1,720,973 research outputs found
White matter alterations in 11q Deletion Syndrome: MRI aspecific findings?
No full textTo describe MRI findings in a child with 11q deletion syndrome (Jacobsen syndrome) and to discuss the differential diagnosis with other genetic white matter alterations
Genetic syndromes involving hearing
No full textObjective: The fundamental processes involved in the mechanism of hearing seem to be controlled by hundreds of genes and hereditary hearing impairment may be caused by a large variety of genetic mutations in different genes. Approximately 150 loci for monogenic disorders (for which hearing loss is the only manifestation and therefore is nonsyndromic) and for syndromic disorders, have been mapped to the human
genome. The identification of these genes and unctional analysis of the proteins they encode, are paving the way towards a better understanding of the physiology and pathophysiology of the auditory system. To date,approximately50 causative genes have been identified.
Methods: The clinicaland neuroradioldical findings of syndromal hearing impairment areanalysed.
Results: This paper presents an updated report on genetic syndromes in which a hearing impairment is involved, with a particular attention to the ones associated with external ear and craniofacial malformations.
Conclusions: Concepts in human genetics are rapidly evolving together with technologies. The concept itself of gene is changing. A genetic diagnosis of syndromal hearing impairment has many practical consequences: it can implies specific prognosis,specific management, specific recurrence risk in relatives and,if the diagnosis
is confirmed at the molecular level,possibility of a specific early prenatal diagnosis for severe syndromes.It is important to highlight the necessity that the pediatric otolaryngologist must have a close collaboration with a clinical geneticist and a neuroradiologist
Imaging of labyrinthine fibrosis and ossification
No full textBacterial meningitis is the most common cause of bilateral labyrinthine ossification. Frequently ossification predominates within the scala tympani of the basal turn. Fibrosis may precede ossification and zones of fibrosis and ossification may coexist.
Normally in implant surgery the electrode-array is inserted within the scala tympani through the round window or a cochleostomy. Bilateral cochlear fibrosis and ossification do not represent contraindication to implantation in deaf children, but they are factors that can modify surgical approach.
Both CT and MR are mandatory in preoperative diagnostic protocol of cochlear implant candidate children. CT shows very well labyrinthine ossification; both axial and coronal images should be acquired in order to avoid misdiagnosis of subtle basal turn calcifications. In labyrinthine fibrosis without ossification CT findings are usually normal, but T2- weighted images demonstrate lack of fluid of the inner ear. Enhancement
of fibrosis on post-contrast T1-weighted images means that fibrosis is still proliferative and suggests performing quickly a cochlear implantation
Ear and brain neuroradiological findings in cochlear implant candidate children
No full textWe reviewed ear and brain neuroradiological findings of 80 cochlear-implanted candidated children. Majiority of our patients showed normal findings or unimportant abnormalities. Neuroradiological imaging plays an essential role for the pre-operative planning of cochlear implant, in particular to assess contraindications or conditions which could make difficult the surgical approach
Clinical and radiological evaluation in children with microtia
No full textThe management of a child with congenital ear malformation, in particular if the external ear is severely involved, is difficult because of the complexity of the therapeutic problem, and that of parental anxiety. It is very important to plan a complete therapeutic/habilitative programme as soon as possible, even if surgical procedures are delayed. Diagnostic imaging plays an important role in the global assessment of a child with microtia, in order to diagnose possible associated external auditory canal, middle and inner ear malformations. For these reasons our diagnostic protocol for children with microtia includes otological and audiological evaluation, clinical genetics and radiological imaging, from the neonatal period. Here, data are reported on 27 children with microtia who completed the diagnostic protocol. In eight of 27 cases microtia was bilateral: in unilateral cases the right side was affected more frequently. Other congenital malformations were diagnosed in 41% of cases. A high correlation between the degree of microtia and the frequency of external and middle ear dysplasias was found, in accordance with larger studies of the literature. Inner ear malformations were found less frequently, but without apparent correlation with the degree of microtia. The fact that children with microtia may also have severe inner ear malformations is emphasized
Goldenhar syndrome in association with agenesia of the internal carotid artery.
No full textThe association between Goldenhar syndrome and homolateral internal carotid artery agenesis to our knowledge, has never emerged before. We present a case report in a female child that was examined with tonal audiometry, A.B.R., CT scan, MR, digital-subtraction-angiography and color Doppler. The aim of this report is to present an uncommon pathologic association which also provides a brief review of the embryology of the ear and carotid vessels whilst discussing probable pathogenetic causes
Reperti neuroradiologici in bambini candidati ad impianto cocleare
No full textI protocolli preoperatori inerenti la diagnostica per immagini non sono completamente condivisi. Le indagini neuroradiologiche risultano utili nell'individuare eventuali controindicazioni( assenza della coclea o del nervo) o condizioni che possono aumentare il rischio operatorio ( malformazioni, fibrosi/ossificazione cocleare). La TC e la RM sono complementari per una completa analisi dell'orecchio medio e interno
Ear and brain neuroradiological findings and outcomes in cochlear-implant candidate children
No full textCT and MRI are complementary for exhaustive evaluation of cochlear implant candidates. In pre-operative protocol we suggest to study not only the ear and petrous mastoid structures, but oalso the brain. In fact whole MRI can demonstrate anomalies in children without neurological signs or symptoms, and can explain the wide variation of performance across individual cochlear implant user
Profil clinique, audiologique et neuro-radiologique dans le syndome de l'aqueduc du vestibule dilaté: analyse rétrospective d'une série limite de 14 patients
No full textLa dilatation de l'aqueduc du vestibule est une malformation congenitale souvent responsable d'hypoacusie neurosensorielle, unilaterale ou bilaterale, a evolution progressive, souvent fluctuante ou a manifestation soudaine, secondaire a un traumatisme cranien mineur ou a des activités qui comportent une variation de la pression du liquide cérébrospinale. But de l'étude est l'analyse des aspects cliniques, audiologiques et neuroradiologiques de cette anomalie
Dilatazione dell'acquedotto vestibolare, del dotto e del sacco endolinfatico, aspetti neuroradiologici
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