Hypertrophic pyloric stenosis: adult and congenital types occurring in the same family.

Congenital Anomalies of the Gastrointestinal Tract Diagnosed in Adulthood—Diagnosis and Management

“…1 The exact occurrence of this form cannot be estimated accurately, since the majority of these patients are asymptomatic for years. Zavala et al 2 reported on a family with both congenital and adult type of hypertrophic pyloric stenosis. This hypothesis is further supported by the fact that approximately 80% of patients with the adult form of the disease are men, which is in accordance with the male predominance of congenital pyloric stenosis.…”

“…8 AIHPS can coexist with other rare congenital anomalies, such as congenital hypothyroidism, congenital diaphragmatic hernia, congenital short bowel, jejunal atresia, and recessive polycystic kidney disease. 2,9 The radiologic and endoscopic studies are often nonspecific. In upper GI series, the diagnosis should be suspected in case there is elongation of the pyloric canal accompanied often by a marked dilatation of the stomach.…”

Idiopathic Hypertrophic Pyloric Stenosis Combined with Left Paraduodenal Hernia in an Adult

“…Probably there is no common etiopathogenetic background that could connect these two congenital conditions. However, congenital hypertrophic pyloric stenosis has been described in association with other congenital anomalies, such as congenital mesoblastic nephroma, nephrocalcinosis, recessive polycystic kidney disease, penile agenesis, jejunal atresia, congenital short bowel, congenital diaphragmatic hernia and congenital hypothyroidism [1,7] .…”

“…A certain percentage probably represent an incomplete form of congenital pyloric stenosis, which becomes symptomatic later in life. Zavala et al [1] reported on a family with both congenital and adult type of hypertrophic pyloric stenosis. This assumption is further supported by the fact that almost 80% of the patients with primary adult hypertrophic pyloric stenosis are men, which is in accordance with the male predominance of congenital pyloric stenosis [1,6,7] .…”

“…Its incidence is estimated at about 0.25-0.5% of all births. Its clinical manifestations usually become obvious during the first 2 months of life [1] . The presence of pyloric stenosis in adults with characteristics of hypertrophy of the circular muscle layer of the pyloric canal is classified as primary hypertrophic pyloric stenosis and it is considered a mild form of congenital pyloric stenosis revealed in adult life [2] .…”