Multiple gastrointestinal atresias with intraluminal calcification

Guttman et al (1973) have recently described a new syndrome characterized by: (1) multiple intestinal atresias from stomach to rectum; (2) typical intraluminal intestinal calcification on plain abdominal films; and (3) a hereditary character with an autosomal recessive form of transmission and almost invariable presentation in siblings. They presented five neonates belonging to three distantly related French-Canadian families from the Lake St. John region of Quebec and suggested an autosomal recessive form of inheritance. Four further cases have been published and in three of them at least one of the parents was of French-Canadian extraction (Martin et al, 1976; Daneman & Martin, 1979; Teja et al, 1981). Characteristic oval opacities visible on plain abdominal films and due to calcification of intraluminal contents have been present in all reported cases and are considered pathognomonic of this syndrome (Daneman et al, 1979). We present a new case with the typical clinical, radiological and pathological manifestations. This represents the first example reported from outside North America. A 2425 g male infant born at the 35th week of an uncomplicated pregnancy presented at 18 hours with bile-stained vomiting and failure to pass meconium. On physical examination the abdomen appeared depressed except for slight epigastric distension. No bowel sounds were heard. Plain abdominal films revealed gas in the stomach, duodenum and proximal portion of jejunum and no gas distally. Dense, intraluminal calcification was seen in the left lower quadrant. Smaller areas of calcification were visible on the right side (Fig. 1).