Hearing impairment may be the only manifestation of mondini dysplasia, and the. Mondini dysplasia was demonstrated with computed tomographic scans of the temporal bones in. Apr 25, 2020 mondini malformation is a historical term used to described incomplete partition abnormalities michel deformity, cochlear aplasia and cochlear hypoplasia. Jun hyeong kang, md, young hoon kim, md, gi chule kim, md, and joong hwan cho, md.
The relationship between mutations in slc26a4 and mondini deformity without enlarged vestibular aqueduct has not been studied in any. One of the most common cochlear abnormalities seen in cochlear implant surgery patients is mondini dysplasia, as described by carlo mondini in. Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Outcomes in cochlear implantation in incomplete partition. Extremely discrepant mutation spectrum of slc26a4 between. We describe an elevenyearold female child who presented with the fifth recurrent episode of pyogenic meningitis and unilateral sensorineural deafness. Mondini dysplasia is characterized by a short flat cochlea, large vestibule, wide, small or missing semicircular canals, and immature sensorineural structures. Mondini dysplasia, also known as mondini malformation and mondini defect, is an abnormality of the inner ear that is associated with sensorineural hearing loss this deformity was first described in 1791 by mondini after examining the inner ear of a deaf boy. Jun 26, 2019 the mondini dysplasia can occur in cases of pendred syndrome and branchiootorenal syndrome and in other syndromes, but can occur in nonsyndromic deafness.
Enlarged vestibular aqueduct and mondini malformation. We experienced a case of recurrent meningitis due to mondini dysplasia. The mondini dysplasiafrom early diagnosis to cochlear implant. Children with mondini dysplasia are predisposed to developing a spontaneous cerebrospinal fluid csf leak and recurrent meningitis. 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. These cases have been described in various publications.
The early diagnosis of the mondini dysplasia by means of electrocochleography and temporal bone polytomography. Feb 24, 2012 mondini dysplasia usually occurs sporadically as an isolated abnormality occurring in only one individual in a family with no other abnormalities but it can be associated with a variety of syndromes including klippel feil syndrome, pendred syndrome, digeorge syndrome, wildervanck syndrome, fountain syndrome, johansonblizzard syndrome, and some chromosomal trisomies. Both eva and mondini dysplasia normal cochlear spiral of 212 turns was replaced by. Mondini dysplasia and congenital cytomegalovirus infection. Mondini dysplasia was demonstrated with computed tomographic scans of the temporal bones in the search for pathogenesis of. 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. Oct 20, 2009 the observed inheritance and clinical, audiologic, and radiologic findings are different from those previously described for another family with nonsyndromic mondini dysplasia. The mondini dysplasia represents a developmental arrest during the embryogenesis of the inner ear. Mondini dysplasia an overview sciencedirect topics. Prognosis depends on the severity of the renal disease. Apr 06, 2006 mondini dysplasia, which was first described in 1791 by carlo mondini, is a developmental defect of the otic capsule, resulting from arrested development during the seventh week of fetal life. Mondini dysplasia is not associated with meningitis and.
Mondini dysplasia is thought to be the result of developmental abnormality around the seventh week of the embryonic development. Recurrent streptococcus pneumoniae meningitis in a child with. Usher syndrome can be classified into 3 different types on the basis of clinical findings. The development of auditory skills in young children with mondini.
Mondini dysplasia and pyogenic meningitis springerlink. Sep 23, 2014 the mean scores for all auditory skills in children with mondini dysplasia showed significant improvement over time. Mondini dysplasia is a congenital malformation of the inner ear most commonly associated with csf fistula in the temporal bone in children. Feb 24, 2012 mondini dysplasia is a type of inner ear malformation that is present at birth. Recurrent bacterial meningitis associated with mondini. Caroosorio e, espinoojeda a, guevaramaldonado l, herreacastro jc. The mutated pendred syndrome gene pds slc26a4 is a member of the solute carrier protein 26 anion transporter family, and the gene product pendrin is a. Sensorineural hearing loss and mondini dysplasia caused by. Cochlear implantation in children with mondini dysplasia. Mondini dysplasia usually occurs sporadically as an isolated abnormality occurring in only one individual in a family with no other abnormalities but it can be associated with a variety of syndromes including klippel feil syndrome, pendred syndrome, digeorge syndrome, wildervanck syndrome, fountain syndrome, johansonblizzard syndrome, and some chromosomal trisomies. Three cases of cochlear implants in mondini dysplasia abstract mondini dysplasia is a kind of cochlear malformation caused by a failure growth of cochlea in the seventh week of pregnancy, results in cochlear turn which only reaches 1,5 turn until less than 2,5 turn. We are dismayed, therefore, that so much confusion persists in the us. They were found to present specific medi cal and educational problems.
Case report recurrent bacterial meningitis in a child with. Aug 12, 2019 mondini dysplasia associated to recurrent bacterial meningitisa clinical and imaging correlation. Bauman nm1, kirbykeyser lj, dolan kd, wexler d, gantz bj, mccabe bf, bale jf jr. Imaging of congenital temporal bone anomalies operative. The mondini dysplasia describes a cochlea with incomplete partitioning and a reduced number of turns, an enlarged vestibular aqueduct.
Peripheral vestibular pathology in mondini dysplasia kaya. The mondini dysplasiafrom early diagnosis to cochlear. If you have problems viewing pdf files, download the latest version of adobe reader. Until now, conventional hearing aids in these patients have not performed well. The cochlea characteristically consists of one and a half turns instead of the normal two and a half turns in association with a defect of the interscalar septum. Jan 19, 2020 mondini dysplasia associated to recurrent bacterial meningitisa clinical and imaging correlation. The use of cochlear implantation to treat patients with inner ear malformations such as mondini dysplasia has been increasingly successful. Mondini dysplasia runs of 2 12 turns is replaced by a hypoplastic coil was defined by a complex malformation in which the of 1 12 turns. The condition was first described in 1791 by the physician carlo mondini in an article titled the anatomic section of a boy born deaf. Recurrent bacterial meningitis in a child with mondini. Slc26a4 gene cause mondini deformity without an enlarged vestibular aqueduct isolated mondini deformity in a chinese population. Mondini dysplasia mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Mondini dysplasia, also known as mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid csf leakage, and recurrent bacterial meningitis rbm, which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. Among them, 28 patients with isolated mondini dysplasia md group, 50 patients with.
Objectiveto study a family with inner ear malformations and sensorineural hearing loss. Ther reason is that these deformities cannot be diagnosed on ct scan, as ct scans are not able to define abnormalities of the membranous labyrinth. Pdf mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Utility of magnetic resonance cisternography with intrathecal. Unfortunately, the term mondini dysplasia has come to mean virtually any congenital malformation. Recurrent streptococcus pneumoniae meningitis in a child. Lvas was first described in 1978 by valvassori and.
Mondini dysplasia is a rare malformation of the inner ear commonly associated with loss of hearing and vestibular function. Recently, the american journal of otology published an english translation by gordon j. Often mondini s description of the anomaly is correctly acknowl. Mondini dysplasia is a type of inner ear malformation that is present at birth. Pdf hearing loss associated with enlarged vestibular. Jun 18, 2020 mondini malformation is a historical term used to described incomplete partition abnormalities michel deformity, cochlear aplasia and cochlear hypoplasia. There is sensorineural hearing loss in mondini dysplasia caused by anatomical.
It may be associated with hypoplastic modiolus, large vestibule. Originals of mondini s publication known to exist in the united states are in the collections of. Recurrent bacterial meningitis associated with mondini dysplasia. Mondini dysplasia as an inclusive term will only obstruct this progress. Mondini dysplasia associated to recurrent bacterial meningitisa clinical and imaging correlation. Aug 08, 2019 mondini malformation is a historical term used to described incomplete partition abnormalities michel deformity, cochlear aplasia and cochlear hypoplasia. This report highlights the case of a patient with mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and. Pdf on jun 5, 20, rozita jalilian and others published genetics of mondini. As in the otologic literature, confusion of terminology about mondini s dysplasia has often occurred in the radiologic literature, even among otherwise superb publications. The early diagnosis of the mondini dysplasia by means of electrocochleography and temporal bone polytomography, and the prevention of further hearing loss through the endolymphatic subarachnoid shunt operation, brought new data on the followup of patients. What is a mondini and what difference does a name make. The mondini dysplasia also has been reported as an isolated finding in nonsyndromic cases, 10,21 and families with congenital sensorineural hearing loss with autosomal dominant inheritance 22 and presumed autosomal recessive inheritance 23 have been described, but in none of these cases was the genetic defect identified. Hartley of rugby, england, with comments by peter d.
Mondini dysplasia genetic and rare diseases information center. Both eva and mondini dysplasia normal cochlear spiral of 212 turns was replaced by abnormalities can be diagnosed by either computed a hypoplastic coil of 112 turns. 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. The development of auditory skills in young children with. We compared those numbers in our mondini dysplasia group versus our control group. The aim of this study is to survey and compare the development of auditory skills in young children with mondini dysplasia and profoundlydeaf.
May 12, 2020 mondini dysplasia associated to recurrent bacterial meningitisa clinical and imaging correlation. The mondini dysplasia describes a cochlea with incomplete partitioning and a reduced number of turns, an enlarged vestibular aqueduct and a dilated vestibule. Introduction approximately 20% of congenital hearing loss snhl is associated with inner ear malformations iem when referring to eva. Peripheral vestibular pathology in mondini dysplasia. Results the loss of type i and type ii hair cells in the cristae of the superior, lateral, and posterior semicircular canals, as well as in the saccular and utricular macula, was significantly higher in our mondini dysplasia group than in our control group. They were found to present specific medi cal and educational. Mondini dysplasia, also known as mondini malformation, is a developmental abnormality of the inner and middle ears that.
A case of mondini dysplasia associated with situs inversus. The scientific report written in latin by carlo mondini in 1791, titled the anatomic section of a boy born deaf, has been often cited but seldom read. The mondini dysplasia from early diagnosis to cochlear implant. Consequently, the hearing problem for patients with this condition has been some. Mondini dysplasia presenting as otorrhea without meningitis. Consequently, the hearing problem for patients with this condition has been somewhat improved with the use of cochlear implants. Mondini dysplasia genetic and rare diseases information. Mondini dysplasia presenting as otorrhea without meningitis core.
Recurrent bacterial meningitis in a child with mondini dysplasia. Designclinical, radiological, and genetic study of the members of a famil. Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after. Though rare, mondini dysplasia should be considered as a cause of recurrent meningitis in children, especially if they have sensorineural deafness. The mondini dysplasia can occur in cases of pendred syndrome and branchiootorenal syndrome and in other syndromes, but can occur in nonsyndromic deafness. The mondini malformation is a rare congenital inner. Utility of magnetic resonance cisternography with intrathecal gadolinium in detection of cerebrospinal fluid fistula associated with mondini dysplasia in a patient with recurrent meningitis. Sensorineural hearing loss and mondini dysplasia caused by a. Fortyfour ears in 44 patients with ip ii were operated on ci between from january 2001 to april 2009. In total, 144 patients with sensorineural hearing loss were included and subjected to highresolution temporal bone ct.
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