Deborah S. Loeff

Surgical and genetic aspects of persistent müllerian duct syndrome

Persistent müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, cervix, and fallopian tubes in an otherwise normally differentiated 46.XY male. During embryogenesis, regression of müllerian structures in normal males is mediated by antimüllerian hormone (AMH), also called müllerian inhibiting substance (MIS), produced by fetal Sertolis cells. PMDS has been attributed to deficient AMH activity or to abnormalities in the AMH receptor. The authors report on two patients with PMDS in whom the abnormalities were discovered during surgery for inguinal hernia and cryptorchidism. During the initial operations in each case, testicular biopsies were obtained, and the gonads and müllerian elements were replaced in the pelvis. A second operative procedure, performed several months later, included proximal salpingectomies with dissection of the vasa deferentia on pedicles of myometrium. This permitted excision of the vestigial uterine corpus, leaving a tiny remnant of cervix with the vasa deferentia. The testes were further mobilized so that bilateral orchidopexies could be completed. In the first case, a molecular abnormality was present at position 377 of the first exon of the AMH gene. Thymine replaced cytosine, which altered a CGG arginine codon to a TGG tryptophan codon, rendering the AMH molecule unstable. The molecular abnormality in the first case differs from the first abnormality in AMH reported by Knebelmann et al, thus indicating heterogeneity in this condition. The molecular basis for deficient AMH activity in the second patient has not yet been defined. No molecular abnormalities were found in the exons of this patients AMH gene.

A variant of the split notochord syndrome

Split notochord syndrome has been described in several previous case reports; however, we recently treated a patient with a previously undescribed variant of this syndrome. A 2.5-g baby girl was admitted to the neonatal intensive care unit with a skin-covered mass on the back, and a portion of intestine, with meconium being passed, attached to it. The legs were equino varus, and the anus was anteriorly displaced. Radiographs were consistent with a lumbar split notochord, and the patient was taken to the operating room for closure. During surgery, the skin-covered mass was opened and found to contain loops of small intestine leading to an intussuscepted cecum and an open ended duplication of the cecum attached to the end of the spinal cord. The small intestinal loops exited the abdomen from a peritoneal-lined opening to the back. The loops were returned to the abdomen after releasing the duplication from the cord. The peritoneal connection was closed with a purse string suture, and the abdomen was opened. The duplication of the cecum was partially amputated and the rest was used to create a chimney-type stoma. The intraabdominal exploration was significant for nonrotation as well as a normal rectum. The postoperative course was uneventful. This case is unique because most cases of split notochord only involve a fistula to the rectum. In this case, a major part of the small bowel had herniated. Moreover, there was an open duplication similar to that found in extrophy. In approaching such a situation, it is also important to have the neurosurgeon available to provide adequate closure of the back similar to a myelomeningocele.

Cyclic neutropenia with colonic perforation and nonhealing colocutaneous fistula

Cyclic neutropenia is an hereditary disorder of white blood cells, characterized by profound neutropenic episodes approximately every three weeks. Septic complications are usually limited to cutaneous and oropharyngeal infections. A 4-year-old boy with known cyclic neutropenia was in shock with neutropenia, clostridial septicemia, and right lower quadrant peritonitis when he was admitted. At the time of laparotomy, inflammation of the cecum, with no gross perforation, was found; no resection or appendectomy was done. He subsequently developed a right lower quadrant abscess that was drained, resulting in a colocutaneous fistula. For the next 8 months his fistula persisted, with intermittent episodes of fever, increased fistula output, and abdominal pain during his neutropenic periods. Standard nonoperative approaches to healing the fistula failed (ie, elemental feeds, total parenteral nutrition, irrigations, antibiotics, and drains). Attempts to medically abolish his neutropenic episodes using lithium, gammaglobulin, and steroids also failed. Ultimately, he underwent an ileocecal resection with primary anastamosis; the operation was done immediately following a neutropenic episode, in order to allow adequate healing of his anastamosis before his next period of neutropenia. Postoperative course was satisfactory, and he remains well after 8 months follow-up. This case, and several similar previously reported cases, illustrate that cyclic neutropenia may present with serious surgical complications. They also underlines the important role that neutrophils play in the healing of enteric fistulae.