In the past 10 years, several monogenetic abnormalities have been identified in families with congenital intestinal transport defects. Wright and colleagues 2 described the first, which concerns congenital glucose and galactose malabsorption. Subsequently, altered genes were identified in partial or total loss of nutrient absorption, including cystinuria, lysinuric protein intolerance, Menkes’ ...

Article: Unclear abdominal discomfort: pivotal role of carbohydrate malabsorption Goebel-Stengel M, Stengel A, Schmidtmann M, van der Voort I, Kobelt P, Mönnikes H.

The celiac disease represents an important chronic digestive disorder due to the consequences of the malabsorption syndrome and the complications which may appear during adulthood. The paper focuses on recent epidemiological data, and presents both the typical and atypical disease forms and the necessity for investigating the whole range of risk groups for the diagnosis of the silent and latent...

A case of progressive spinocerebellar syndrome due to isolated vitamin E deficiency is reported. Measurement of the vitamin E concentration in serum should be included when investigating all children with unexplained, progressive ataxia, even in the absence of malabsorption. Replacement treatment in patients with a vitamin E deficiency can arrest or improve the associated neurological disorder.

A patient presenting with features suggestive of malabsorption syndrome is described who had florid intestinal schistosomiasis on peroral biopsy of the jejunum. Liver biopsy and rectal biopsy also revealed schistosomal ova. Biochemical studies revealed severe hypoproteinaemia and hypoalbuminaemia, caused by a protein losing enteropathy. This is the first reported case of protein losing enteropa...

BACKGROUND AND AIM Narrow band imaging with magnification enables detailed assessment of duodenal villi and may be useful in predicting the presence of villous atrophy or normal villi. We aimed to assess the morphology of duodenal villi using magnification narrow band imaging and correlate it with histology findings in patients with clinically suspected malabsorption syndrome. METHODS Patient...

We describe a case in which a woman with a history of gastric bypass surgery and malabsorption syndrome sustained an intertrochanteric fracture after a fall from standing. The patient underwent surgical fixation two weeks after the injury. The radiologic appearance and pathophysiology of this event are discussed.