BACKGROUND Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported cases have been molecularly studied to date. Recessive mutations in CUBN or AMN cause Imerslund-Gräsbeck Syndrome (IGS), while recessive mutations in GIF cause Intrinsic Factor...

The pathology of the parathyroid glands in two cases in which hyperparathyroidism was associated with chronic renal disease and 10 in which the association was with the malabsorption syndrome is described. It is concluded that whereas in chronic renal disease the development of an autonomous adenoma may be preceded by anatomical secondary diffuse hyperplasia such a stage is not proven when the ...

A case of the Zollinger-Ellison syndrome, presented with watery diarrhoea, malabsorption and multiple duodenal ulcers. Resection of a gastrinoma from the head of the pancreas was ineffective. Cimetidine, administered for more than 30 months produced an immediate and sustained relief of symptoms with a gain in weight of 19 kg and improvement of the biochemical features of malabsorption. Gastric ...

Cases of sprue-like enteropathy associated with olmesartan have sporadically been encountered since it was first reported in 2012, and their most characteristic manifestation is severe diarrhea. We herein report the first case of sprue-like enteropathy manifesting as Wernicke-Korsakoff syndrome due to vitamin B1 malabsorption with only minimally increased bowel movements. When patients are rece...

Bile acid malabsorption is a common cause of chronic diarrhoea in people, however it has never previously been investigated in dogs, despite clinical suspicion of its existence. The goal of this study was to assess the feasibility of measuring serum 7α-hydroxy-4-cholesten-3-one (C4) in dogs, as a potential marker of bile acid malabsorption, and to see whether this is related to clinical disease...

Cobalamin (vitamin B12) deficiency is particularly common in the elderly (>65 years of age), but is often unrecognized because its clinical manifestations are subtle; however, they are also potentially serious, particularly from a neuropsychiatric and hematological perspectives. In the general population, the main causes of cobalamin deficiency are pernicious anemia and food-cobalamin malabsorp...

EDITORIAL SYNOPSIS The number of conditions which can result in intestinal malabsorption increases steadily. The one described by the authors in this paper follows infestation with Strongyloides stercoralis which is widespread in the tropics. Features suggesting the diagnosis in a patient with malabsorption are, according to the authors, persistent vomiting due to duodenal involvement and chara...

INTRODUCTION The term ‘malabsorption syndrome’ is non-specific and would seem to include diseases in which some abnormality of absorption exists. Though they may be of varied aetiology, most of them resemble each other and exhibit protein, carbohydrate, fat, minerals and vitamins deficiency. The clinical manifestations are similar to the disease known as `Sprue’ that is why the term malabsorpti...

Vitamin A deficiency (VAD) can cause a range of ocular manifestations, including night blindness, conjunctival and corneal xerosis and keratomalacia. It is an important cause of preventable blindness. Although usually a result of malnutrition, VAD can accompany malabsorption syndrome. We report a case of VAD as manifested by Bitot's spots and eventually diagnosed to have celiac disease. It is, ...

BACKGROUND Anemia is a common accompaniment of cerebral palsy, mental retardation and neurodegenerative disorders. CLINICAL CHARACTERISTICS A 4-year-old boy with chronic megaloblastic anemia, global developmental delay, seizures, intracranial calcification and new onset neuro-regression. OBSERVATION A diagnosis of hereditary folate malabsorption was made, and he was put on oral and injectab...