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Background: Facioscapulohumeral muscular dystrophy (FSHD) presents with 2 genetically distinct types. We describe for the first time the MRI patterns of leg muscle involvement in type 2 and compare it with type 1. Methods: The intramuscular fat content was assessed on lower extremity axial T1-weighted MRI scans in 6 FSHD1 and 5 FSHD2 patients. Results: Overall, the muscle involvement profile did not differ substantially between FSHD1 and FSHD2. In the thigh, the dorsomedial compartment including the semimembranosus, semitendinosus and adductor magnus was the most affected. The quadriceps was mostly spared, but isolated involvement of the rectus femoris was common. Fat infiltration in the distal soleus and the medial gastrocnemius with sparing of the lateral gastrocnemius was a common finding; involvement of the tibialis anterior was less frequent. A proximal-to-distal increase in fat content was frequently present in some muscles. Conclusion: Muscle involvement appears to be independent of type, confirming a similar pathophysiological pathway in FSHD1 and FSHD2.

We present a long-term follow-up examination concerning patients with isolated extra-ocular muscle involvement in thyroid-related orbitopathy. Within the previous 13 years we observed 7 patients with endocrine orbitopathy and marked myopathy of the extra-ocular muscles. Five of these patients had no detectable proptosis, 2 of them showed a minimal unilateral proptosis. Five patients showed elevated thyroid-stimulating hormone (TSH) receptor auto-antibodies and 6 patients a marked swelling of the extra-ocular eye muscles on CT or MRI scans. One patient had elevated antibodies against thyroid peroxidase and against thyroglobulin and normal TSH receptor auto-antibodies. Four of 7 patients underwent clinical and radiological follow-up examination 1–9 years later. In 3 of these 4 patients, the clinical syndrome had completely resolved. None of the patients had developed any proptosis. The swelling of the eye muscles on radiological imaging had at least partially resolved. We conclude from our results that apart from the frequent subtype of endocrine orbitopathy with predominant proptosis there is a separate subtype in which proptosis neither exists initially nor develops in the further course. Probably these subtypes have a specific immunological antibody profile although they do not differ concerning the thyroid-stimulating antibodies.

Background and Purpose: To obtain information on the safety, pharmacokinetics and biological activity of enlimomab (anti-ICAM-1 antibody) in stroke patients. Methods: An open, uncontrolled, dose titration study was conducted in 32 patients hospitalized for stroke. Patients received one of four fixed dose regimens of enlimomab. A loading dose of enlimomab administered within 24 h of the onset of stroke symptoms was followed by four daily maintenance doses; total doses ranged from 140 to 480 mg. Results: The pharmacokinetic target levels (enlimomab serum levels of ≥10 µg/ml) were consistently achieved in all patients receiving dose regimens III and IV. Non-serious adverse events thought to be causally related to enlimomab administration included headache, vomiting and extrasystoles. Serious events occurred in 14 patients, including pneumonia, sepsis, cardiac failure and cardiac arrest. The only serious adverse event considered to be related to enlimomab administration was an anaphylactoid reaction, in a patient who received an unfiltered loading dose of antibody; the patient recovered. The overall mortality in the study was 15.6% and the 30-day mortality was 12.5%. There was no increase in the frequency of adverse events with increasing doses of enlimomab. Conclusions: Doses of enlimomab between 140 and 480 mg administered over 5 days did not increase the risk of adverse events in patients with ischaemic or haemorrhagic stroke during an observation period of 30 ± 10 days. A loading dose of 160 mg followed by four daily maintenance doses of 40 mg appears to be suitable for further study.

Background: Clinical and imaging abnormalities similar to those seen in posterior reversible encephalopathy syndrome (PRES) have been observed in patients with eclampsia. It remains unclear whether both conditions are in fact the same disease entity. Methods: We retrospectively identified 21 patients with PRES and separated them into 2 groups: patients who were symptomatic during pregnancy, and a group of non-pregnant patients. We recorded symptoms, premedical history and paraclinical investigations of both groups and compared them to each other. Results: We found 8 pregnant patients and 13 non-pregnant patients with PRES. There was no difference between both groups with regard to symptoms, cerebral imaging, or outcome, apart from a difference in age, the premedical history and a significantly higher occurrence of headache in the pregnant group. All of our pregnant women were primigravid. Follow-up was done over a mean period of 2,171 (range 59–9,396) days. Overall, there was a good clinical outcome. Conclusion: We suggest that PRES in non-pregnant patients and eclampsia presenting with MRI abnormalities similar to those seen in PRES represent the same disease entity, but are triggered by different pathologies.

The loss of brainstem acoustic evoked potentials (BAEP) is considered as a confirmatory test for the diagnosis of brain death in patients with supratentorial lesions. We report a patient with ischemia in the territory of the left middle and anterior cerebral artery, who showed a loss of BAEP waves III-V as a sign of brainstem compression, but maintained spontaneous breathing and EEG activities. We conclude that occasionally BAEP may provide misleading results in the diagnosis of brain death.