Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformations.

Background: Cerebral cavernous malformations (CCM) are vascular brain anomalies which can result in a variety of neurological symptoms. Familial CCM is inherited as an autosomal-dominant trait. There is one study in the literature which reports statistical evidence for anticipation in familial CCM.

[Significance of health-related quality of life and religiosity for the acceptance of chronic pain].

Background: Modern medical analgesia is based on a bio-psycho-social model of disease. From this bio-psycho-social perspective it seems essential to include religiosity in the multidimensional and interdisciplinary assessment of pain patients.

Material And Methods: A total of 450 consecutively referred in- and outpatients to a neurological department completed an epidemiologic pain questionnaire.

Retropharyngeal tendinitis: a rare differential diagnosis of severe headaches and neck pain.

Retropharyngeal tendinitis is a rare cause of intense neck pain and occipital headache. It is caused by an aseptic inflammatory process in the longus colli tendon, triggered by deposition of calcium hydroxyapatite crystal. Clinically, it can be misdiagnosed as retropharyngeal abscess, traumatic injury, infectious spondylitis, cervical artery dissection, or even meningitis.

Rapid geographical clustering of wound botulism in Germany after subcutaneous and intramuscular injection of heroin.

Background: Wound infections due to Clostridium botulinum in Germany are rare and occur predominantly in heroin injectors, especially after subcutaneous or intramuscular injection of heroin ("skin popping"), which is contaminated with spores of C. botulinum. We report a rapid geographical clustering of cases in Germany in a region between Cologne, Bonn, and Aachen with wound botulism and consecutive systemic C.

Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate.

Aceruloplasminemia is an autosomal recessive and phenotypically primarily neurodegenerative disease caused by a homozygous mutation of the ceruloplasmin gene. The absence of ceruloplasmin and its ferroxidase activity leads to pathological iron overload in the brain and other organs. While heterozygous carriers of ceruloplasmin gene mutations have been believed to be asymptomatic, a number of cases with neurological deficits have recently been described.