Rud syndrome consists of mental retardation, epilepsy, ictihyosis, dentition and skeleton defect. We report a case of Rud syndrome that have clinical, radiological and biochemical characteristics of rickets. Alteration in epidermal cholestrol metabolism, limited sun exposure or associated defects may explain this condition. All such patients need life – long rickets prophylaxis with vitamin D s...

Isolated alterations of biochemical markers of liver damage in a seemingly healthy patient can present a challenge for the clinician. In this review we provide a guide to interpreting alterations to liver enzyme levels. The functional anatomy of the liver and pathophysiology of liver enzyme alteration are briefly reviewed. Using a schematic approach that classifies enzyme alterations as predomi...