We present the case of a 29-year-old south Asian man born of consanguineous marriage, presenting with ataxia, peripheral neuropathy and cognitive impairment. An initial diagnosis of coeliac disease was thought to explain the pertinent clinical features; however, further investigation led to an additional diagnosis of the rare yet treatable autosomal recessive condition, cerebrotendinous xanthomatosis. With both conditions employing highly diverse and overlapping clinical phenotypes, this contributed to a delay in diagnosis. Our report highlights the importance of paying close attention to both the clinical phenotype and family history.
Although histamine has been isolated f rom the intestinal mucosa,' and from the combined gastric and intestinal mucosa,2 its isolation from the gastric mucosa alone has not been reported. This report deals with the isolation of the substance in crystalline form, from the pyloric mucosa of the hog, under conditions which preclude the possibility that it is present as a result of putrefaction.The material was obtained at the slaughter house within 30 minutes after the animal was killed. The mucosa was washed with water and immediately subjected to extraction by 1% sulfuric acid in 80% alcohol. Activated charcoal was added to the extract in sufficient quantity to remove all pigment, the extract filtered from the charcoal, and the histamine adsorbed on Lloyd's Reagent (hydrous aluminum silicate). The Lloyd's Reagent was then extracted with dilute aqueous ammonia, which liberated the histamine. The ammoniacal solution was evaporated to a small volume and mixed with 1% times its weight of anhydrous sodium carbonate. On standing overnight in a dessicator, this formed a dry cake. This was powdered and extracted with chloroform in a continuous extraction device, until fresh chloroform extracts no longer gave a Pauly reaction. The combined chloroform extracts were filtered from some gummy substance and extracted with a small amount of water. The aqueous extract was boiled to remove chloroform and volatile bases, and then submitted to fractional precipitation with silver nitrate and barium hydroxide, according to the method of K~t s c h e r .~ The histamine was found in the fraction precipitated by silver in alkaline solution.The silver precipitate was decomposed with dilute hydrochloric acid and the solution evaporated to a small volume. On standing, a crystalline material separated. This was removed by filtration and the filtrate concentrated to a thin syrup. To this, 20 volumes of alcohol were added, then concentrated sulfuric acid was added, 1Barger and Dale,
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.