New findings in facial-onset sensory and motor neuronopathy (FOSMN) syndrome.

Facial-onset sensory and motor neuronopathy (FOSMN) syndrome represents a rare, slowly progressive, lower motor neuron disease with sensory compromise, involving mainly the face, bulbar region and upper limbs. However, non-motor symptoms and neurogenetic studies have rarely been evaluated in large case series. In the present study, 10 unrelated Brazilian patients with FOSMN syndrome underwent extensive clinical, laboratory, neurophysiological and neurogenetic assessment. Median age at symptom onset was 52.1 years, and men and women were equally affected. Patients presented with hemifacial or bilateral facial paresthesia and weakness, which evolved with dysphagia, dysphonia, and facial and tongue atrophy and, finally, a dropped-head, upper limb weakness and syringomyelia-like sensory disturbances in the upper limbs. All 10 patients showed chronic diffuse neurogenic compromise of bulbar, cervical and thoracic myotomes, and abnormal blink reflex tests. A positive family history of neurodegeneration was identified in six cases, and revealed pathogenic gene variants in three families (involving VCP, TARDBP and CHCHD10). Thus, our case series has revealed new findings regarding FOSMN syndrome: (i) its clinical course is not always benign, with poorer prognoses associated with dropped-head syndrome and early bulbar compromise; (ii) FOSMN syndrome may be part of a complex familial neurodegenerative spectrum; and (iii) a definite genetic basis may be observed in some cases.

Intracanalicular vestibular schwannomas presenting with facial nerve paralysis.

BACKGROUND: To describe the surgical management and postoperative course of two patients presenting with facial nerve (FN) paralysis as one of the presenting symptoms of small intracanalicular vestibular schwannomas (VS). METHODS: Among 153 patients operated for VS since September 2010 to August 2017, two adult female patients presented with rapidly progressive hearing decrease, vestibular symptoms, and FN paralysis (House-Brackmann grades III and IV, respectively). In both cases, c.e. T1-weighted magnetic resonance imaging revealed an enhancing tumor within the internal auditory canal without lateral extension beyond the fundus. RESULTS: Retrosigmoid approach and excision of tumor showed that the origin of tumor was from the superior vestibular nerve, extrinsic to FN. Gross total tumor resection was obtained, with FN preservation. In the first case, a millimetric fragment of capsule was left because of tight adhesion on FN itself. Histopathology confirmed schwannoma. After surgery, both patients improved FN motor function. CONCLUSIONS: Although very rarely, VS may start clinically with FN palsy, mimicking FN schwannomas and other less common pathologies. This presentation is exceptional in patients with small intracanalicular VS. Early surgical resection is the only reliable treatment for decompression of nerve, avoiding a complete and not-reversible damage, with possible postoperative FN function improvement or complete recovery.

Facial nerve schwannomas: A case series with an analysis of imaging findings.

Facial nerve schwannomas (FNSs) are rare benign tumors arising from the Schwann cells of the sheath of the facial nerve. These tumors may arise anywhere along the course of the facial nerve. Owing to their rarity and nonspecific clinical and radiological presentations, the preoperative diagnosis of FNSs is exceedingly difficult. In this study, we present four cases of histopathologically proven extratemporal schwannomas and a solitary case of intratemporal schwannoma. The purpose of this study was mainly focused on analyzing the imaging findings of extratemporal and intratemporal schwannomas in an effort to better characterize these lesions preoperatively. An early diagnosis of FNSs is helpful for the management and rehabilitation of these cases.

ENT infection caused by Raoultella ornithinolytica.

Raoultella ornithinolytica is an encapsulated gram-negative aerobic bacillus belonging to the Enterobacteriaceae family. It is one of the three species of Raoultella. Human infections related to R. ornithinolytica are exceedingly rare. This case report describes an ENT infection caused by R. ornithinolytica successfully treated with antibiotic therapy.

Basilar skull fractures: the petrous bone.

Basilar skullfractures: the petrous bone. OBJECTIVES: to provide suggestions for the management of three of the most dangerous or important lesions (internal carotid artery lesions, cerebrospinal fluid leaks and facial nerve paralysis) associated with the petrous part of basilar skull fractures, thereby trying to assess categories of evidence and determine strengths of recommendation. METHODOLOGY: A PubMed-based literature review was carried out, as well as a consultation of online sources as encountered in the literature review. Also, a non-systematic search of chapters of well-known books dealing with the subject of temporal bone traumata was conducted. RESULTS: Specific levels of evidence and/or strength of recommendation can be retrieved from the literature, but only with respect to the prophylactic use of antibiotics, the prescription of antithrombotic medications and the indications for angiography. CONCLUSION: The ample amount of available literature allows for sound management decisions, with reference made to algorithms when available in the literature. Nevertheless, for most of the management/search questions, categories of evidence and strength of recommendation are low or lacking.

Coexistence of scutum defect and facial canal dehiscence.

In this study, we have discussed the facial canal dehiscence rates in patients with scutum defect, who had undergone surgery with the diagnosis of chronic otitis media with or without cholesteatoma. The operation records of 154 patients who had undergone tympanomastoidectomy with the diagnosis of chronic otitis media with or without cholesteatoma were retrospectively analyzed. Scutum defect was investigated by inspection under direct high magnification following tympanomeatal flap elevation during the operation. Facial canal dehiscence was evaluated by inspection and through palpation by blunt picking after the pathological tissues had been removed. The rate of scutum defect was determined as 29.22% (45 out of 154 patients), and the rate of facial canal dehiscence was determined as 22.07% (34 out of 154 patients). While facial canal dehiscence was encountered in 55.55% of the patients with scutum defect, this rate was determined as 8.25% in patients without scutum defect. While the tympanic segment was the most commonly affected segment of the facial canal, isolated mastoid segment involvement was encountered in only 1 (2.94%) patient. The presence of scutum defect is a significant finding for the prediction of the extent of the disease and facial canal dehiscence. Thus, the surgeon should pay more attention to avoid facial nerve injury during the operation in the patient in whom a scutum defect is detected.

Multiple schwannomas of the facial nerve mimicking cervical lymphoma: a case report.

BACKGROUND: In this report, we describe the first case in literature of a patient with multiple schwannomas of the marginal mandibular branch of the facial nerve. CASE PRESENTATION: A Caucasian patient presented with a sudden onset of left lower facial nerve palsy House-Brackmann score III for 1 month. Computed tomography imaging was performed to exclude a cerebral event and revealed multiple tumors within the left parotid gland. Duplex ultrasound and magnetic resonance imaging scans delineated multiple, hypoechoic tumors, round in shape and well defined without a hilar structure along the left mandible. For histological verification, a left-side partial parotidectomy and extirpation of an intraparotideal node was performed with use of a nerve-integrity monitor. Histomorphological analysis of the resected tissue revealed a benign schwannoma. Facial nerve function remained unchanged since the operation. The size of the nonresected tumors is currently monitored regularly by ultrasonography. Fibromatosis has been excluded. CONCLUSIONS: If multiple tumors occur in the parotid gland and the angle of the jaw, schwannomas need to be considered as a differential diagnosis. To plan the right diagnostic surgical intervention and prevent nerve damage, a thorough ultrasound examination is essential in preoperative diagnostic work-up for any suspicious lesion of the parotid gland and jaw region.

Image Fusion in Neurovascular Compression Syndrome Related to Hemifacial Spasm.

Neurovascular compression syndromes have well characterized clinical symptoms, but precise identification of the pathologic contact between the nerves and vessels can be challenging at neuroimaging. Considering that neurovascular contacts are frequent imaging findings in asymptomatic patients, correct visualization of pathological contact is crucial for the diagnosis and surgical planning. We have used magnetic resonance imaging fusion by overlaying color-coded T1-weighted postcontrast onto high-resolution T2-weighted images to better delineate imaging findings by enhancing vascular structures.

[Computed tomography of the temporal bone for the diagnosis of facial nerve neurinoma].

The present retrospective study of 6,200 subjects with temporal bone pathology allowed for the identification of a group of 12 patients aged between 12 and 59 years in whom the presence of facial nerve neurinoma diagnosed by computed tomography was confirmed during surgical intervention and by histological methods. The patients were allocated to three groups depending on the localization of neurinoma. Patients of group 1 (n=8) had neurinoma of the mastoidal segment, those of group 2 presented with neurinoma of the tympanic segment, and patients of group 3 showed combined lesions of the tympanic and labyrinthine segments. Clinical and CT characteristics of each group are presented. CT of the temporal bone is shown to provide a tool of high informative value for the diagnosis of facial nerve neurinoma. It is suggested that CT should be used to examine patients with facial nerve paresis or conductive and mixed hearing loss of unspecified etiology for the early diagnosis of facial nerve neurinoma.

Imaging the facial nerve: A contemporary review of anatomy and pathology.

PURPOSE: The facial nerve is the seventh paired cranial nerve which anatomically can be divided into six distinct segments. There are a wide range of pathologies that may occur along each segment of the nerve. The aim of this pictorial review is to untangle the complex appearances of the facial nerve, both in its normal anatomical course and when affected by pathology. METHOD: This review takes an evidence-based segmental approach to the evaluation of the facial nerve in terms of its anatomy and clinical features of common pathologies affecting specific segments of the nerve. The typical multimodal radiological findings of common facial nerve pathologies are included in the review using imaging from select pathologically confirmed cases. RESULTS: A wide range of pathologies ranging from congenital abnormalities to inflammatory, infective and neoplastic processes can affect the facial nerve. As select segments of the nerve are better evaluated on certain imaging modalities a clear understanding of the anatomy and clinical features associated with specific facial nerve pathologies enables the radiologist to tailor the imaging test to best answer the clinical question. CONCLUSIONS: This review provides a segmental clinical-radiological approach to imaging the facial nerve. In addition, recent developments in facial nerve imaging that may come into mainstream use in the near future are touched upon.

Eight-and-a-half syndrome: video evidence and updated literature review.

The eight-and-a-half syndrome (EHS)-defined by the combination of a seventh cranial nerve palsy and an ipsilateral one-and-a-half syndrome-is a rare brainstem syndrome, which localises to the caudal tegmental region of the pons. We present a case of the EHS secondary to an inflammatory lesion on a previously healthy 26-year-old woman, with a literature review emphasising the relevance of aetiological assessment.

Epineurial Pseudocyst of the Intratemporal Facial Nerve: A Case Series Study.

OBJECTIVES: The goal of this case series was to describe the clinical and radiological characteristics of epineurial pseudocysts of the intratemporal facial nerve (EPIFs) and to discuss the relevance in clinical practice. MATERIALS AND METHODS: A retrospective case series of 10 consecutive patients with EPIFs identified through computed tomography (CT), between 2009 and 2018. Morphological characteristics, coexisting pathology, facial nerve function, and evolution over time were analyzed. RESULTS: A unilateral EPIF was found in 5 patients (50%) and a bilateral EPIF was found in the other 5 (50%). The largest dimensions were observed in the coronal plane, with an average craniocaudal length of 6.0 mm (range, 3-9 mm). None of the patients presented with facial nerve dysfunction. Growth could not be observed in any of the patients. In 5 cases (33.3%), CT imaging showed a reduced transmastoid access to the facial recess caused by the EPIF. CONCLUSION: All EPIFs in this study were incidental findings. Facial nerve function was normal in all patients. Knowledge of EPIFs is important to perform safe cholesteatoma and cochlear implant surgery and to prevent unnecessary follow-up imaging.

Hemifacial Spasm Due to Bony Stenosis of the Internal Auditory Meatus: Look Beyond the Loop.

BACKGROUND: Hemifacial spasm (HFS) is a neuromuscular disorder resulting from cranial nerve VII compression at the root entry zone, characterized by brief, involuntary, progressive spasms of muscles on one side of face. The cisternal part of cranial nerve VII myelinated by Schwann cells is considered relatively resistant to compression. Rarely, direct compression over this segment without coexistent root entry zone compression may also result in HFS. An aberrant vessel posterior inferior cerebellar artery/anterior inferior cerebellar artery loop remains the leading cause of compression at this location. Cerebellopontine angle tumors or cysts may affect cranial nerve VII distally. However, bony meatal stenosis with pure distal facial nerve compression leading to HFS in the absence of other clinical symptoms has not been reported. CASE DESCRIPTION: A 53-year-old woman presented with worsening left HFS for 9 years despite multiple trials of medical therapy, which severely impeded her social life and occupation. Temporal bone computed tomography revealed severe stenosis of the left internal auditory meatus (2.36 mm) compared with the right side (4.67 mm). Under three-dimensional exoscope guidance, a left retrosigmoid suboccipital craniotomy was performed, the posterior bony wall of the internal auditory canal was drilled to decompress the canal, and durotomy was performed to release the contents. Her symptoms resolved without developing facial weakness or hearing deficits. CONCLUSIONS: An aberrant anterior inferior cerebellar artery vascular loop is usually the most frequent lesion causing compression of the distal cisternal part of the facial nerve. However, other purely distal or coexistent lesions must be actively sought for both in preoperative radiologic images and during surgery.

Prevalence of Spontaneous Asymptomatic Facial Nerve Canal Meningoceles: A Retrospective Review.

BACKGROUND AND PURPOSE: The prevalence of patent facial nerve canals and meningoceles along the facial nerve course is unknown. This study aimed to assess the frequency of such findings in asymptomatic patients. MATERIALS AND METHODS: A retrospective review was completed of patients with high-resolution MR imaging of the temporal bone whose clinical presentations were unrelated to facial nerve pathology. Facial nerve canals were assessed for the presence of fluid along each segment and meningoceles within either the labyrinthine segment (fluid-filled distention, ≥1.0-mm diameter) or geniculate ganglion fossa (fluid-filled distention, ≥2.0-mm diameter). If a meningocele was noted, images were assessed for signs of CSF leak. RESULTS: Of 204 patients, 36 (17.6%) had fluid in the labyrinthine segment of the facial nerve canal and 40 (19.6%) had fluid in the geniculate ganglion fossa. Five (2.5%) had meningoceles of the geniculate ganglion fossa; no meningoceles of the labyrinthine segment of the canal were observed. No significant difference was observed in the ages of patients with fluid in the labyrinthine segment of the canal or geniculate ganglion compared with those without fluid (P = .177 and P = .896, respectively). Of the patients with a meningocele, one had a partially empty sella and none had imaging evidence of CSF leak or intracranial hypotension. CONCLUSIONS: Fluid within the labyrinthine and geniculate segments of the facial nerve canal is relatively common. Geniculate ganglion meningoceles are also observed, though less frequently. Such findings should be considered of little clinical importance without radiologic evidence of CSF otorrhea, meningitis, or facial nerve palsy.

Decreased Distance between Representation Sites of Distinct Facial Movements in Facial Synkinesis-A Task fMRI Study.

This study aimed to investigate the cortical functional alterations in patients with unilateral facial synkinesis using the task-designed functional magnetic resonance imaging. Fourteen unilateral synkinesis followed by peripheral facial nerve palsy patients and eighteen healthy adults were recruited in this study. Four facial motor tasks, i.e. left/right blinking and left/right smiling, were performed by each subject during the scans. Based on the activation maps, the spatial distance between the representation sites in the contralateral pre-/post-central gyrus of left or right blinking and smiling tasks (i.e. left/right B-S-distance) were calculated. Patients with unilateral facial synkinesis showed decreased B-S-distances during blinking and smiling tasks on the affected half face (9.68 ±â€¯3.92 mm) compared to both average distances in healthy controls (14.95 ±â€¯5.55 mm; p = 0.002) and unaffected half face tasks in patients (16.19 ±â€¯7.87 mm; p = 0.011). These findings demonstrated cortical reorganization in facial synkinesis and suggested a conceivable mechanism corresponding to the simultaneous facial movement. This potentially provides a new modulation target for preventive, therapeutic and rehabilitative maneuver of this disease.