Peutz Jeghers Syndrome

Aruna.T^1*, Pooranima², Ms. Sonya Mercy Anbu³, Ruby Ravichandran⁴

¹Staff Nurse, Maa Kauvery Hospital, Trichy, Tamil Nadu

²Incharge, Maa Kauvery Hospital, Trichy, Tamil Nadu

³Assistant Nursing Superintendent, Maa Kauvery Hospital, Trichy, Tamil Nadu

⁴Senior Deputy Nursing Superintendent, Maa Kauvery Hospital, Trichy, Tamil Nadu

*Correspondence

Introduction

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and an increased risk of certain cancers. It’s named after the Dutch physician Jan Peutz and the American physician Harold Jeghers, who first described the condition.

PJS is an autosomal dominant disorder marked by:

Multiple hamartomatous polyps in the GI tract (especially small intestine).
Mucocutaneous melanotic macules (dark spots on lips, mouth, hands, and feet).
Increased risk of GI and other cancers (e.g., colorectal, breast, ovarian).

The disorder is caused by mutations in the STK11 (LKB1) gene. Management involves surveillance of polyps, cancer screening, and genetic counseling .

Intussusception is defined as a segment of intestine invaginates or telescopes into the adjoining intestinal lumen, causing bowel obstruction, cutting off blood supply, and potentially leading to tissues death. Because most intussusception is unknown. Correlation with adenovirus infection has been noted. It is postulated that swollen Peyer’s patches in the ileum may stimulate intestinal peristalsis to extrude the mass, thus causing an intussusception.

Case Presentation

13 years aged male child, a known patient of peutz Jeghers syndrome, underwent multiple surgeries in the past for recurrent intussusception, now presented with complaints of abdominal pain for 1 day, diffuse, moderate to severe. Nausea was present. No h/o vomiting / loose stools / fever / cough / coryza / burning micturition For above complaints child was initially evaluated on OPD basis, USG abdomen and pelvis showed ileocolocolic intussusception with small bowel intussusception. Hence child was admitted here for further management.

Past history

Know case of peutz jeghers syndrome with multiple GI polyps in stomach, jejunum and colon predominantly jejunum.

2017 – Underwent laparoscopy & polyp removal done

2019 – Underwent diagnostic laparoscopy exteriorization of small bowel and scopy guided polyp removal

Antenatal & birth history: Term / LSCS / Birth weight: 2.300kg / Cried after birth / No NICU admission

Developmental history

Studies 9th standard.
Scholastic performance is said to be normal.

Immunization history: Immunized till date.

Clinical findings

Child was alert, afebrile.
Pulse volume good.

Vitals

Temp	98'F
HR	117 beats/mt
RR	24 breaths/mt
SPO2	98%
BP	110/70mmHg

Anthropometry	Measurement	Centile
Weight	32.20kg	10th - 25th percentile
Height	148.50cm	50th - 75th percentile
BMI	12.82	less than 3rd percentile
Inference: Underweight

Head to toe Examination

Melanotic macules on lips (+).
Pallor (+).

Systemic Examination

P/A: soft, diffuse tenderness.
No guarding.
Scarred abdomen.
Other systemic examinations were normal.
Blood investigations showed normal counts with elevated CRP (84.533 mg/dl). Serum creatinine, sodium & potassium were normal.
Coagulation profile was normal.

USG abdomen: Showed F/S/O ileocolocolic intussusceptions with small bowel intussusceptions.

Diagnosis

Peutz Jeghers Syndrome.
Multiple Intestinal Polyposis/Recurrent Intussusception /Severe Adhesions.

Procedure

Adhesiolysis / Reduction of Intussusception / Ladds Procedure Done On 04.07.2025.
Colonoscopy done on 16.07.2025 under General Anesthesia.
Laparotomy / Adhesiolysis / Jejunojejunal Resection Anastomosis and Lavage Done On 16.07.2025 under General Anesthesia.

Surgical Notes

The patient underwent adhesiolysis, reduction of intussusception, and Ladd’s procedure under general anesthesia. Intraoperatively, multiple intussusceptions (ileocolic, jejunojejunal, and colocolic) with severe adhesions were noted and successfully reduced without bowel gangrene or perforation. Ladd’s bands were released and appendectomy was performed, with multiple polyps palpated from the duodenum to the colon. Colonoscopy revealed multiple sessile and pedunculated polyps from rectum to hepatic flexure, with persistent intussusception. Subsequently, exploratory laparotomy with adhesiolysis, bowel resection, anastomosis, and lavage were performed.

Findings

Severe scar adhesion.
Ileum, colon found to collapse.
Severe adhesions noted between ileum and colon.
Severe interloop adhesions.
Jejunojejunal intussusception 5m distal to the DJ.
No evidence of ileocolic intussusception.
After adhesiolysis.
Jejunojejunal intussusception: long segment about 10cm.
Intussusception was irreducible hence about 60 cm of jejunum removed 5cm distal to the DJ flexion and anastomosis.
Another segment was resected 30cm from ileo colic to 7.5cm distal to ileo colic anastomosis done 5cm distal to DJ – anastomosis – 55cm of jejunoileum – anastomosis ( ileo colic).
Lavage given.
DTs placed.
Wound closed in layers, dressing applied.

Course in the Hospital

A 13-year-old male child, a known case of Peutz–Jeghers syndrome with a history of multiple surgeries for recurrent intussusception, presented with abdominal pain. On admission, he was alert, afebrile, and hemodynamically stable with melanotic macules on the lips, palms, and soles. Ultrasound abdomen revealed ileocolic intussusception with small bowel involvement. The child was kept NPO and started on IV fluids, antibiotics, and supportive care.

Blood investigations showed elevated CRP with otherwise normal parameters. Under pediatric surgical care, adhesiolysis and reduction of intussusception with Ladd’s procedure were performed under general anesthesia. Initially, the postoperative course was stable; however, the child later developed recurrent abdominal pain and abdominal distension with ultrasound confirming recurrent intussusception.

Conservative management was attempted, but due to persistent intussusception, exploratory laparotomy was performed. Intraoperatively, jejunojejunal intussusception with multiple polyps was identified, and two segments of jejunum were resected followed by anastomosis. Postoperatively, the child developed hypotensive shock requiring fluid bolus and adrenaline infusion, after which he stabilized.

During PICU stay, the child received ventilator support, TPN, antibiotics, and blood transfusion for anemia. Histopathology confirmed hamartomatous polyps consistent with Peutz–Jeghers syndrome with focal low-grade dysplasia. Follow-up imaging showed no residual intussusception. Gradually, oral feeds were tolerated, the child remained hemodynamically stable and was shifted to the ward. The child showed steady clinical improvement with resolution of symptoms and was successfully discharged with advice.

Discharge weight: 27.6 kg.

Treatment Given

IV Fluids

Inj. Taxim, Inj. Amikacin, Inj. Piptaz, Tab. Taxim O.

Inj. Emeset

Inj. MVI, Inj. Aminoven, TPN

Inj. Heparin

Inj. Ceftriaxone

Inj. Metrogyl

Inj. Fentanyl, Inj. Midazolam, Inj. Paracetamol

Inj. Adrenaline

Inj. Albumin

Inj. Magnesium sulphate

Total nutrient admixture

T bact ointment

Outcome

The child showed significant clinical improvement following surgical intervention and intensive supportive care. Post-operative complications were effectively managed, and the patient became hemodynamically stable. Oral feeds were gradually introduced and well tolerated, with no evidence of recurrent intussusception on follow-up evaluation. The child recovered well and was successfully discharged in stable condition with advice for regular follow-up.

Advice on discharge

S. No	Generic name / Strength	Frequency			Route of Admin	Relationship With meal	Days
		M	A	N
1	Cefixime (100mg)	1	0	1	Oral	After food	3 days
2	Pedia cold Plus (1 scoop in 80ml water)	1	1	1	Oral	After food	To continue
3	Multivitamin (5ml)	5ml	0	5ml	Oral	After food	1 month
4	Calcium; Phosphorus and Vitamin D3 (5ml)	5ml	0	5ml	Oral	After food	1 month

Nursing management

Monitored vital signs regularly.
Assessed and managed pain with prescribed analgesics.
Maintained IV fluids and monitored intake and output chart.
Maintained nasogastric tube patency and monitored drainage.
Observed for return of bowel sounds and passage of stool/flatus.
Kept the child NPO initially; started feeds gradually as ordered.
Inspected surgical wound for redness, swelling, or discharge.
Maintained aseptic technique during wound care.
Administered antibiotics and other medications as prescribed.
Monitored for complications such as,
Abdominal distension.
Bowel obstruction or ileus.
Infection or sepsis.
Respiratory complications.
Provided comfortable position and encouraged gentle movement.
Documented all observations and nursing care.
Encouraged mobilization and activity.
Educated family on wound care and follow-up.
Encouraged family involvement and bonding.
Provided emotional support and reassurance.
Educated family on regular medication adherence and follow-up with surgeon, pediatrician.

Conclusion

Early diagnosis and timely surgical intervention ensured effective management of recurrent intussusception. Multidisciplinary care and close monitoring helped manage post-operative complications successfully. Histopathology confirmed hamartomatous polyps consistent with Peutz–Jeghers syndrome. The child showed good recovery and was discharged in stable condition with advice for regular follow-up.

Peutz Jeghers Syndrome

Peutz Jeghers Syndrome

Aruna.T1*, Pooranima2, Ms. Sonya Mercy Anbu3, Ruby Ravichandran4

Nightingale Journals

Aruna.T^1*, Pooranima², Ms. Sonya Mercy Anbu³, Ruby Ravichandran⁴