Louisiana Via Research Day Book 2026

Case Studies: Section 1

Case Studies: Section 1

Grace Lee, OMS-III; Nicholas Villar, OMS-III; Zakaria Abd Elmageed, PhD VCOM-Louisiana 35 ACUTE NECROTIZING PANCREATITIS WITH EARLY PSEUDOCYST FORMATION FOLLOWING UNCOMPLICATED LAPAROSCOPIC CHOLECYSTECTOMY: A RARE POSTOPERATIVE COMPLICATION

Grace Lee, OMS-III; Nicholas Villar, OMS-III, Lin Kang, PhD VCOM-Louisiana 36 EXPANDING THE CLINICAL SPECTRUM OF PIEZO2 DUPLICATIONS: A CASE OF GLOBAL MOTOR DELAY, CONGENITAL SENSORY NEUROPATHY, AND MUSCULOSKELETAL ABNORMALITIES.

Context: Pancreatic pseudocysts are uncommon sequelae of acute pancreatitis and are typically associated with chronic inflammation or significant ductal injury. Early pseudocyst formation following an uncomplicated laparoscopic cholecystectomy in the absence of biliary obstruction is exceptionally rare and presents diagnostic and management challenges. Report of Case: A 60-year-old female with no significant past medical history initially presented with acute pancreatitis in the setting of cholelithiasis and cholecystitis and underwent an uncomplicated laparoscopic cholecystectomy. Two weeks postoperatively, she re-presented with severe epigastric pain radiating to the back, nausea, and vomiting. Physical examination revealed epigastric tenderness with stable vital signs. Laboratory evaluation demonstrated elevated serum lipase, leukocytosis, and increased inflammatory markers. Contrast-enhanced CT imaging showed acute necrotizing pancreatitis involving the pancreatic body–tail junction with an early peripancreatic fluid collection consistent with nascent pseudocyst formation, without evidence

of retained stones or biliary obstruction. The patient was managed with aggressive supportive care, including intravenous fluids, antibiotics, bowel rest, analgesia, and antiemetics. Given the necrotizing pancreatitis and early pseudocyst formation, ERCP with pancreatic duct stent placement was performed to reduce ductal pressure. She demonstrated clinical improvement with resolution of leukocytosis and was discharged after approximately one week. Two weeks later, she returned with recurrent abdominal pain and laboratory evidence of recurrent inflammation. Repeat imaging showed a slight reduction in pseudocyst size with persistent inflammatory changes and a stable loculated fluid collection. She was readmitted for intravenous antibiotics and close multidisciplinary monitoring. Due to pseudocyst immaturity and lack of complications warranting intervention, conservative management with interval imaging was continued. Conclusion: Pancreatic pseudocysts occur more commonly in chronic pancreatitis (20– 40%) than in acute pancreatitis (5–16%). Early pseudocyst formation following uncomplicated laparoscopic cholecystectomy is exceedingly

rare, particularly without biliary obstruction. A targeted literature review of peer-reviewed case reports and imaging-based studies was conducted to evaluate similar postoperative presentations. Compared with existing literature, this case highlights an atypical and accelerated course of pseudocyst development after acute postoperative pancreatitis. It emphasizes the importance of maintaining a high index of suspicion for pancreatic complications in patients with persistent or recurrent abdominal pain after cholecystectomy and supports conservative, closely monitored management in clinically stable patients.

Context: PIEZO2 encodes a mechanosensitive ion channel essential for proprioception and somatosensory function. While loss- and gain-of-function variants are known to cause neuromuscular and skeletal disorders, intragenic duplications are rarely described. This case expands the phenotypic spectrum associated with PIEZO2 duplications and underscores their role in neurodevelopmental and musculoskeletal disease. Report of Case: A nine-year-old male presented with global motor delay, congenital hypotonia, distal muscle weakness, and sensory neuropathy characterized by impaired proprioception and diminished deep tendon reflexes. His clinical course was notable for delayed motor milestones, thoracolumbar neuromuscular scoliosis, microcephaly, cryptorchidism, chronic urinary incontinence, and early failure to thrive. Neurologic examination demonstrated marked motor impairment disproportionate to cognitive function. Genetic evaluation via chromosomal microarray identified a duplication at chromosome 18p11.22 involving the PIEZO2 gene. Subsequent exome-based

copy number variant analysis confirmed a homozygous intragenic duplication predicted to disrupt PIEZO2 protein structure and mechanotransduction function. This finding provided a unifying genetic explanation for the patient’s proprioceptive deficits, neuromuscular dysfunction, and progressive musculoskeletal abnormalities. Multidisciplinary management included neurologic, orthopedic, and rehabilitative care, with emphasis on long-term physical therapy and surveillance for disease progression. Conclusion: Pathogenic PIEZO2 variants are associated with a range of mechanosensory disorders. Biallelic loss-of-function mutations feeding difficulties, and scoliosis, while gain of-function mutations have been linked to distal arthrogryposis phenotypes. In contrast, intragenic PIEZO2 duplications disrupting protein function are rarely reported. Methods: A targeted review of peer-reviewed literature was conducted to identify prior reports of PIEZO2-related disorders and typically result in congenital hypotonia, sensory neuropathy, joint contractures,

genotype–phenotype correlations. Compared with existing literature, this case highlights an uncommon structural variant associated with severe motor delay, sensory neuropathy, and musculoskeletal abnormalities, thereby broadening the recognized clinical spectrum of PIEZO2 duplications. Clinicians should consider PIEZO2 copy number variants in patients with unexplained motor delay, proprioceptive impairment, and orthopedic manifestations,

as early diagnosis enables appropriate management and genetic counseling.

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2026 Research Recognition Day