Granulomatosis with polyangiitis and multiple bilateral cranial nerve palsies: a diagnostic challenge.

BACKGROUND: Granulomatosis with polyangiitis is characterized by vasculitis of small and medium sized vessels and non-caseating granulomas with head and neck symptoms in 95% of those affected. Cranial nerve palsies are rare; while, chronic rhinosinusitis and ear problems are common. CASE REPORT: We describe the serious course and the diagnostic challenge of a patient with granulomatosis with polyangiitis of bilateral mastoids and the right temporal lobe. Initially, the patient showed metachronous bilateral facial palsy with chronic mastoiditis. Repeated surgeries and rheumatologic examinations did not determine a diagnosis. The patient developed additional cranial nerve palsies. Due to progression into the temporal lobe, we removed the affected parts. After 6 months, the diagnosis was revealed by histology. RESULTS AND CONCLUSION: Granulomatosis with polyangiitis is a diagnostic challenge. Persistent reevaluations were necessary for a final diagnosis and to limit the life-threatening disease. Once diagnosed, therapy began with the standard FAUCI-Scheme.

[Use of a mechatronic robotic camera holding system in head and neck surgery]. / Anwendung eines aktiven Haltearms in der endoskopischen Kopf-Hals-Chirurgie.

BACKGROUND: It has been shown that a third hand is useful for holding the endoscope during endoscopic surgery so that both hands of the surgeon are free for instrumentation. MATERIAL AND METHODS: Experimental tests were performed with the mechatronic robotic camera holding system Soloassist on anatomical specimens in the area of the nose, nasopharynx and larynx. RESULTS: An ergonomic set-up and the practical application are easily possible. The third hand enables a still and clear picture without undesired camera movement and all instruments can be controlled by the surgeon. There would appear to be some room for improvement as the working area is limited due to an additional instrument. The camera holding system shows a very high velocity for head and neck surgery. CONCLUSION: Until the active holder can be used regularly in clinical practice in the field of head and neck surgery, more technical modifications have to be implemented.

[Primary B-cell non-Hodgkin lymphoma of the internal auditory canal: case report and literature review]. / Primäres B-Zell-Non-Hodgkin-Lymphom des inneren Gehörgangs: Fallbericht und Literaturübersicht.

A primary non-Hodgkin lymphoma (NHL) of the internal auditory canal or the cerebellopontine angle is an absolute rarity, even among the unusual lesions encountered there. Schwannomas or meningiomas account for approximately 90-95% of the tumors of the cerebellopontine angle and the internal auditory canal. Atypical symptoms, such as facial nerve palsy or rapid progression, require differential diagnostics to identify less frequent entities. However, clinical symptoms or the image morphology cannot confirm the diagnosis of a lymphoma. If a malignant process is suspected during surgical exploration, an immediate intraoperative biopsy can give important clues for appropriate treatment. The course, diagnostics, and therapy of a rare case of primary B-cell NHL of the internal auditory canal are reported here.

[Craniofacial fibrous dysplasia: scan policy or surgery?]. / Kraniofaziale Fibröse Dysplasie: Observieren oder Operieren?

BACKGROUND: The aetiologic correlations of fibrous dysplasia (FD) are more and more decoded by molecular biology, improved imaging procedures, and the use of computer assisted surgery--thus a review of present diagnostics and therapy methods is evaluated. METHOD: The valid methods of diagnostic and therapy procedures of craniofacial FD were retrospectively analysed in a collective of 9 patients in consideration of literature. The criteria of the decision for diagnosis and surgical procedures were evaluated. RESULTS: According to the literature, diagnosis was ascertained with modern CT and MRI scans. Bone scintigraphy was only used additionally in particular questions. In case of unclear radiological findings histomorphological procedures were used complementarily to distinguish FD from other bone tumors. The aim of surgical intervention was to reduce pain, to restore the function in compression symptoms, to recover original ostia, or to restore the natural geometry of the face. CONCLUSIONS: Current imaging procedures allow differential diagnosis from other benign bone tumors but also from malignancies. The therapy of FD is conservative (wait and scan) or operative in dependence on the localisation, the extension and the clinical manifestations of the disease. In the future molecular biological methods could function as supporting instrument for diagnosis if histomorphological results are not meaningful.

[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome]. / Identifizierung von zwei heterozygoten Mutationen im SLC26A4/PDS-Gen einer Familie mit Pendred-Syndrom.

BACKGROUND: Pendred-syndrome is an autosomal recessive disease that is classically characterised by sensorineural hearing loss and enlargement of the thyroid gland. The gene SLC26A4/PDS for the pendred-syndrome has been localised by linkage analysis on chromosome 7q31. This protein is expressed in the inner ear, thyroid gland, kidney and placenta. Functional analysis in Xenopus laevis oocytes revealed that it acts as an iodide/chloride and chloride/formate exchanger. METHOD: Each of the exons and flanking splice regions of the SLC26A4/PDS gene was analysed by direct sequencing. RESULTS: In the involved family two heterozygous mutations could be detected which results by combination in hearing loss and deafness. CONCLUSION: By evidences of familial background in hearing loss and thyroid disorder it is reasonable to analyse the PDS gene for mutation to have early the possibility for medical care of linguistic development through hearing aid or CI-implantation.