Hereditary multiple intestinal atresia: thirty years later

Abstract

Background Hereditary multiple intestinal atresia (HMIA) is an unusual form of intestinal atresia with a presumed autosomal recessive mode of inheritance. The aim of this study was to review the authors’ experience with this disease, 30 years after its first description. Methods All cases of HMIA treated at the authors’ institution were reviewed with a particular focus on presence of close consanguinity in the families, prenatal diagnosis, radiologic and surgical findings, pathology report, and outcome. Results Sixteen cases were identified. Two patients were siblings (1 newborn and 1 aborted foetus) and close consanguinity was proven in 1 other case. Bowel obstruction was suspected on prenatal ultrasound scan in 6 patients, but HMIA could not be diagnosed specifically. Radiologic, surgical, and pathologic findings were compatible with the standard description of this disease in the literature. All the patients died. Mean survival time was 50 days. Conclusions Thirty years after its first description, HMIA remains a disease without reliable prenatal diagnosis nor effective surgical therapy. An autosomal recessive mode of inheritance is suspected. Until accurate in utero diagnosis becomes available, children with HMIA should be oriented toward palliative care.