PEUTZ syndrome

 

Introduction

Peutz-Jeghers syndrome, colloquially referred to as "Melanin Spot-Multiple Gastrointestinal Polyps Syndrome" in China, was initially described by the Dutch physician Jan Peutz in 1921. The syndrome was later dubbed "Peutz-Jeghers" in 1949 after British researchers Jeghers and colleagues compiled a collection of 22 cases. Though relatively rare, the condition has garnered increasing attention, as evidenced by sporadic case reports[^1][^2] and approximately 100 reported cases within China. Nevertheless, the coverage of this disorder in academic textbooks remains scant[^3][^4].

Classified as a congenital disorder, Peutz-Jeghers syndrome is thought to arise from a developmental anomaly and belongs to the family of hamartomas. It frequently manifests with familial patterns and is characterized by distinctive dark pigmentation on the lips and fingers, as well as the presence of multiple gastrointestinal polyps. Due to its severe complications and the challenges associated with achieving a complete cure, the condition often necessitates multiple surgical interventions and poses long-term health concerns. Given its potential for delayed onset and a variety of symptomatic presentations, clinical attention to its management is of paramount importance.

In our medical facility, we managed a patient who underwent three surgical interventions over a span of 14 years. The first two surgeries were necessitated by small intestinal polyps that led to complications such as intestinal entrapment and necrosis. The third surgical procedure was an emergency intervention to alleviate a blockage in both the biliary and digestive tracts. This obstruction was caused by sizable polyps located in the descending portion of the duodenum and required immediate diversionary tactics to preserve the patient's life.

Medical History and Presentation

The patient, a 38-year-old healthcare worker, was initially admitted to our hospital on September 25, 1979, under inpatient number 3702. His medical journey began at the age of 5 when he contracted measles. Following his recovery, his parents observed persistent brown-black pigmentation on his lips and toes, which gradually intensified in both size and hue over the years. The patient also frequently experienced episodes of intermittent abdominal pain, diarrhea, and rectal bleeding, which were generally mitigated through anti-inflammatory and antiparasitic treatments.

In 1965, at the age of 24, the patient underwent his first surgical procedure at our facility for an intestinal obstruction. During the operation, multiple small intestinal polyps were discovered, along with complications of jejuno-jejunal intussusception and intestinal necrosis. Consequently, 100 cm of the jejunum was resected, and an additional ten polyps, each larger than the tip of a finger, were excised from three different locations in the small intestine. Despite these measures, numerous smaller polyps remained in situ. Postoperatively, the patient made an uneventful recovery and was duly discharged. Intermittent abdominal pain persisted but often resolved without intervention.

In 1968, a recurrence of intestinal intussusception led to a second surgical procedure. A further 60 cm of the ileum was resected, revealing an increased number and size of small intestinal polyps compared to the first operation. No palpable polyps were found in the stomach or colon at that time. Over the ensuing decade, the patient experienced three episodes of gastrointestinal bleeding, each accompanied by intermittent melena, which responded to conventional hemostatic treatments. Despite occasional bouts of abdominal pain and diarrhea, the patient reported leading a generally normal life and work routine.

In 1978, a barium meal X-ray indicated the presence of numerous polyps throughout the gastrointestinal tract. Recently, the patient began experiencing progressive jaundice, accompanied by symptoms of dyspepsia, reduced appetite, and general fatigue. Liver function tests conducted at another facility revealed a jaundice index of 25 units, positive urine bilirubin, ALT levels at 57.5 units, and alkaline phosphatase at 50 units. Four days prior to the most recent hospital admission, the patient suffered from episodes of acute upper abdominal pain, frequent vomiting, and epigastric fullness, leading to his readmission for suspected high-level intestinal obstruction.

Physical Examination and Laboratory Findings

Physical Examination:

The patient presented with dehydration, emaciation, and jaundice. Upon abdominal palpation, a water splash sign was detected, indicative of gastric stasis. Tenderness and fullness were noted in the epigastrium, specifically to the right of the xiphoid process. A relatively fixed, fleshy mass was palpable, along with hepatomegaly—liver extended 1.5 cm below the costal margin, exhibiting a blunt edge and medium texture. The lower abdomen was soft to the touch, revealing multiple movable, fleshy nodules of varying sizes. Bowel sounds were hyperactive, and no signs of ascites were found.

Dermatological Findings:

Brown-black, non-elevated, non-blanching round and oval spots were scattered around the mouth, gums, cheek mucosa, as well as the fingers and toes. In total, approximately ten such spots were observed. Additionally, a general deepening of pigmentation resembling cyanosis was noted on the lips and gums.

Laboratory Investigations:

Serum bilirubin levels were at 2.2 mg%, and a direct biphasic reaction was observed in the Vandenberg test. Hemoglobin levels measured at 10.5 gm, and the red blood cell count was 3.75 million/mm*.

Preoperative Diagnosis:

The patient was diagnosed with Peutz-Jeghers syndrome, complicated by high-level intestinal obstruction and biliary obstruction.

Surgical Interventions and Pathological Findings

Third Laparotomy

Upon admission, a third laparotomy revealed a substantially swollen descending part of the duodenum, filled with a sizeable mass. The common bile duct was notably thickened, measuring up to 3 cm in diameter. Both the liver and spleen displayed slight enlargement, while the pancreas appeared normal. Multiple fleshy nodules were palpable throughout the entire gastrointestinal tract, from the stomach to the colon. Several superficial intussusceptions were observed in the small intestine, all of which self-reverted. There was minor intestinal adhesion and numerous repair and anastomotic scars on the small intestine, with no signs of stenosis. Peritoneal yellowing was evident, but no ascites were present.

Upon incising the duodenum, a massive polyp centered around the papilla, measuring 6x5x4 cm, was discovered. This polyp, complete with ulceration, filled the intestinal lumen and had a broad base. An exploratory incision of the common bile duct revealed no stones but confirmed blockage at its duodenal outlet. A small-sized biliary dilator was successfully employed to clear the obstruction, effectively relieving obstructions in both the biliary and gastrointestinal tracts. Given the severity of the patient's condition and the suspected malignant transformation, a decision was made to perform a diversionary procedure. A biopsy was taken for pathological evaluation, and the duodenum was repaired. Anastomoses were created between the gallbladder and proximal jejunum, as well as between the stomach and distal jejunum. A "T-tube" was placed for external bile drainage, and intra-abdominal drainage was established. Other polyps causing no obstruction were left untreated.

Pathological Report

The biopsy confirmed the polyp to be benign, consistent with Peutz-Jeghers syndrome (Pathology No. 5155).

Postoperative Course

The patient made a fair postoperative recovery, with timely passage of flatus, resumption of oral intake, and rapid resolution of jaundice. On the 11th postoperative day, external duodenal atrophy and pancreatic fluid digestion were noted, initially managed by drainage and later by occlusion. The "T-tube" was removed on the 26th postoperative day, following which the external fistula healed spontaneously. After a 34-day hospital stay, the patient was discharged in good condition, with a jaundice index of 8 units and normal digestive function.

Family History

Upon retrospective examination of the patient's familial medical history, no similar conditions were reported in either parent. The patient has four children, one of whom—a 10-year-old boy—exhibited dark spots on his lips, hands, and feet at age 5, mirroring the patient's symptoms. The boy also has a history of occasional abdominal pain and diarrhea, all of which are indicative of Peutz-Jeghers syndrome, albeit without complications to date.

Discussion

Pathological Characteristics:

The cornerstone of this disease is the presence of multiple gastrointestinal polyps, which tend to grow, proliferate, and enlarge as the patient ages. Complications and subsequent symptoms arise primarily from these polyps, manifesting as inflammation, ulceration, hemorrhage, obstruction, and even malignant transformation. These polyps can induce a range of gastrointestinal issues including diarrhea, intestinal colic, melena, chronic anemia, intestinal obstruction, and necrosis. While biliary obstruction is rare, it remains a noteworthy complication.

Clinical Manifestations:

The polyps predominantly localize in the small intestine—most abundantly in the jejunum and least in the duodenum. Over the 14-year observation period involving three surgical interventions, we noted an evolution from localized small-intestine polyps to a more generalized distribution throughout the gastrointestinal tract. This highlights the progressive nature of the disease, characterized by subsequent growth and enlargement of these polyps.

Dermatological and Familial Aspects:

The disease also features specific melanin spots commonly observed around the lips, buccal mucosa, and extremities. The presence of these spots does not correlate with the severity of gastrointestinal issues but serves as a hallmark of the syndrome. Familial factors seem to be involved, as evidenced by the presentation of similar symptoms in one of the patient's children.

Diagnostic Measures:

The diagnosis leans heavily on the unique distribution of melanin spots. Barium contrast studies are instrumental in outlining the distribution, size, and morphology of the polyps. Although the symptoms can be non-specific and sometimes even absent—especially in children and during dormant periods—it's crucial to have early diagnostic procedures to prevent complications.

Surgical Considerations:

In this particular case, the primary lesion was at the duodenal papilla, making resection challenging. Due to the patient's severe condition, the primary surgical intervention was diversionary, aiming to restore continuity of the gastrointestinal and biliary tracts. Although we managed to control postoperative duodenal atrophy through drainage, a large number of polyps in various segments were left untreated, posing a risk for future complications.

Lessons Learned:

When resecting the intestine, careful planning is needed to preserve as much of the organ as possible, to maintain the patient’s digestive and absorptive functions. In this case, two prior resections left only 150 cm of small intestine, raising concerns about long-term functionality. Fortunately, no significant issues have arisen, offering an invaluable surgical lesson.

Long-term Prognosis:

With appropriate treatment, long-term survival is achievable, albeit often requiring multiple surgeries. The patient in this case study maintained a normal life and work routine over 14 years, despite undergoing three surgical interventions.

Summary

This paper offers a comprehensive overview of Peutz-Jeghers syndrome, delving into its historical context, pathological underpinnings, and clinical manifestations. Central to our discussion is a 14-year longitudinal case study involving a patient who underwent three major surgical interventions. This case provides valuable insights into not only the clinical course but also the familial aspects of this disease.

We note that complications arising from the syndrome often prompt medical consultation, commonly in young adulthood. Peutz-Jeghers syndrome is a congenital, incurable condition that necessitates multiple surgeries over the patient's lifetime. Despite this surgical burden, effective management can yield a relatively normal lifespan.

The paper aims to elucidate the pathological characteristics, diagnostic strategies, treatment modalities, and long-term prognosis of this complex syndrome. Our hope is that this work contributes to the broader understanding of Peutz-Jeghers syndrome, paving the way for more effective diagnostic and therapeutic strategies in the future.

References

1. Zhong, Huawei. "Melanin spots ~ gastrointestinal multiple polyps syndrome." Chinese Journal of Surgery, vol. 6: 104, 1958.

2. Chen, et al. "Recurrent polyps syndrome of gastrointestinal tract ～ melanin spots in the periphery of oral lip, buccal membrane, and fingers and toes." Chinese Journal of Surgery, vol. 13:244, 1965.

3. Huang, Jiasi. Surgery. People's Health Press, p. 644, 1973.

4. Huang, Jiasi & Wu, Jieping. Surgery (Volume 1). People's Health Press, p. 692, 1979.

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Contributors:
Li Mingjie, Department of Surgery, Nanling County Hospital

Originally published in Journal of Bengbu Medical College, 1982; 7(3): 214.