Louisiana Via Research Day Book 2026

Case Studies: Section 1

Case Studies: Section 1

Sabeen Wazir, BS 1 ; Erin Vasquez, MS 1 ; Anne Bea Remorca, BS 1 ; Pawel Michalak, PhD 1 ; Aristoteles Pena-Miches, MD 2 1 VCOM-Louisiana; 2 Department of Neurology, Division of Pediatric Neurology, Christus St. Frances Hospital, Monroe, Louisiana 61 EXPANDING THE PHENOTYPIC SPECTRUM OF TEMPLE SYNDROME (TS14)

Mallory P. Barlow, OMS-III; Viktoriya Salgalova, OMS-III; Savannah Newell, PhD VCOM-Louisiana 62 A COMPLEX CASE OF BILIARY DYSKINESIA: THE LASTING IMPACT OF CHILDHOOD HIRSCHSPRUNG’S DISEASE

Context: Temple (TS14) syndrome is an ultra rare imprinting disorder with an estimated incidence ranging from approximately 1 in 100,000 to 1 in 1,000,000 live births, although the true prevalence is likely underestimated due to phenotypic variability and underdiagnosis. This condition is characterized by growth failure, hypotonia, feeding difficulties, and precocious puberty. Due to its low incidence, it remains clinically poorly understood. Here we report a case of TS14 with unreported features including cerebellar hypoplasia, bilateral varus deformities of the feet, hearing loss, microcephaly, and a choroid plexus cyst. Report of Case: A six-month-old female with Temple Syndrome (TS14) presents to a pediatric neurology clinic with symptoms of persistent poor weight gain, hypotonia, and developmental delay. Chromosomal SNP microarray demonstrated complete homozygosity of chromosome 14 consistent with maternal uniparental isodisomy, and methylation analysis of 14q32 confirmed the diagnosis of TS14. Magnetic Resonance Imaging (MRI) revealed cerebellar hypoplasia. Upon physical exam, it was noted that the

patient had phenotypical microcephaly and bilateral varus foot deformities. Auditory exams revealed hearing loss, and review of the patient’s birth history revealed a choroid plexus cyst. While management of this syndrome is unclear, referrals to speech therapy, endocrinology, and audiology were given at this time. Management of the patient’s feeding difficulties and hypotonia included nutritional optimization and a gastric tube placement for feeding support. We intend to provide long-term surveillance of linear growth, weight trajectory, and pubertal timing, with growth hormone therapy considered for documented deficiency or persistent short stature. Conclusions: We conducted two PubMed literature reviews using the terms “Temple syndrome” AND “Cerebellar hypoplasia” and “Temple Syndrome” AND “varus,” yielding zero results, respectively. Features like cerebellar hypoplasia and bilateral varus foot deformities are unreported in Temple Syndrome patients. Furthermore, microcephaly and hearing loss are poorly reported in TS14, as well. The presence of previously unreported clinical features in this patient, combined with the

extreme rarity of TS14 demonstrates a critical gap in the current understanding and evidence based management strategies for TS14. While management for TS14 is currently limited to symptomatic treatment. We hope that our patient’s case adds these novel symptoms to the current limited body of literature on TS14 and provides more guidance on how to manage the care of TS14 patients with similar symptoms.

Context: Biliary dyskinesia is a functional gallbladder disorder characterized by biliary type pain in the right upper quadrant of the abdomen in the absence of structural pathology. The workup for biliary pain commonly consists of routine imaging and laboratory tests such as abdominal ultrasounds and liver function tests, which are usually within normal limits. This warrants further testing with hepatobiliary iminodiacetic acid (HIDA) scan with cholecystokinin (CCK) stimulation to evaluate the contractility of the gallbladder. HIDA scan is an essential tool in the proper diagnosis and management of patients with biliary dyskinesia. Cholecystectomy remains the treatment of choice for symptomatic biliary dyskinesia. While laparoscopic cholecystectomy is the preferred approach, patients with extensive surgical history can present unique technical challenges and require individualized operative planning. Report of Case: We present a case of biliary dyskinesia in a 66-year-old Caucasian female, whose management was complicated by the patient’s past medical and surgical history. As an infant, the patient was diagnosed with Hirschsprung’s disease and underwent

numerous abdominal surgeries, ultimately resulting in the preservation of approximately four inches of her colon. The patient’s history was further significant for multiple ventral incisional hernia repairs and a hysterectomy with bilateral salpingo-oophorectomy. Because of her extensive surgical history and the high risk of intra-abdominal adhesions, careful consideration was required when deciding the safest and most effective approach to perform her cholecystectomy. A robotic-assisted cholecystectomy was selected to enhance visualization and precision and to facilitate safe adhesiolysis in the setting of extensive intra abdominal adhesions. During the procedure, extensive adhesions were noted throughout the abdominal cavity and involving the gallbladder, confirming the operative complexity initially anticipated. Conclusions: This case highlights the importance of individualized surgical planning in patients with extensive prior abdominal and pelvic surgeries. A history of abdominal and pelvic procedures increases the risk of formation of intra-abdominal adhesions, which can substantially increase operative difficulty

and risk even in procedures that are considered routine. Robotic-assisted cholecystectomy may offer technical advantages compared to laparoscopic in some high-risk patients by facilitating meticulous dissection and improved visualization in complex adhesive disease. This case report demonstrates the need for thorough preoperative assessment and thoughtful selection of surgical approach when managing biliary dyskinesia in patients with complex surgical histories.

75

74

2026 Research Recognition Day