Louisiana Via Research Day Book 2026

Case Studies: Section 1

Case Studies: Section 1

Kyra Salinkas, OMS-III 1 ; Madeline Keen, OMS-III 1 ; Lance Albin, MD 2 1 VCOM-Louisiana; 2 St. Francis Medical Center, Monroe, Louisiana 82 JEJUNAL ADENOMATOUS POLYP PRESENTING AS INTUSSISCEPTION IN PEUTZ-JEGHERS SYNDROME WITH VHL MUTATION CARRIER STATUS

Brady Levron, OMS IV 1 ; Karson Munas, OMS IV 1 ; Brooke Grieme, OMS IV 1 ; Marvin Mata, MD 2 1 VCOM-Louisiana; 2 Rapides Regional Pediatric Intensive Care Unit 81 EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SCN2A AND KCNT1 MUTATIONS: A CASE REPORT

Background: We report the case of a four month-old girl admitted to the pediatric intensive care unit for multiple seizure episodes refractory to lorazepam and levetiracetam. While hospitalized, she continued to experience seizures accompanied by hypoxic episodes. Initial evaluation revealed anemia, mild transaminitis, and metabolic abnormalities, including low serum amino acids and urine ketonuria with dicarboxylic aciduria. Despite escalation of therapy with lorazepam, levetiracetam, midazolam, and propofol, she required intubation and initiation of phenobarbital. Electroencephalography demonstrated features consistent with epileptic encephalopathy, while an MRI of the brain was unremarkable. Genetic testing identified mutations in SCN2A and KCNT1, confirming the diagnosis of Early Infantile Epileptic Encephalopathy. Following stabilization and improved tolerance of oral feedings, the patient was discharged with plans for ongoing outpatient therapy. This case highlights the diagnostic and therapeutic challenges encountered in the management of Early Infantile Epileptic Encephalopathy associated with SCN2A and KCNT1 mutations.

Background: Peutz-Jeghers Syndrome (PJS) is a rare inherited autosomal dominant condition characterized by hamartomatous polyps in the gastrointestinal (GI) tract and mucocutaneous hyperpigmentation involving the lips, mouth, and hands. These polyps are most commonly located in the jejunum and ileum but can also occur in the stomach and large intestine. Adenomatous polyps are uncommon in PJS and are more typically associated with familial adenomatous polyposis (FAP). Patients with PJS are at an increased risk for malignancies and for intussusception caused by these polyps which can lead to small bowel obstruction (SBO). A 29-year-old female presented to the emergency department (ED) with stabbing left lower back pain that began the previous night and progressively worsened, accompanied by nausea. Her medical history was significant for PJS, von Hippel-Lindau (VHL) mutation carrier status, prior SBO requiring surgical resection, recurrent intussusception, end-stage renal disease requiring hemodialysis, hypertension, and rectal bleeding. The patient first experienced intussusception at 14 years of age and had a recurrent episode one month prior to presentation. One month before admission, the

patient underwent a double-balloon enteroscopy leading to removal of four polyps, complicated by rectal bleeding that subsequently resolved. On physical examination, patient had left lower quadrant abdominal tenderness and left costovertebral angle tenderness. Computed tomography (CT) imaging of the abdomen revealed findings concerning for residual or recurrent intussusception. An exploratory laparotomy was recommended with resection of approximately 20 cm of the jejunum followed by reconstruction with a stapled side-to side antiperistaltic anastomosis. Pathology demonstrated an adenomatous polyp associated with intussusception and ischemic injury. This case highlights a unique presentation of a jejunal adenomatous polyp causing intussusception in a patient with PJS. While polyps found in the small intestine are common in PJS, adenomatous polyps are more typically associated with FAP. Awareness of atypical polyp types is essential, given its potential for malignancy and implications for management and surveillance Additionally, the patient’s known VHL mutation carrier status emphasizes the importance of comprehensive assessment in patients with overlapping tumor syndromes.

95

94

2026 Research Recognition Day