Cochlea implantation in patients with superficial hemosiderosis.

INTRODUCTION: Superficial hemosiderosis is a sub-form of hemosiderosis in which the deposits of hemosiderin in the central nervous system damage the nerve cells. This form of siderosis is caused by chronic cerebral hemorrhages, especially subarachnoid hemorrhages. The diversity of symptoms depends on the respective damage to the brain, but in most of the cases it shows up as incipient unilateral or bilateral hearing loss, ataxia and signs of pyramidal tracts. We are investigating the question of whether cochlear implantation is a treatment option for patients with superficial hemosiderosis and which strategy of diagnostic procedure has to be ruled out preoperatively. MATERIALS AND METHODS: In a tertiary hospital between 2009 and 2018, we examined (N = 5) patients with radiologically confirmed central hemosiderosis who suffered from profound hearing loss to deafness were treated with a cochlear implant (CI). We compared pre- and postoperative speech comprehension (Freiburg speech intelligibility test for monosyllables and HSM sentence test). RESULTS: Speech understanding improved on average by 20% (monosyllabic test in the Freiburg speech intelligibility test) and by 40% in noise (HSM sentence test) compared to preoperative speech understanding with optimized hearing aids. DISCUSSION: The results show that patients with superficial siderosis benefit from CI with better speech understanding. The results are below the average for all postlingual deaf CI patients. Superficial siderosis causes neural damages, which explains the reduced speech understanding based on central hearing loss. It is important to correctly weigh the patient's expectations preoperatively and to include neurologists within the therapy procedure.

Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.

Hurler-Scheie syndrome is caused by alpha-l-iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice for the more severe Hurler syndrome is haematopoietic stem cell transplantation (HCT). In the more attenuated Scheie syndrome, neurological impairment is less severe; therefore, ERT may be appropriate to treat these patients. Information on long-term outcome in Scheie patients undergoing ERT is scarce. We report a 38-year-old female Scheie patient who has been on ERT for 8 years. While non-neurological symptoms improved, she developed paresthesias in her hands and feet and progressive pain in her legs. Somatosensory evoked potentials were abnormal, suggesting dysfunction of the dorsal funiculus and lemniscus medialis. After 6 years of ERT, a spinal MRI showed dural thickening at the upper cervical spine. These soft-tissue deposits are presumably due to the accumulation of mucopolysaccharides. Intramedullary hyperintensities at the level of C1/2 revealed cervical myelopathy. An MRI before the start of ERT had shown milder spinal lesions. Cystic lesions in the white matter of the centrum semiovale due to dilated Virchow-Robin spaces were essentially unchanged compared with the MRI scan before ERT. Decompression of the spinal cord resulted in clinical improvement. In an adult patient with Scheie syndrome, ERT failed to prevent progression of cervical myelopathy. Clinical significance of cerebral changes is unclear. Whether early HCT or intrathecal ERT could have prevented these lesions remains speculative.

[Tuberculous Otitis media - a rare differential diagnosis in Germany]. / Tuberkulöse Otitis media -Eine seltene Differenzialdiagnose in Deutschland.

A 28-year-old female patient with a migrant background presented for surgery with a suspected cholesteatoma in the left ear. The patient reported having had an aural discharge for several months; otoscopic examination revealed a runny ear, and discrete granulation tissue was seen. Pure-tone audiometry showed conduction hearing loss of 30-40 dB across all frequencies in the left ear; high-resolution computed tomography of the temporal bone revealed that the mastoid and tympanic cavity were completely obscured. The intraoperative finding showed a caseous space-occupying mass that completely filled the tympanic cavity. The suspected diagnosis of tuberculosis was corroborated by pathohistological, microbiological and molecular biological tests. Tuberculostatic therapy was initiated at a different location. Although tuberculosis of the middle ear is a rare condition in Germany, it should nevertheless be considered when making a differential diagnosis, especially in high-risk patients where cholesteatoma is suspected on clinical and radiological evidence or in patients with a chronic middle ear process.

Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.

Alexander disease is a rare disorder of cerebral white matter due to a dysfunction of astrocytes. The most common infantile form presents as a megalencephalic leukodystrophy. Mutations of the GFAP gene, encoding Glial Fibrillary Acidic Protein, have been recognized as the cause of Alexander disease. Glial Fibrillary Acidic Protein is the major intermediate filament protein in astrocytes, its functional rod domain is conserved in sequence and structure among other intermediate filament proteins. We report here two cases of infantile Alexander disease with early onset and severe course, caused by DE NOVO mutations A364 V and Y366C. Both affected GFAP residues are part of a highly conserved coiled-coil trigger motif in the C-terminal end of segment 2B, probably required for the stability of intermediate filament molecules. Comparable effects are seen with mutations of the corresponding residues of the gene coding for keratin 14, another intermediate filament, this further supports the hypothesis that these positions of the trigger motif are generally critical for a normal function of intermediate filaments.

eLearning in education and advanced training in neuroradiology: introduction of a web-based teaching and learning application.

INTRODUCTION: New information technologies offer the possibility of major improvements in the professional education and advanced training of physicians. The web-based, multimedia teaching and learning application Schoolbook has been created and utilized for neuroradiology. METHODS: Schoolbook is technically based as a content management system and is realized in a LAMP environment. The content is generated with the help of the developed system and stored in a database. The layout is defined by a PHP application, and the webpages are generated from the system. RESULTS: Schoolbook is realized as an authoring tool so that it can be integrated into daily practice. This enables the teacher to autonomously process the content into the web-based application which is used for lectures, seminars and self-study. A multimedia case library is the central building block of Schoolbook for neuroradiology, whereby the learner is provided with original diagnostic and therapeutic data from numerous individual cases. The user can put individual emphasis on key learning points as there are various ways to work with the case histories. Besides the case-based way of teaching and learning, a systematically structured way of dealing with the content is available. CONCLUSION: eLearning offers various opportunities for teaching and learning in academic and scientific as well as in economic contexts. Web-based applications such as Schoolbook may be beneficial not only for basic university education but also for the realization of international educational programmes such as the European Master of Medical Science with a major in neuroradiology.

[Expansion of an ceruminous adenoma into the middle ear]. / Ausbreitung eines Zeruminaldrüsenadenoms in das Mittelohr.

A 37-year-old female presented for surgery with central perforation of the eardrum with granulation. Mastoidectomy had been performed 18 years ago following chronic mastoiditis. As the clinical picture now suggested a suspected cholesteatoma, radiological imaging was performed. The CT scan revealed specification of the mastoid and the tympanic cavity. In addition, MRI scan showed signal enhancement in the same areas. However, the suspected cholesteatoma could not be confirmed intraoperatively. Pathohistology revealed a ceruminal gland adenoma. They are a rare phenomenon and should be distinguished from middle ear adenomas, pleomorph ceruminal gland adenomas, ceruminal gland adenocarcinomas and cylindromas of the ceruminal glands. Owing to a high recurrence rate, complete surgical removal is necessary. Despite its rare occurrence, a ceruminal gland adenoma must be taken into consideration in the differential diagnosis of individual cholesteatoma cases.

[Embryonal rhabdomyosarcoma of the orbita]. / Embryonales Rhabdomyosarkom der Orbita.

A 2(1/2) year old girl was presented with an acute, painless orbital swelling without signs of local or systemic inflammation. CT and MRT scanning revealed a tumor which by open biopsy disclosed embryonal rhabdomyosarcoma. By means of this case we present the current diagnostic and therapeutic approaches for childhood soft tissue sarcomas. At present our patient receives a poly-chemotherapy which has already shown a good response. For local tumor control, a complete surgical resection as well as radiotherapy may be indicated and have to be considered carefully with respect to the possible late effects. This case demonstrates that in a child with a unilateral, progressive orbital tumor, the differential diagnosis of a soft tissue sarcoma has to be ruled out.

Palate morphology after unilateral and bilateral cleft lip and palate closure.

The aim of the present study was to compare the morphology of the hard palate of patients with uni- and bilateral cleft lip and palate after palatoplasty using vomer and palatal pedicled flaps with the palatal morphology of non-cleft individuals. Eighty patients were enrolled into this retrospective study: 40 patients with cleft lip and palate (30 unilateral, 10 bilateral) and 40 non-cleft patients with class I occlusion, who served as controls. Analysis of the development of the maxillary arch and evaluation of palatal morphology were accomplished from reformatted CT scans from plaster casts of the maxilla at the age of 4, 10 and 15 years (cleft patients) and 10 years (controls). Width and symmetry of the maxillary arch and morphology of the hard palate were assessed in the canine and molar region and compared both among the cleft groups and the controls. Maxillary arch width as assessed from plaster casts did not differ significantly between uni- and bilateral cleft patients and was not significantly different from controls at the age of 10. Deviation from symmetry was present in both types of cleft and significant in unilateral clefts when compared to bilateral clefts and non-cleft patients. Palatal morphology did not differ significantly between uni- and bilateral clefts until the age of 15, but was significantly different from control patients in the molar area at the age of 10 presumably due to the medial shift of soft tissue flaps used for palatoplasty. It is concluded that palatoplasty significantly alters hard palate morphology particularly in the posterior area. The relevance of this alteration for speech and articulation remains to be explored.

[Multisegmental image fusion of the spine]. / Mehrsegmentale Bildfusion an der Wirbelsäule.

Fusion of medical images is a technique that permits the correlation of homologous anatomical structures in different imaging modalities on the basis of a spatial transformation of the data sets. CT and MRI of the spine provide complementary information of possible relevance for diagnostic and therapeutic decisions. Methods enabling a multisegmental CT-MRI fusion of the spine were developed. These solve the problem of altered spatial relationships of the individual anatomical structures due to differing patient positioning in successive data acquisitions. Routine clinical CT and MRI data of a thoracic section of the spine were obtained and transferred to a PC-workstation. Following segmentation of the CT-data, landmarks for each individual vertebra were defined in the CT and MRI data. For each individual vertebra the algorithm we developed then carried out a rigid registration of the CT information to the MR data. The fused data sets were presented as colour-coded images or on the basis of dynamic variation of transparency. To assess registration precision, fiducial registration errors (FRE) and target registration errors (TRE) were calculated. The algorithm permitted multi-segmental image fusion of the spine. The average time required for defining the landmarks was 22 seconds per landmark for CT, and 34 seconds per landmark for MR. The average FRE was 1.53 mm. The TRE for the vertebrae was less than 2 mm. The colour-coded images were particularly suitable for assessing the contours of the anatomical structures, whereas dynamic variation of the transparency of overlapping CT images enabled a better overall assessment of the spatial relationship of the anatomical structures. The algorithm permits precise multi-segmental fusion of CT and MR of the spine, which was not possible using current fusion-algorithms due to variations in the spatial orientation of the anatomical structures caused by different positioning of the axial skeleton in successive examinations.

[Development of a universal interface for the exchange of medical image data using magneto-optical media]. / Entwicklung einer universellen Schnittstellenumgebung zur Ubertragung medizinischer Bilddaten mit magnetooptischen Medien.

Digital images generated by medical imaging form the basis for radiological diagnosis and surgical planning. Despite the advent of the DICOM 3.0 standard for medical image communication, widespread application of the existing information is often limited by incompatibility of the data formatting used by different equipment generations, and the manufacturer-specific standards employed. An exchange interface based on magneto optical discs has been developed to retrieve and present medical image data regardless of the technological hardware and the specific formats used. Specially adapted routines to retrieve the data first had to be developed. A modular program structure was used to allow flexibility in the implementation of further routines and other exchange media. Over 20,000 CT and MRI images including header information obtained from different General Electric and Siemens scanners were extracted successfully from MO discs. The image data were used for follow up and surgical planning and were transferred to a PAC-server. The interface proved reliable and easy to use. Support for further proprietary formats is currently being developed. The present exchange interface permits reliable retrieval of digital images for diagnostic and surgical planning purposes, regardless of the hardware generation and manufacturer-specific formats.

[Primary angiitis of CNS (PACNS)]. / Die primäre Angiitis des ZNS (PACNS).

Primary angiitis of the CNS (PACNS) is a rare inflammatory disease affecting middle-aged patients. The angiitis is focal and segmental in distribution, involving small and medium-sized leptomeningeal and intracranial vessels. The most frequent presenting symptoms are headaches, focal neurologic deficits, and confusion. In addition, aphasia, neuropsychological deficits, and seizures may occur. The paper presents a review of the literature. In addition, a typical case of PACNS is presented. This case demonstrates that diagnosis of PACNS is difficult and brain biopsy is essential to confirm it.

[Radiotherapy in Langerhans-cell histiocytosis. 2 case reports and review of the literature]. / Strahlentherapie bei der Langerhanszell-Histiozytose. Zwei Einzelfallberichte--Literaturübersicht.

The use of radiotherapy in the treatment of Langerhans' cell histiocytosis was first reported in the literature in 1930 and has been proven as effective in numerous studies. We present the results of two female adults with eosinophilic granuloma of bone who underwent conventionally fractionated radiation therapy with total doses of 7 x 1.8 Gy and 7 x 2.0 Gy in four different sites. After observation periods raging from three months to six years local control of the disease was achieved in all treated locations. A review of 18 previously published studies include a total of 310 sites of eosinophilic granuloma of bone in 216 patients. It was demonstrated in 13 studies that the patients had complete relief of symptoms. An average of 94.3% had local control of the symptoms. Furthermore, in 12 studies for a total of 344 cases with involvement of other organs local control was reported in an average of 64.8% (range: 14.3-100%). Based on our own observations and on the literature review we conclude that low dose radiation therapy plays an important role in the management of localised Langerhans' cell histiocytosis. In order to minimise the risk of radiation induced neoplasms an accurate and precise radiation technique is required.

[Duodeno-ileal fistula development due to retroperitoneal lymph node metastases of sigmoid carcinoma]. / Duodenoileale Fistelbildung durch retroperitoneale Lymphknotenmetastasen eines Sigmakarzinomas.

We report on a 75-year-old patient suffering from persistent diarrhea with consecutive weight loss of 50 kg over a nine month period. Three years ago the patient had been operated on a sigmoid cancer. Ultrasonography and CT-scan revealed retroperitoneal masses due to lymph node metastases. Enteroclysis demonstrated a fistula between the duodenum and the terminal ileum. Whereas duodenocolic fistulae due to malignancies are well known to the best of our knowledge a fistula between retroperitoneal parts of the duodenum and the intraperitoneal intestine have not descripted so far.

[Computerized tomography detection of portal vein air accumulation in severe gastroenteritis during chemotherapy]. / Computertomographischer Nachweis portalvenöser Luftansammlungen bei schwerer Gastroenteritis unter Chemotherapie.

Portal venous gas is caused by various pathological processes, both iatrogenic (complications of endoscopy) and non-iatrogenic (bowel ischemia, obstruction, perforated gastric ulcer, septicaemia). We report an immunocompromised patient suffering from metastatic cancer of the breast who developed severe gastroenteritis. Plain radiographs of the abdomen showed branching tubular lucencies that extended from the porta hepatis widely over the liver. A computed tomography performed to exclude air in the biliary tract demonstrated portal venous gas. Although the finding of portal venous gas has been associated with a high mortality rate and usually necessitates surgery, our patient survived without surgical intervention.

[Minimally invasive stereotactic breast biopsy with the "mammotome". Methodology and personal experiences]. / Minimal-invasive stereotaktische Mammabiopsie mit dem "Mammotome". Methodik und eigene Erfahrungen.

A new method of minimally invasive breast biopsy is described. The system components are a stereotactic biopsy table, a digital mammography, an automatic, computer-assisted needle positioning device and a new vacuum core biopsy needle. With this needle multiple core biopsies can be collected through a single insertion. The procedure was performed as outpatient status and was very well tolerated by the patients. Our experiences with this method are very promising. The method will reduce the relation of benign to malignant histology in open biopsies.