Left paraduodenal hernia: a case report.

Congenital internal hernias often remain unrecognized since they are infrequent and produce nonspecific abdominal symptoms. Abdominal imaging during a symptomatic episode leads to the diagnosis. Surgical treatment is essential regarding the risks of incarceration. We report a case of left paraduodenal hernia misdiagnosed for over thirty years despite extensive imaging and surgical exploration.

Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease.

Intestinal neurofibromatosis without other manifestations of von Recklinghausen's neurofibromatosis was found in a multigeneration family. Neurofibromas were strictly limited to the intestine. Onset of symptoms was delayed until adulthood and some gene carriers remained asymptomatic into their middle or late adult years. One other family with intestinal neurofibromatosis has been described in 1966. No symptomatic male is yet known, although an asymptomatic male in our family is an obligate gene carrier. The gene for intestinal neurofibromatosis may be incompletely penetrant and its expression varies even in symptomatic patients. No male-to-male transmission has been recorded to rule out X linkage. Intestinal neurofibromatosis presents as a distinctive dominant phenotype with an increased risk of intestinal problems including bleeding, intussusception and obstruction.

Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14.

A translocation was found in members of a family with intestinal neurofibromatosis, a rare dominant disorder phenotypically distinct from von Recklinghausen neurofibromatosis. The translocation was reciprocal between chromosomes 12 and 14. Four of 5 family members carrying the gene for intestinal neurofibromatosis had the translocation. This may be due to change alone or linkage of the gene for intestinal neurofibromatosis to one of the translocation breakpoints in chromosome bands 12q13 and 14q13.