Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2002
Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.
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Ceruti S, Stinckens C, Cremers C W R J, Casselman J W
Аннотация
OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome.
STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome.
SETTING: Department of medical imaging and magnetic resonance imaging at St. Jan Brugge, Brugge, Belgium.
PATIENTS: Eight affected members of a Belgian family. Younger affected family members were excluded because of their age.
RESULTS: Computed tomography showed inner ear malformations in all eight affected patients. Magnetic resonance imaging was performed on five patients and showed inner ear malformations. To define hypoplasia or congenital enlargement of the inner ear structures, measurements obtained from a control group of normal subjects were used for comparison. Almost symmetrical cochlear abnormalities were observed on the three-dimensional Fourier transformation-constructive interference in steady state images of the five patients who underwent magnetic resonance imaging; four had dysplasia of the cochlea, and one had hypoplasia. The vestibule was slightly enlarged in one patient; computed tomography and magnetic resonance imaging showed semicircular canal malformations. Magnetic resonance imaging clearly showed bilateral enlarged endolymphatic sacs and ducts, whereas computed tomography showed only unilateral widening of the vestibular aqueduct and borderline widening of the vestibular aqueduct. Magnetic resonance imaging showed bilateral hypoplasia of the cochlear branch of the eighth nerve in one patient.
CONCLUSION: Hypoplasia and dysplasia of the cochlea were consistent findings, and only magnetic resonance imaging was able to evaluate the intracochlear changes in detail and corrected computed tomography in most patients. Moreover, magnetic resonance imaging also detected bilateral hypoplasia of the cochlear branch of the eighth nerve in one patient. A widened vestibular aqueduct and a widened vestibular sac were frequent but not obligatory features of the BOR syndrome. Other malformations of the middle ear included a reduced middle ear cavity and malformations of the ossicular chain.
STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome.
SETTING: Department of medical imaging and magnetic resonance imaging at St. Jan Brugge, Brugge, Belgium.
PATIENTS: Eight affected members of a Belgian family. Younger affected family members were excluded because of their age.
RESULTS: Computed tomography showed inner ear malformations in all eight affected patients. Magnetic resonance imaging was performed on five patients and showed inner ear malformations. To define hypoplasia or congenital enlargement of the inner ear structures, measurements obtained from a control group of normal subjects were used for comparison. Almost symmetrical cochlear abnormalities were observed on the three-dimensional Fourier transformation-constructive interference in steady state images of the five patients who underwent magnetic resonance imaging; four had dysplasia of the cochlea, and one had hypoplasia. The vestibule was slightly enlarged in one patient; computed tomography and magnetic resonance imaging showed semicircular canal malformations. Magnetic resonance imaging clearly showed bilateral enlarged endolymphatic sacs and ducts, whereas computed tomography showed only unilateral widening of the vestibular aqueduct and borderline widening of the vestibular aqueduct. Magnetic resonance imaging showed bilateral hypoplasia of the cochlear branch of the eighth nerve in one patient.
CONCLUSION: Hypoplasia and dysplasia of the cochlea were consistent findings, and only magnetic resonance imaging was able to evaluate the intracochlear changes in detail and corrected computed tomography in most patients. Moreover, magnetic resonance imaging also detected bilateral hypoplasia of the cochlear branch of the eighth nerve in one patient. A widened vestibular aqueduct and a widened vestibular sac were frequent but not obligatory features of the BOR syndrome. Other malformations of the middle ear included a reduced middle ear cavity and malformations of the ossicular chain.