We report a case of a 6-year-old girl of Afro-Caribbean orig-in, known to have sickle cell disease (SCD), with recurrent history of jaundice and abdominal pain. She was extensively investigated, including endoscopic r...We report a case of a 6-year-old girl of Afro-Caribbean orig-in, known to have sickle cell disease (SCD), with recurrent history of jaundice and abdominal pain. She was extensively investigated, including endoscopic retrograde cholangiopancreatography (ERCP), which revealed diffuse cholangiopathy of both extrahepatic and intrahepatic bile ducts. A pigtail stent was placed and balloon dilatation was performed for stricture of the extrahepatic duct. Since then, she remains well and asymptomatic. We suggest that cholangiopathy is the consequence of sickling in the end arteries of the biliary arterial tree.展开更多
Lafora disease (LD) is the most common teenage onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no m...Lafora disease (LD) is the most common teenage onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyses exclude both loci from causative involvement in this family. Therefore, a third LD locus is predicted. Its identification will be a crucial element in the understanding of the biochemical pathway underlying the generation of Lafora bo dies and LD.展开更多
文摘We report a case of a 6-year-old girl of Afro-Caribbean orig-in, known to have sickle cell disease (SCD), with recurrent history of jaundice and abdominal pain. She was extensively investigated, including endoscopic retrograde cholangiopancreatography (ERCP), which revealed diffuse cholangiopathy of both extrahepatic and intrahepatic bile ducts. A pigtail stent was placed and balloon dilatation was performed for stricture of the extrahepatic duct. Since then, she remains well and asymptomatic. We suggest that cholangiopathy is the consequence of sickling in the end arteries of the biliary arterial tree.
文摘Lafora disease (LD) is the most common teenage onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyses exclude both loci from causative involvement in this family. Therefore, a third LD locus is predicted. Its identification will be a crucial element in the understanding of the biochemical pathway underlying the generation of Lafora bo dies and LD.
