Cervicothoracic intradural arachnoid cyst misdiagnosed as motor neuron disease.

Recognizing syndromes which mimic ALS is crucial both to avoid giving this diagnosis erroneously and since there may be appropriate treatments. We report a 63-year-old woman diagnosed with possible ALS five years ago based on upper and lower motor neuron signs with typical electrophysiology and normal cranial MRI. At reassessment, spinal MRI revealed a cervicothoracic cyst with cord compression that was successfully treated neurosurgically. Histopathology confirmed an arachnoid origin as suspected from MRI. Spinal cysts may mimic ALS and need to be thoroughly excluded by appropriate imaging.

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenting with congenital cataract, severe muscular hypotonia, developmental delay, sensorineural hearing loss and cytochrome-c oxidase deficiency with repeatedly low copper and ceruloplasmin levels. These findings were suggestive of a copper metabolism disorder. In support of this, the patient's fibroblasts showed an increased copper uptake with normal retention. Detailed follow-up examinations were performed. Immunoblotting for several proteins including ATP7A (MNK or Menkes protein), ATP7B (Wilson protein) and SOD1 showed normal results, implying a copper metabolism defect other than Wilson or Menkes disease. Sequence analysis of ATOX1 and genes coding for proteins that are known to play a role in the mitochondrial copper metabolism (COI-III, SCO1, SCO2, COX11, COX17, COX19) revealed no mutations. Additional disease genes that have been associated with cytochrome-c oxidase deficiency were negative for mutations as well. As beneficial effects of copper histidinate supplementation have been reported in selected disorders of copper metabolism presenting with low serum copper and ceruloplasmin levels, we initiated a copper histidinate supplementation. Remarkable improvement of clinical symptoms was observed, with complete restoration of cytochrome-c oxidase activity in skeletal muscle.

Results of a prospective multicenter study for evaluation of the diagnostic quality of an open whole-body low-field MRI unit. A comparison with high-field MRI measured by the applicable gold standard.

OBJECTIVE: To evaluate the diagnostic quality of an open whole-body low-field MRI scanner compared to high-field scanners. MATERIALS AND METHODS: Over a period of 3 months, 401 patients with diseases of the kidney (n = 78), the shoulder (n = 122), the spine (n = 105) and the cerebrum (n = 96) were prospectively evaluated in four participating centers. They all underwent clinical evaluation, low-field and high-field MRI examination and surgical or follow-up confirmation of diagnosis. Clinical, histopathologic, high-field and low-field MRI diagnoses were recorded in standardized questionnaires that were centrally evaluated. Statistical evaluation comprised two parts: ROC analysis assessed accuracy of MRI and clinical diagnoses; furthermore rates of concordance of high- and low-field MRI diagnosis were calculated. RESULTS: We found no statistically relevant difference in high-field MRI diagnosis compared to low-field MRI diagnostic accuracy measured by clinical or surgical gold standard in three of the four regions examined; in cerebral examinations there was a small yet significant advantage for the high-field systems (P = 0.01). CONCLUSION: We conclude that the open low-field scanner we evaluated using clinical and surgical gold standard as reference is able to achieve comparable diagnostic accuracy compared to high-field scanners at lower costs and greater patient comfort. Limitations due to field strength (signal-to-noise ratio, resolution, scan time) seem to be relevant only in a very small number of cases that warrant high-field examination.

0.2-Tesla magnetic resonance imaging of internal lesions of the knee joint: a prospective arthroscopically controlled clinical study.

The results of magnetic resonance imaging (MRI) were compared with those of arthroscopy in a prospective series of 244 patients. A dedicated system for MRI of limbs and peripheral joints--the 0.2-T Artoscan (Esaote, Italy)--was used for imaging knee joint lesions. T1-weighted spin-echo sagittal images, T2-weighted gradient-echo coronal images, and axial views for lesions of the femoropatellar joint were acquired. Paraxial sagittal and oblique coronal views were obtained for imaging of the cruciate ligaments. This protocol allowed excellent visualization of the cruciate ligaments and medial and lateral meniscus in almost all patients. Compared with arthroscopy performed within 48 h after imaging, the sensitivity, specificity, and accuracy were respectively 93%, 97%, and 95% for tears of the medial meniscus; 82%, 96%, and 93% for tears of the lateral meniscus; 100%, 100%, and 100% for tears of the posterior cruciate ligament; 98%, 98%, and 97% for tears of the anterior cruciate ligament; and 72%, 100%, and 92% for full-thickness articular cartilage lesions. The examination can be performed within 30-45 min at lower cost than diagnostic arthroscopy. MRI with a 0.2-T magnet is a safe and valuable adjunct to the clinical examination of the knee and an aid to efficient preoperative planning.

[Videocinematography and pre- and postoperative diagnosis of lip-maxillary-palatal clefts]. / Die Videokinematographie in der prä- und postoperativen Diagnostik der Lippen-Kiefer-Gaumen-Spalte.

Videocinematography is a valuable tool in the diagnostic workup and planning of functional surgery in cleft patients. The high resolution and depiction of the finest mucosal structures in motion allow objective and dynamic assessment of the individual velopharyngeal function. A total of 170 cleft patients were examined by videocinematography, and the results were compared to nasoendoscopy and to the clinical examination. The marked superiority of this radiological technique with regard to clearness of depiction and ease of use is shown. It can therefore be recommended without reservation for the pre- and postoperative assessment of cleft patients.

[Computerized tomography staging of carcinomas of the uterus]. / Computertomographisches Staging von Karzinomen des Uterus.

In the staging of uterine carcinoma, CT is used for the assessment of uterus size and configuration, tumor infiltration into the pelvic soft tissues, involvement of the ureters with urine retention, and lymph node enlargement. Evaluation of parametrial infiltration, which is of utmost importance for therapeutic strategy, is less reliable. CT tends to over-stage parametrial infiltration and is thus inferior not only to MRI, but also to clinical examination if parametrial infiltration is excluded. Partial volume effects may obscure or mimic tumor invasion into the bladder or rectal wall and thus reduce CT accuracy. The value of CT for the staging of uterine carcinoma lies in the assessment of advanced stages of cervical carcinoma and lymph node involvement.