Dr. Ghaniya KC, Dr. Bhanu Vikraman Pillai (Paed Gastro) DrC Jayakumar
A twelve-year-old male child presented with severe abdominal pain for one full day. The patient has a history of recurrent acute pancreatitis, with the first episode occurring at seven years of age, and has had four similar episodes since then. The child has been previously hospitalized for these complaints.
Antenatal, Natal, and Postnatal History: uneventful.
Developmental History normal and immunised as per the national schedule
Family history is non contributory
On examination, the child appearedsuch
• Pale but No icterus, cyanosis, clubbing, lymphadenopathy, or edema
• Vitals: normal
Audiology
• Weight: 45 kg
• Height: 154 cm
• BMI: 18.9 kg/m²
• Systemic Examination:
• Abdominal Examination: Soft with epigastric tenderness; bowel sounds heard.
• Respiratory System: Air entry bilaterally equal; normal vesicular breath sounds.
• Cardiovascular System: S1, S2 present.
Investigations
• Total Count: 11.77 K/uL
• Neutrophils: 69%
• Lymphocytes: 21.9%
• Hemoglobin: 13.7 g/dL
• Platelets: 288 K/uL
• C-reactive Protein (CRP): 3.72 mg/L
• Amylase: 1088 U/L
• Lipase: 3143 U/L
• Fecal Elastase: 694 µg/g
• Ultrasonography (USG) Abdomen:
• Mild fatty liver
• Mildly bulky pancreas with trace fluid
• Endoscopic Retrograde Cholangiopancreatography (ERCP):
• Markedly ectatic, irregular pancreatic duct with side branch ductal dilatation
• Whole Exome Sequencing (WES):
• PRSS1 gene mutation suggestive of hereditary pancreatitis
Diagnosis
Hereditary pancreatitis due to a PRSS1 gene mutation.
Treatment
The child was treated with intravenous fluids and analgesics.
Discussion
Hereditary pancreatitis (HP) is a rare genetic condition that can present as acute, recurrent acute, or chronic pancreatitis. HP is often caused mutations in the PRSS1, CFTR, SPINK1, and CTRC genes. This case involved a PRSS1 gene mutation, the most common genetic defect associated with HP.
HP can initially present as recurrent acute pancreatitis with symptoms such as sudden onset abdominal pain, nausea, and vomiting. The pain is typically postprandial and located in the epigastric region, often radiating to the back.
Management of HP involves:
• Avoidance of environmental triggers
• Surveillance for pancreatic adenocarcinoma
• Medical therapy for endocrine and exocrine insufficiency
• Pain management
• Endoscopic or surgical treatment for complications
Care for HP patients should be individualized, emphasizing early diagnosis and a multidisciplinary approach to treatment.
Conclusion
This case highlights the importance of recognizing hereditary pancreatitis in pediatric patients presenting with recurrent acute pancreatitis. Early genetic testing and a comprehensive treatment strategy are crucial for managing this rare condition.