11/122. Larsen's syndrome with dental anomalies: report of a case.Dental anomalies and mixed-type hearing loss are extremely rare symptoms of Larsen's syndrome that is characterized by multiple joint dislocation and flat face. A 15-year-old Turkish girl affected with Larsen's syndrome exhibiting many characteristic facial and skeletal features plus hitherto unreported oral and oral-facial anomalies including, maxillary prognathi, malocclusion, supernumerary teeth, macroglossia and microdontia is reported.- - - - - - - - - - ranking = 1keywords = facial (Clic here for more details about this article) |
12/122. Temporary and permanent signs of interhemispheric disconnection after traumatic brain injury.The corpus callosum is frequently damaged by closed head traumas, and the resulting deficits of interhemispheric communication may vary according to the specific position of the lesion within the corpus callosum. This paper describes a single case who suffered a severe traumatic brain injury resulting in a lesion of the posterior body of the corpus callosum. Among the classical symptoms of interhemispheric disconnection, left hand anomia, left upper limb ideomotor dyspraxia, left visual field dyslexia and dysnomia, and left ear suppression in a dichotic listening task were observed shortly after the injury but recovered completely or almost completely with the passage of time. The only symptom of interhemispheric disconnection which was found to persist more than 4 years after the injury was an abnormal prolongation of the crossed-uncrossed difference in a simple visuomotor reaction time task. This prolongation was comparable with that observed in subjects with complete callosal lesions or agenesis. The results suggest that the posterior body of the corpus callosum may be an obligatory interhemispheric communication channel for mediating fast visuo-motor responses. The transient nature of other symptoms of interhemispheric disconnection suggests a relatively wide dispersion of fibers with different functions through the callosal body, such that parts of them can survive a restricted lesion and allow functional recovery of hemispheric interactions. An assessment of the evolution in time of symptoms of interhemispheric disconnection following restricted callosal lesions may reveal fine and coarse features of the anatomo-functional topography of the corpus callosum.- - - - - - - - - - ranking = 0.017738381959767keywords = injury, trauma (Clic here for more details about this article) |
13/122. Vestibular schwannoma with contralateral facial pain - case report.BACKGROUND: Vestibular schwannoma (acoustic neuroma) most commonly presents with ipsilateral disturbances of acoustic, vestibular, trigeminal and facial nerves. Presentation of vestibular schwannoma with contralateral facial pain is quite uncommon. CASE PRESENTATION: Among 156 cases of operated vestibular schwannoma, we found one case with unusual presentation of contralateral hemifacial pain. CONCLUSION: The presentation of contralateral facial pain in the vestibular schwannoma is rare. It seems that displacement and distortion of the brainstem and compression of the contralateral trigeminal nerve in Meckel's cave by the large mass lesion may lead to this atypical presentation. The best practice in these patients is removal of the tumour, although persistent contralateral pain after operation has been reported.- - - - - - - - - - ranking = 9.6098422702135keywords = facial nerve, facial, nerve (Clic here for more details about this article) |
14/122. Oral-facial-digital syndrome gabrielli type: second report.We describe a second sporadic case, a girl, with the features of Oral-Facial-Digital, type Gabrielli. We comment on several aspects of this condition and confirm this entity as a unique syndrome, different from the other OFDS. To date, the diagnosis is based only on clinical and radiographic findings.- - - - - - - - - - ranking = 2keywords = facial (Clic here for more details about this article) |
15/122. A small vestibular schwannoma arising from the inferior vestibular nerve.The investigation of a complaint of unilateral right sensorineural hearing loss led to the identification of a right 3 mm vestibular schwannoma arising from the inferior division of the right vestibular nerve. On investigation the patient was found to have normal caloric function, this being mediated by the superior vestibular nerve. Both transient and distortion product otoacoustic emissions were absent in the right ear, and ABR was abnormal on this side. These findings are of interest as they indicate that this small lesion produced a hearing loss that was both cochlear and retrocochlear. The anatomical finding that the medial auditory efferents run within the inferior vestibular nerve is considered. This patient did not experience tinnitus or hyperacusis despite the site of the lesion arising from the inferior vestibular nerve.- - - - - - - - - - ranking = 0.82881572910482keywords = nerve (Clic here for more details about this article) |
16/122. De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia.The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a heterogenous group of clinical conditions and has been classified morphologically, although its aetiology remains unclear. We present an 18-year-old female with KFA, associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism. No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case. CONCLUSION: The current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia.- - - - - - - - - - ranking = 0.5keywords = facial (Clic here for more details about this article) |
17/122. Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. A wide range of dysmorphic features and congenital abnormalities have been described in cases reported as Ohdo and Ohdo-like syndromes. We report a further two cases of Ohdo syndrome, one with mild features and the other more severely affected, illustrating the phenotypic variability of the condition. A review of the literature highlights the severe phenotype associated with distinctive facial features, as seen in Case 2 in this report All cases with the severe phenotype have been sporadic. Subtelomeric FISH studies of all chromosome arms on the two cases showed no abnormality. We propose clinical criteria for the diagnosis of Ohdo syndrome and delineate features of the severe phenotype.- - - - - - - - - - ranking = 0.5keywords = facial (Clic here for more details about this article) |
18/122. Subtonsillar placement of auditory brainstem implant.A 26-year-old female with NF2 underwent removal of an acoustic schwannoma via extended retrosigmoid approach with subtonsillar placement of the auditory brainstem implant. The patient had already shown palsy of the lower cranial nerves on the opposite side due to previous surgery. Differing from conventional routes such as the translabyrinthine and the retrosigmoid, the subtonsillar approach enabled us to observe the entire cochlear nucleus and avoid injury to the 9th and 10th cranial nerves when applying the electrode. Hearing in pure tone average was maintained almost at the preoperative level. We present a new use of this approach in placing the electrode and discuss its advantages.- - - - - - - - - - ranking = 0.20914445765294keywords = nerve, injury (Clic here for more details about this article) |
19/122. radiation-induced schwannomas of the nervous system. Report of five cases and review of the literature.radiation therapy has important delayed effects on the central nervous system. Prominent among these effects is radiation necrosis of nervous tissue, but an oncogenic effect is also recognized. Both benign and malignant intracranial tumors can develop in irradiated fields, particularly in children. Most of these tumors are sarcomas, meningiomas or gliomas and only occasionally schwannomas. We report 5 cases of postirradiation acoustic nerve schwannoma observed in our Department.- - - - - - - - - - ranking = 0.1036019661381keywords = nerve (Clic here for more details about this article) |
20/122. Auditory disturbance as a prodrome of anterior inferior cerebellar artery infarction.OBJECTIVES: To investigate the clinical and radiological features of patients presenting with an acute auditory syndrome as a prodromal symptom of anterior inferior cerebellar artery (AICA) infarction. methods: 16 consecutive cases of AICA infarction diagnosed by brain magnetic resonance imaging completed a standardised audiovestibular questionnaire and underwent a neuro-otological evaluation by an experienced neuro-otologist. RESULTS: Five patients (31%) had an acute auditory syndrome as a prodrome of AICA infarction one to 10 days before onset of other brain stem or cerebellar symptoms. Two types of acute auditory syndrome were found: recurrent transient hearing loss with or without tinnitus (n = 3), and a single episode of prolonged hearing loss with or without tinnitus (n = 2). The episodic symptoms were brief, lasting only minutes. The tinnitus preceding the infarction was identical to the tinnitus experienced at the time of infarction. At the time of infarction, all patients developed hearing loss, tinnitus, vertigo, and ipsilateral hemiataxia. The most commonly affected site was the middle cerebellar peduncle (n = 5). Four of the five patients had incomplete hearing loss and all had absence of vestibular function to caloric stimulation on the affected side. CONCLUSIONS: Acute auditory syndrome may be a warning sign of impending pontocerebellar infarction in the distribution of the AICA. The acute auditory syndrome preceding an AICA infarct may result from ischaemia of the inner ear or the vestibulocochlear nerve.- - - - - - - - - - ranking = 0.1036019661381keywords = nerve (Clic here for more details about this article) |
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