Imaging revealed that 7 of 12 patients had dehiscence into a highriding jugular bulb and 1 patient had an enlarged vestibular aqueduct with a mondini malformation. Individuals with mondini dysplasia have one and a half coils of the cochlea instead of the normal two coils. The embryology, clinical features, and management of congenital anomalies of the ear. Outcomes in cochlear implantation in mondini dysplasia. Ct and mr imaging of the inner ear and brain in children. Anatomists, radiologists and surgeons were involved in this amazing field. Extremely discrepant mutation spectrum of slc26a4 between. Sensorineural hearing loss and mondini dysplasia caused by a.
Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. Congenital anomalies result from errors in embryogenesis malformations or intrauterine events that affect embryonic and fetal growth deformations and disruptions 1. A rare disorder where a part of the ear cochlea fails to develop completely causing hearing loss. The condition was first described in 1791 by the physician carlo mondini in an article titled the anatomic section of a boy born deaf. Research article open access role of multislice computed.
Magnetic resonance imaging confirmed the abnormalities and mondini malformation. Measurement for detection of incomplete partition type ii anomalies. Anomaly of the facial canal in a mondini malformation with. A mondini malformation is an inner ear abnormality that consists a triad. It is more often bilateral than unilateral and is associated with the mondini malformation of the cochlea in about 8% of cases 1.
Thus, the ipii anomaly may be underrecognized on mr imaging. Sensorineural hearing loss and mondini dysplasia caused by a deletion at locus dfn3. Hartley of rugby, england, with comments by peter d. The hearing loss may be gradual or sudden and the severity may be vary from normal hearing to complete hearing loss. Statistical analysis was performed with graphpad prism software graphpad. Terminology the term is often used inappropriately to describe any cochlear abnormality, rather than a specific t. Mondinilike malformation mimicking otosclerosis and. It may occur in one ear unilateral or both ears bilateral and can cause varying degrees of sensorineural hearing loss, although most individuals have profound hearing loss.
Linkage analysis was carried out with the linkage 5. Patients with shfm1 harbour deletions, translocations, and inversions in chromosomal region 7q21q22. Mondini deformity refers to the absence of the apical modiolus and interscalar septum, resulting in an incomplete partitioning of the cochlea together with an enlarged vestibular aqueduct eva and dilated vestibule. It was first described in 1791 by carlo mondini after dissecting the inner ear of an 8yearold deaf boy. Mr angiography showed no arterial or early venous enhancement. For optimal interpretation of highresolution ct and mr images obtained in children with congenital sensorineural hearing loss, the radiologist must have a comprehensive knowledge of the embryologic development of normal inner ear structures as well as the spectrum of. In patients with congenitally acquired anomalous inner ears, highresolution computed tomography ct scanning and magnetic resonance imaging mri, of the temporal bone, are the diagnostic tools of choice in diagnosing the disorder. This information is invaluable with increasing use of hearing restoration surgeries andor cochlear implants in such patients. A boy with homozygous microdeletion of neurog1 presents. Muranjan mnbharucha bakirtane mvdeshmukh ct mondini dysplasia of the. Auditory and speech language development of a child with. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for mondini cochlear malformation. Malformazione complessa dellorecchio interno a tipo. Volumerendered image reconstructions of the cochlea and vestibulum, frontal view, visualizing various abnormalities.
Mutation analysis of the slc26a4, foxi1 and kcnj10 genes. A mother with a child with mondini dysplasia supporting. This deformity was first described in 1791 by mondini after examining the inner ear of a deaf boy. Enlarged vestibular aqueduct eva is the most frequent inner ear abnormality found on computed tomography in children with sensorineural hearing loss. Common clinical features of children with enlarged. The image results were correlated with causes and origins, hearing loss patterns, hearing levels, and audiogram configurations.
Background in june 2002, the food and drug administration received reports of bacterial meningitis in patients with cochlear implants for treatment of hearing loss. Magnetic resolution image mri, intraoperative findings, postoperative data and speech perception. Tray sealing technology, platform technology and filling systems. Statistical analyses were performed using the spss. Mondini malformation is a historical term used to described incomplete partition type ii anomaly with large vestibular aqueduct. In this study, the imaging diagnostic criterion of isolated mondini is a cochlea. The more complex the formation of a structure, the more opportunities for malformation. Mondini like malformation mimicking otosclerosis and superior semicircular canal dehiscence. Mondini syndrome, also known as mondini dysplasia or a mondini malformation, describes a condition where the cochlea is incomplete, with only one and a half turns instead of the normal two and a half turns. What is a mondini and what difference does a name make.
Image guided navigation by intraoperative ct scan for cochlear implantation article in computer aided surgery 173. Inner ear malformations are found in 15%20% of patients with severe or profound sensorineural hearing loss. One patient had apert syndrome and another patient had microtiaatresia. Tomography showed an aberrant first portion of the facial nerve canal, while on cisternography, communication between the internal auditory canal and the dilated labyrinthine remnant was evident. Image guided navigation by intraoperative ct scan for. A chinese colleague wrote to me about a young mother in shanghai who has a baby girl born with mondini dysplasia. A second possible sign for pendred syndrome, revealed by imaging, is mondini malformation mm. Mondini malformation is the term often used to describe any inner ear dysplasia, but more precisely it refers to lack of normal 2.
Ctscans of cochlear implant patients with characteristics of. Mondini dysplasia symptoms, diagnosis, treatments and. Visualization of inner ear dysplasias in patients with sensorineural. Mondini dysplasia is a type of inner ear malformation that is present at birth, in which affected individuals have one and one half coils of the cochlea instead of the normal two coils. The cochlea can be affected by a number of malformations, 14 ranging from absence of a single turn mondini syndrome to complete absence of all turns common cavity 2, 4. Computed tomography of the temporal bone or magnetic resonance imaging can reveal mondini dysplasia an incomplete number of turns in the cochlea, which is seen in pendred syndrome, or other structural anomalies of the inner ear, such as fistulae, which would have management implications. The scientific report written in latin by carlo mondini in 1791, titled the anatomic section of a boy born deaf 11, has been often cited but seldom read. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. Developed by renowned radiologists in each specialty, statdx provides comprehensive decision support you can rely on cochlear incomplete partition type ii ipii.
It may be unilateral or bilateral and can cause sensorineural hearing loss and a predisposition. The most common finding was the mondini malformation or one of its variants. Mondini dysplasia is a type of inner ear malformation that is present at birth congenital. Mondini dysplasia genetic and rare diseases information. If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. A mondini malformation occurs when there is a disruption in the development of the inner ear during the seventh week of gestation. Mondini malformation is a historical term used to describe an incomplete partition type ii anomaly with large vestibular aqueduct. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Hearing loss may start in childhood or early adulthood. Kelly, in developmentalbehavioral pediatrics fourth edition, 2009. Mondini dysplasia associated to recurrent bacterial meningitisa clinical and imaging correlation. A patient with recurrent meningitis and congenital hearing loss was evaluated with tomography and metrizamide cisternography.
Information and translations of mondini dysplasia in the most comprehensive dictionary definitions resource on the web. Overall, the auditory skills of young children with mondini dysplasia. Enlargement of the vestibular aqueduct and its contents is the most common component of congenital inner ear dysplasias. More than two hundred years ago, the italian carlo mondini described the first inner ear malformation iem. Seventeen had normal development of cochlear morphology, four had large vestibular aqueduct syndrome lvas, six had mondini malformation, and three had internal auditory canal stenosis. Highresolution ct and mr imaging play an important role in the evaluation of pediatric hearing loss by providing crucial information about the inner ear, vestibulocochlear nerve, and brain. Threedimensional imaging of the inner ear by volumerendered. Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Threedimensional imaging of the inner ear by volume.
Mondini s malformation, a cochlear defect of the modiolus with absent or defective spiral turns and deformity of the vestibule and the semicircular canals associated with multiple abnormalities of the cervical vertebrae klippelfeil syndrome probably originates from a common disturbance occurring during embryonic life when the neural tube. Thirty patients with residual hearing after therapy for artificial cochlear implantation of similar symptoms were taken. Risk of bacterial meningitis in children with cochlear. Mondini dysplasia, also known as mondini malformation and mondini defect, is an abnormality of the inner ear that is associated with sensorineural hearing loss. Among them, 28 patients with isolated mondini dysplasia md group. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The spectrum of aplasticdysplastic labyrinthine malformations adlm. Outcomes in cochlear implantation in mondini dysplasia show all authors. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. Radiological assessment of the indian children with.
Abstract in 2003, it was reported that superior semicircular canal dehiscence can mimic otosclerosis because of lowfrequency bone conduction hearing gain and dissipation. From that moment, a lot of authors from all over the world put their effort on the discovery, description and classification of iems. Palo alto, calif and a software package with a module for volume rendering easy vision. This is the type of cochlea originally described by carlo mondini and together with a minimally dilated vestibule and large vestibular aqueduct it constitutes the triad of the mondini deformity. Cranial computed tomography imaging showed bilateral stenosis of the internal auditory canal with a maximum diameter of 1. The development of auditory skills in young children with mondini. Mondini dysplasia an overview sciencedirect topics. List of 5 disease causes of mondini cochlear malformation, patient stories, diagnostic guides. Split handfoot malformation type i shfm1, omim 183600 is an autosomal dominant developmental disorder of limb formation that results in the absence of the central digital rays, deep median clefts, and syndactyly of the remaining digits. A, mondini malformation, showing an incomplete cochlea partition arrow. Congenital malformations of the temporal bone radiology key.
Recent developments in ct software technology have made it possible to rapidly generate the threedimensional. This article discusses the embryogenesis, classification system, and. In patients with cochlear malformation, cochlear implantation is technically possible, but different malformations require specific ci surgical techniques as standard techniques e. The most common malformations were enlarged vestibular aqueduct, incomplete partition of cochlea mondini dysplasia, large vestibule, and semicircular. On a stir image, the venous malformation is hyperintense and has a multilocular appearance due to abnormal venous lakes separated by thin hypointense septa. Recently, the american journal of otology published an english translation by gordon j. The aims of this work were to study the diagnostic value of high resolution computed. Cochlear implant outcomes and genetic mutations in. Sensorineural hearing loss and mondini dysplasia caused by. Inner ear malformation was present in 114 38% ears. The malformation of incomplete partition type ii mondini malformation represents cochlea in which only the basal part of the modiolus is present. This may affect one or both ears and may be isolated or occur with other ear malformations or syndromes. Listing a study does not mean it has been evaluated by the u. Because imaging analysis is not routinely ordered on children with phenotypically nonsyndromic snhl prior to slc26a4 sequencing, imaging analysis results were available for only a portion of the subjects n 46107.
Axial ct of the right temporal bone shows a globular appearing cochlea and a markedly dilated vestibular aqueduct. Mondini malformation and vestibular aqueduct syndrome. From mondini to the latest inner ear malformations. Conclusion a familial mondini dysplasia is associated to a microdeletion at the.
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