Congenital Steatorrhoea

Abstract

IN this paper we present a clinical and analytical study of a case of eongenital steatorrhoea and compare it with the only previous example of the condition as yet reported. The term steatorrhoea, which has sometimes been used to cover all cases passing an obvious excess of fat in the stools (fatty diarrhoea, diarrhoea alba), is here used in its more correct and restricted sense, namely, as indicating a passage from the bowel of separated liquid fat which congeals on cooling (Butterstiihle). This phenomenon, which patients may describe as the passage of butter, oil, or grease, is one of comparative rarity. Acquired steatorrhoea is a well-known symptom. The most clearly defined of such cases are those associated with acquired disease of the pancreas, in which the steatorrhoea is regarded as due to a failure of the action of the pancreatic lipase. Indeed it is generally held, as Salomon has stated (5), that true steatorrhoea is observed only in pancreatic disease. Congenital steatorrhoea, in which the stools are abnormal from birth, has, so far as we know, only been studied in a single case up to the present time. This unique case was reported in 1913 by Garrod and Hurtley (3) under the title of Congenital Family Steatorrhoea.

Fibrocystic Disease of the Pancreas

“…The clinical picture is highly characteristic, but it must be emphasized that an accurate history is essential, and close questioning may be required to obtain this, as noted by Miller and Perkins (1920). The disease should be suspected in all cases of chronic nutritional difficulty and chronic respiratory infection in children, and specific questions asked about appetite, weight-gain, the character of the stools in regard to number, size, and smell, the exact date of onset of any abnormality noted, and the family history, especially of infantile deaths, In a number of cases the abnormality of the stools, while present from early infancy, becomes more obvious when solids are added to the diet or even later, and this overshadows the history.…”

“…Henderson (1945) recorded one case and MacGregor and Rhaney (1948) two cases in siblings. Previously, under the title of congenital steatorrhoea, Miller and Perkins (1920) and Cockayne (1933) each described one probable case of fibrocystic disease, and Clarke and Hadfield (1924) a proved case, for necropsy showed the pancreatic lesions which are now associated with this disease. It is unlikely that the case described by Garrod and Hurtley (1913) under the same title was one of fibrocystic disease, since Garrod (1920) subsequently reported that this patient was of normal development and activity at the age of 14 years.…”

Fibrocystic Disease of the Pancreas

“…In all the present cases the diagnosis was made clinically and was never disproved by subsequent examination of the duodenal juice or by necropsy. The clinical picture is highly characteristic, but it must be emphasized that an accurate history is essential, and close questioning may be required to obtain this, as noted by Miller and Perkins (1920). The disease should be suspected in all cases of chronic nutritional difficulty and chronic respiratory infection in children, and specific questions asked about appetite, weight-gain, the character of the stools in regard to number, size, and smell, the exact date of onset of any abnormality noted, and the family history, especially of infantile deaths, In a number of cases the abnormality of the stools, while present from early infancy, becomes more obvious when solids are added to the diet or even later, and this overshadows the history.…”