Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome?

We report on a 16-year-old intelligent and sportive boy with the cutaneous findings of phacomatosis pigmentovascularis unclassifiable type.The skin anomaly was lateralised to his left body side since birth, fading over the years. Because of headache and dizziness, brain magnetic resonance imaging was performed, which revealed an impressive enlargement of subependymal, deep and superficial medullary veins on the right side combined with a mild atrophy of the ipsilateral parietal region. We propose to investigate patients with phacomatosis pigmentovascularis for associated venous brain malformations with adequate imaging techniques.

The accuracy of abdominal ultrasound in the assessment of bowel disorders.

BACKGROUND: Little is known about the sensitivity, specificity, and predictive values of transabdominal ultrasonographic (US) findings in a teaching hospital setting. METHODS: We carried out a prospective study including 227 patients with symptoms suggestive of inflammatory bowel disorder. The Picker 9200 CS equipment (5-mHz curved-array probe) was used to obtain bowel images. Gastrointestinal endoscopy, enteroclysis, bowel enema, computed tomography scan, or bowel surgery was used as reference. RESULTS: Of 227 patients, 168 had pathologic findings of the bowel as final diagnosis. The overall sensitivity of US was 76%, whereas the positive predictive value was 98%. Overall specificity was 95%. The negative predictive value for bowel disorders was only 58%, since US missed pathologic findings in 48 patients. Subgroup analysis showed a sensitivity of 84% for Crohn's disease, 66% for ulcerative colitis, 46% for bowel tumors, and 60% for diverticulitis. Topographic comparisons showed that US detected inflammatory bowel-wall alterations preferentially in the terminal ileum and colon, whereas abnormalities in the duodenum, jejunum, and rectum were frequently missed (sensitivity, 10%-20%). CONCLUSIONS: Positive US findings are useful for the diagnosis of bowel processes. US is highly predictive albeit not disease-specific. Negative US examinations, however, do not exclude pathologic bowel processes. A topographic location of pathologic US findings is mostly confined to the colon.