{"id":2059,"date":"2009-12-27T20:58:47","date_gmt":"2009-12-28T01:58:47","guid":{"rendered":"http:\/\/insidesurgery.com\/?p=2059"},"modified":"2009-12-27T21:01:37","modified_gmt":"2009-12-28T02:01:37","slug":"niemannpick-disease-types","status":"publish","type":"post","link":"https:\/\/insidesurgery.com\/2009\/12\/niemannpick-disease-types\/","title":{"rendered":"Niemann-Pick Disease (Types A and B)"},"content":{"rendered":"
Pathophysiology<\/strong><\/p>\n 1)<\/strong> lipid storage disease with accumulation of cholesterol and sphingomyelin in tissues 2)<\/strong> cause is defect in sphingomyelinase 3)<\/strong> type A – has neurological disease and onset within the first 6 months of birth 4)<\/strong> type B – absence of neurologic disease and onset in childhood<\/p>\n Signs and Symptoms<\/strong><\/p>\n 1)<\/strong> hepatomegaly 2)<\/strong> progressive neurologic disease (type A) 3)<\/strong> seizures 4)<\/strong> central cherry red spot on funduscopy 5)<\/strong> macular degeneration 6)<\/strong> mental retardation 7)<\/strong> pulmonary\/respiratory failure (type B)<\/p>\n Characteristic Test Findings<\/strong><\/p>\n Laboratory<\/em> – 1)<\/strong> increased LDLs Radiology – 2)<\/strong> reticular pattern in lung fields on chest radiograph with type B<\/p>\n Histology\/Gross Pathology<\/strong><\/p>\n 1)<\/strong> sphingomyelin and cholesterol accumulate in lysosomes of macrophages, forming large foamy cells in liver, lymph nodes, spleen, and lungs 2)<\/strong> shrunken gyri and widened sulci with diffuse vacuolization of neurons<\/p>\n Associated Conditions<\/strong><\/p>\n 1)<\/strong> pulmonary hypertension 2)<\/strong> cor pulmonale 3)<\/strong> bronchopneumonia<\/p>\n Biochemistry<\/strong><\/p>\n mutation in NPC1 gene (gene encodes for a protein that acts in cholesterol transport from lysosome to ACAT)<\/p>\n Inheritance\/Epidemiology<\/strong><\/p>\n 1)<\/strong> autosomal recessive 2)<\/strong> death is often at 10-20 years<\/p>\n Treatment<\/strong><\/p>\n 1)<\/strong> enzyme replacement trials are underway 2)<\/strong> hematopoietic stem cell gene therapy trials are underway 3)<\/strong> bone marrow transplantation has been successful in a limited number of patients 4)<\/strong> whole-lung lavage improves lung functioning<\/p>\n Tips for USMLE<\/strong><\/p>\n 1)<\/strong> central cherry red spot on funduscopy is also seen in Tay Sachy and central retinal artery occlusion 2)<\/strong> Niemann-Pick type C results from defective cholesterol transport across lysosomal membranes 3)<\/strong> if the question mentions foam cells, think Niemann Pick<\/p>\n","protected":false},"excerpt":{"rendered":" Pathophysiology 1) lipid storage disease with accumulation of cholesterol and sphingomyelin in tissues 2) cause is defect in sphingomyelinase 3) type A – has neurological disease and onset within the first 6 months of birth 4) type B – absence of neurologic disease and onset in childhood Signs and Symptoms 1) hepatomegaly 2) progressive neurologic […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[63],"tags":[691,696,694,695,692,693],"yoast_head":"\n