An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.

Case Report Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.

Hermansky-pudlak syndrome: report of a case and review of the literature.

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.

Rapid Death Due to Alcohol Withdrawal Syndrome: Case Report and Review of Literature

Background: Alcohol withdrawal syndrome (AWS) is one of the most serious complications associated with chronic alcoholism. Sudden deaths are not uncommon in AWS. In severe stages of AWS, delirium tremens (DT) occurs, which is characterized with agitation, global confusion, disorientation, visual and auditory hallucinations in addition to autonomic hyperactivity. Case report: A 30-year old man, ...

Unusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature

  We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family