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Wir präsentieren einen 39-jährigen Mann mit spontaner Karotisdissektion, die sich mit hoher Wahrscheinlichkeit auf ein molekulargenetisch nachgewiesenes Loeys-Dietz-Syndrom (LDS) zurückführen lässt. Das sehr seltene, autosomal dominant vererbte Syndrom manifestiert sich üblicherweise in der Kindheit mit der typischen Trias Hypertelorismus, Gaumenspalte und einem Aortenaneurysma. Typisch sind auch Aneurysmen in anderen Gefäßen, arterielle Tortuositäten und kraniofaziale Charakteristika. Im präsentierten Fall konnten nur sehr diskrete Hinweise für eine bestehende Bindegewebsschwäche gefunden werden, sodass wir von einer sehr geringen Penetranz des Gens ausgehen. Die im Rahmen der erweiterten Diagnostik detektierten Gefäßveränderungen müssen engmaschig überwacht werden. Insbesondere die Verlaufskontrolle eines Aortenaneurysmas und intrakranieller Aneurysmen ist zu beachten. Eine molekulargenetische Beratung von Familienangehörigen ist angezeigt. Unser Fallbericht zeigt auf, dass bei „spontanen“ Zervikalarteriendissektionen immer nach einer angeborenen Bindegewebsschwäche gesucht werden sollte. Eine molekulargenetische Abklärung sollte niederschwellig angeboten werden, da die Identifizierung einer bislang nicht bekannten angeborenen Bindegewebsschwäche wesentlich zur Primär- und Sekundärprophylaxe eines Hirninfarktes beiträgt.

We examined the efficacy of physical therapy and adjunctive botulinum toxin type A (BTX-A) injections in the treatment of cervical headache. We performed a doubleblind, randomised, placebo-controlled study over a 12-week period in a university clinic outpatients department. A total of 33 patients with cervical headache, diagnosed according to International Headache Society classification were enrolled. All patients received standardized physical therapy over a three-week period. Patients were randomised to receive either BTX-A (Botox) or placebo. The BTX-A group received a total dose of 90 mouse units (mu) BTX-A at six trigger points while the placebo group received saline. Pain characteristics were reported in a headache diary. Tenderness in the neck muscles, the sagittal range of motion and biofeedback measurement were also documented. Both groups showed significant improvement in terms of headache severity (p<0.05), number of headache-free days (p=0.005) and number of headache hours per day (p<0.05). Trends towards an increase in the number of headache-free days and a decrease in headache hours per day were observed in the BTX-A group. No major side effects were observed. Physical measures and BTX-A injections are safe and effective in the treatment of cervical headache.

Schnider P, Birner P, Gendo A, Ratheiser K, Auff E. Bladder volume determination: portable 3-D versus stationary 2-D ultrasound device. Arch Phys Med Rehabil 2000;81:18-21. Objective:To investigate how accurately a portable three-dimensional (3-D) scanner and a multipurpose two-dimensional (2-D) real-time scanner determined bladder volumes. Study Design:Prospective, controlled clinical trial, single-blind, crossover design. Setting and Participants:Twenty-three inpatients with permanent bladder catheters participated voluntarily in this study. Methods:The bladders of 20 patients were filled through an indwelling catheter with 60, 110, 160, 210, and 260mL sterile normal saline. Volumes were measured twice with each device. Measurements were compared with the actual bladder volumes. Results:The 2-D device showed better reproducibility, particularly at lower bladder volumes. The 3-D scanner showed a significant difference between the two measurements at 160mL (p< .05) and had poor reproducibility at 110, 210, and 260mL. Both devices overestimated actual bladder volume at fillings of <160mL and underestimated it at fillings of ≥160mL. The range between the 25th and 75th percentiles was always larger for the 3-D scanner, except for the 210mL reading. Conclusion:Both devices showed sufficient accuracy for clinical practice. Ultrasound measurements of >110mL should be followed by catheterization to detect potentially harmful bladder volumes. © 2000 by the American Congress of Rehabilitation Medicine and the American Academy of Physical Medicine and Rehabilitation

Botulinum A toxin is a potent inhibitor of acetylcholine on the presynaptic level and widely used in the treatment of focal dystonias. Recently, local and systemic side effects on the autonomic nervous system after botulinum A toxin treatment have been suggested. To evaluate possible side effects on the pupillary reflexes, we measured diameter and light evoked changes of the pupil by using static and dynamic pupillometry before and after treatment with botulinum A toxin on days 1,8, 15, and 22 in nine torticollis and seven blepharospasm patients. Patients were treated with either 12.5 ng (torticollis group) or 2.5 ng botulinum A toxin (blepharospasm group). Pupillary diameter as well as light evoked changes showed no relevant fluctuations during the observed period in both diagnostic groups, suggesting that botulinum A toxin may be safely used in the treatment of focal dystonias.