, thin G 5 yr/5 yr Flattened Present Enlarged Agenesis Agenesis Agenesis H 18 yr/– Small, flattened R: present; L: present, thin Enlarged Agenesis Agenesis Small, thin I 20 mo/20 mo Small, flattened Present Enlarged Agenesis Small arch, thick R: small, thin, incomplete; L: small, thin J 4 yr/4 yr Small, flattened R: present; L: absent Enlarged Agenesis Agenesis Agenesis K 18 mo/18 mo N Present Enlarged Agenesis Agenesis Small, thin L –/16 yr Small N/A R: enlarged; L: N Small arch, thick Agenesis Small arch, thick M 8 days/ 8 days Small, flattened Absent Enlarged Agenesis Agenesis Agenesis N 31 yr/31 yr Flattened Present Enlarged Agenesis Small arch, thick Small arch, thick Agenesis or absence (%) 21 67 53 33 Defect (%) 93 29 100 93 87 100 Note:—N indicates normal; N/A, could not be analyzed; R, right; and L, left; –, not performed; ?, age unknown.
↵a When right or left is not specified, the same findings were observed in both sides. In the case of an asymmetric defect, the percentage of absence and/or defects was calculated on the basis of the more severe side.
↵b Brothers.
Patient Age at MRI/CT Facial Nerve Posterior Fossa White Matter Olfactory Bulbs Lacrimal Glands Parotid Glands A ?/? Present N N N/A Hypoplastic N/A B 32 mo/32 mo Present ICP Abnormal Agenesis ×2 Hypoplastic Hypoplastic C 32 mo/32 mo Present N N Agenesis ×2 N N D1a 5 wk/– Present N Abnormal N/A Hypoplastic Hypoplastic D2a 2 mo/2 mo Present N N N/A Hypoplastic Hypoplastic E 3 yr/3 yr Present N N Agenesis ×2 Hypoplastic Hypoplastic F 2 mo/– Right agenesis Hypoplastic brain stem Abnormal Agenesis ×2 Absent Hypoplastic G 5 yr/5 yr Present N N N/A N Hypoplastic H 18 yr/– Present N Large VRS Agenesis ×2 Absent Hypoplastic I 20 mo/20 mo Present N Abnormal Agenesis ×2 N N J 4 yr/4 yr Present N N N/A Hypoplastic Hypoplastic K 18 mo/18 mo Present N Abnormal N/A Hypoplastic Hypoplastic L –/16 yr N/A N/A N/A N/A N/A Hypoplastic M 8 days/ 8 days Present N Abnormal Presents Hypoplastic Hypoplastic N 31 yr/31 yr Present N N/A Agenesis ×2 Hypoplastic Hypoplastic Agenesis or absence (%) 7 88 14 Defect (%) 14 50 79 85 Note:—N indicates normal; N/A, could not be analyzed; R, right; and L, left; –, not performed; ?, age unknown; ICP, inferior cerebellar peduncles; VRS, Virchow Robin spaces; ×2, similar findings on both sides.
↵a Brothers.
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