The Association of Absent Suspensory Ligaments of the Liver and Marfan Syndrome

By Hussein M. Atta, Donald Schaffner, and Edith Pilzer

Atlanta, Georgia

Gastrointestinal manifestations of collagen diseases are very rare. The authors report on a patient who has features of Mar-fan syndrome with mobile liver caused by the absence of its suspensory ligaments. This patient presented with an acute intestinal obstruction secondary to a congenital band across the distal transverse colon. Recurrent intestinal ob- struction after resection of the band necessitated the perfor- mance of partial colectomy with ileotransverse anastomosis. The patient’s phenotypic features are suggestive but not diagnostic of Marfan syndrome. Nevertheless, isolated skel- etal manifestations of Mat-fan syndrome with documented

FBN7 gene mutation have been reported, suggesting the existence of milder forms of the syndrome not exhibiting the classic diagnostic criteria. The authors postulate that the absence of suspensory ligaments of the liver in this patient could be attributed to the defective connective tissue of Mat-fan syndrome. J Pediatr Surg 34:1575-1577. Copyright o 1999 by W.B. Saunders Company.

INDEX WORDS: Collagen diseases, Marfan syndrome, liver ligaments.

L IVER DISPLACEMENT with interposition of the colon below the right hemidiaphragm is a rare

condition in children.’ It can result from megacolon, abnormal mobility of the colon, paralysis of the dia- phragm, ptosis of the liver, and relaxation of the suspen- sory ligament of the liver.“2 This condition can be mistaken for free air caused by a perforated hollow viscus, subdiaphragmatic abscess, or right diaphragmatic hernia seen on plain radiographs of the abdomen.’ No published reports exist, however, of complete absence of suspensory ligaments of the liver associated with Marfan syndrome. The defective connective tissue in Marfan syndrome can explain the absence of suspensory liga- ments of the liver. We report a case of liver displacement secondary to the absence of its suspensory ligaments in a patient exhibiting features of Marfan syndrome. This patient presented with a massively dilated colon caused by a congenital extrinsic band at the distal transverse colon.

CASE REPORT

A 1%year-old boy was admitted to Scottish Rite Children’s Medical Center with a 2-day history of right upper quadrant abdominal pain, nausea, and bdious vomiting. He had a history of constipation and chronic laxative abuse since he was 3-years old with large-volume bowel movements and increase caliber of stools. An emergency colonoscopic decompression of colon obstruction was performed 5 months earlier. Results of a colonoscopic biopsy of the transverse and right colon at that time documented the presence of normal ganglia. There was no history of abdominal operations. Physical exammation showed a well-developed boy in moderate distress. Vital signs were stable. The patient’s abdomen was distended, not tender, and tympanitic to percussion, and he had hypoactive bowel sounds. Rectal examination findings showed minimal stools with negative hemoccult testing. Plain radiograph of the abdomen showed dilated ascending and hepatic flexure of the colon. A water-soluble contrast enema showed complete

obstruction at the distal end of the transverse colon secondary to an extrinsic lesion. A computed tomographic (CT) scan of the abdomen showed massively dilated loops of the colon occupying the right upper quadrant and displacement of the liver to the left upper quadrant above the spleen (Fig 1). The patient was found to exhibit many features of Marfan syndrome including, tall stature (186 cm), arm span (189 cm) greater than body length, long narrow fingers (arachnodactyly) with hyperextensible joints, and a positive Steinberg thumb sign and Walker-Murdoch wrist sign. Echocardiographic examination findings showed aortic root dilatation with a diameter of 3.1 cm. The normal aortic root diameter based on the age and weight of our patient is 2.4 cm.3 Eye examination showed the patient to be myopic. Colonoscopic decompression allowed for preparation for elective laparotomy. Rectal submucosal biopsy results showed the presence of parasympathetic ganglion cells. At operation, the liver was found to be displaced to the left upper quadrant and was devoid of any ligamentous attachment except for a loose falciform hgament. The liver was fully mobile and could be replaced back to the right upper quadrant. There was a thick fibrous band overlying and obstructing the distal transverse colon near the left colic flexure. The proximal transverse colon and hepatic flexure were massively dilated and measured 15 cm in diameter. No frank or incipient perforation was detected. The stomach and small intestine were not dilated. No Ladd’s band, malrotation, or high riding cecum were identified. The operation was completed by dividing the constrict- ing fibrous band. In the early recovery phase, the patient had slow return of bowel function that responded to the prokinetic agent cisapride and bowel rest.

Seven weeks later the abdominal distension with recurrent green emesis developed. Results of a water-soluble contrast enema showed recurrent extrinsic obstruction at the distal transverse colon. No adhesions or strictures were found during operation. The right colon was markedly dilated but without apparent ischemia. A loop ileostomy

From the Departments of Pediatric Surgery and Gastroenterology, Scottish Rite Children> Medical Centec Atlanta, GA.

Address reprint requests to Hussein M. Atta, MD, Department of Surgery, Faculty of Medicine, EL Minia University, EL Minia, Egypt.

Copyright o 1999 by WB. Saunders Company 0022-3468/99/3410-0036$03,00/O

Journal of Pediatric Surgery, Vol34, No 10 (October), 1999: pp 1575-1577 1575

1576 ATTA, SCHAFFNER, AND PILZER

Fig 1. CT scan of the abdomen shows massively dilated loops of the colon within the right upper quadrant, and displacement of the liver (arrow) to the left upper quadrant with the spleen just below the liver edge.

was created for fecal diversion and to provide a route for mechanical bowel cleansing prior to resection of the dilated segment of the colon. Recurrent displacement of the liver to the left upper quadrant of the abdomen also was noted. Partial colectomy with ileotransverse anasto- mosis was carried out 2 weeks later. Gross examination of the resected colon showed significant dilatation of the distal segment with a diameter measuring 16 cm. Microscopic examination showed nonspecific enteri- tis with hypertrophy of muscularis propria and presence of tawny- brown pigment-laden macrophages in lamina propria suggesting mela- nosis coli. Abundant ganglion cells were present throughout the resected colon. At follow-up 6 months after discharge, the patient had no gastrointestinal complaint and no need for laxatives or prokinetic drugs. The patient was instructed to return for follow-up echocardio- graphic and ophthalmoscopic examinations yearly. Genetic analysis of the FBNI gene is underway.

DISCUSSION

The absent suspensory ligaments of the liver and the massively dilated colon in our patient are responsible for colon malposition under the right hemidiaphragm. The massively dilated right and proximal transverse colon resulted from a congenital extrinsic band across the distal transverse colon. The recurrent obstruction at the same site of the resected fibrous band can be attributed, however, to the motility defects of the chronically obstructed ectatic gut. The presence of ganglia in the colon and rectum and the ability of its smooth muscles to hypertrophy in face of obstruction rule out a primary disorder of the intestinal smooth muscles or the enteric

nervous system.4 The association of absence of suspen- sory ligament of the liver with the skeletal, cardiovascu- lar, and eye abnormalities in our patient points to Marfan syndrome, a systemic connective tissue disorder. Marfan syndrome is characterized by autosomal dominant inheri- tance and variability in clinical expression. Mutations in the FBNl gene cause defective production of fibrillin, a large glycoprotein constituent of microfibrils. Microfi- brils form a major component of elastin-containing tissues.5 The consistent finding of stretched and occasion- ally broken zonular fibers in ectopia lentis, the progres- sive dilatation of the aortic root with fragmentation of the elastic lamellae of the tunica media, the striae atrophicae in skin, and the presence of pulmonary bullae and dural ectasia in patients with Marfan syndrome argue that these microfibirillar fibers are functionally incompetent to resist normal tissue stress and elongate progressively over time.6 The absence of suspensory ligament of the liver and the stretched loose falciform ligament in our patient bears a close resemblance to the stretched zonular fibers in ectopia lentis and the dilatation of the aortic root in patients with Marfan syndrome. Despite the abundance of elastic tissues throughout the gastrointestinal tract, there are no reports of gastrointestinal manifestations in Marfan syndrome and only 1 case of megacolon and few cases of spontaneous rupture in patients with Ehler Danlos syndrome.’ The phenotypic features exhibited in our patient, however, do not meet the required criteria for the diagnosis of Marfan syndrome.* More recently, however, Milewicz et al9 described a 3-generation family with an FBNl gene mutation that results in isolated skeletal features of the Marfan syndrome. No one in the family has cardiovascular or ocular complications charac- teristic of the Marfan syndrome. They attributed this isolated skeletal features to the fact that this mutation produces a nonexpressed or “null” FBNl allele, which results in a milder form of the disease. In contrast, the mutant allele in the majority of individuals with Mat-fan syndrome produces structurally abnormal microfibrils.9

We postulate that the absence of suspensory ligaments of the liver can be attributed to the defective connective tissues in Marfan syndrome. The future widespread availability and use of genetic analysis will help physi- cians identifying patients with gastrointestinal disorders and nondiagnostic phenotypic features of connective tissue diseases.

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