Dr.Subbulakshmi P S, Dr.Bhanu Vikraman pillai Dr.Rekha, Dr.Anupa Thomas, Dr.Jayakumar C
AIMS, Kochi
Eleven years old , female child who was asymptomatic previously, now presented with diffuse and vague abdominal pain intermittently x 2 years.
No history of vomiting, loose stools, blood in stools, burning micturition, weight loss noted.
She is the 2nd child of non-consangious marriage, with the elder sibling being a normal male of 14 years age.
The child was apparently normal till 9 years of age.
Growth parameters were within normal limit. Immunizations were up-to date according to NIS. No family h/o TB, immunodeficiencies. H/O hereditary polyposis+ in the father.
On examination, there were multiple naevi in the child with discoloration of the oral mucosa. Multiple hyper-pigmented macules were noted over the right fore-head and buccal mucosa.The vital parameters were within normal limits. Systemic examination was unremarkable.
Discoloration of oral mucosa
In view of the positive familial set-up with oral discoloration with multiple naevi and abdominal pain, Peutz- jegher syndrome was stongly suspected.
Differentila Diagnosis:
1. Familial adenomatous polyposis (FAP)
2. Juvenile polyposis syndrome
3. Cronkhite-Canada syndrome
4. Cowden syndrome
5. Carney complex
Initial Labs:
Tc: 8,900, N: 53/L: 38
Hb: 12.3
Platelets: 280
CRP: Negative
Stool routine: Normal
Stool Occult blood: Negative
ESR: 25
USG: Abdomen: Features of Acute intussusception
CECT-Enterogram: S/O Small bowel intussusception
Upper GI Endoscopy: Multiple Scattered polyps throughout stomach
Based up on the investigations
Laprotomy was done Jejunojejunal intussusception and enterotomy and resection of the polypoidal masses done
Colonoscopy : Normal
The child is managed symptomatically and kept on close follow-up. She was also advised to undergo genetic testing.
DISCUSSION:
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized the development of noncancerous growths called hamartomatous polyps in the digestive tract and pigmented spots on the skin. These pigmented spots are most commonly found around the mouth, eyes, and hands.
Key features of Peutz-Jeghers syndrome include:
1. Gastrointestinal Polyps: These polyps can occur throughout the gastrointestinal tract, from the stomach to the colon. They are usually benign (noncancerous) but can cause complications such as intestinal obstruction or bleeding.
2. Pigmented Skin Lesions: These are dark blue or brown spots on the lips, inside the mouth, around the eyes, and on the hands and feet. They typically appear in childhood and may fade in adulthood.
3. Increased Cancer Risk: Individuals with PJS have an increased risk of developing various types of cancer, especially in the digestive tract (e.g., colon, pancreas, stomach) and other organs.
4. Genetic Cause: Peutz-Jeghers syndrome is caused mutations in the STK11 gene (also known as LKB1), which is involved in regulating cell growth and division.
5. Inheritance: PJS is inherited in an autosomal dominant pattern, meaning a person only needs to inherit one mutated copy of the STK11 gene from either parent to develop the syndrome.
Management of Peutz-Jeghers syndrome involves regular surveillance for polyps and cancers, typically through endoscopic examinations and other imaging techniques. Treatment may involve the removal of polyps to prevent complications and reduce cancer risk. Genetic counseling is important for individuals with PJS and their families to understand the inheritance pattern and risk to future generations.
TAKE-HOME MESSAGE:
Peutz-Jeghers syndrome is a complex genetic disorder characterized gastrointestinal polyps and distinctive pigmented skin lesions. While noncancerous polyps are a hallmark, individuals face an increased risk of various cancers, necessitating lifelong surveillance and management. Genetic counseling plays a crucial role in understanding its inheritance pattern and potential implications for affected individuals and their families. Early detection and intervention are essential in mitigating complications and improving outcomes for those with this rare syndrome.