Louisiana Via Research Day Book 2026

Case Studies: Section 2

Case Studies: Section 2

Aasim Akthar Ahmed, MD 1 ; Ram Kumar, MD 1 ; Sumanth Marupuru, MD 1 ; Kennedi Bell, OMS-III 2 ; Edward Cornell Pierce, MD 1 ; Pamraj Sharma, MD 1 1 St. Francis Medical Center, Department of Internal Medicine, Monroe, Louisiana; 2 VCOM-Louisiana 92 BEYOND THE THUNDERCLAP: A DIAGNOSTIC CHALLENGE OF REVERSIBLE CEREBRAL VASOCONSTRICTIVE SYNDROME WITH VERTEBRAL ARTERY DISSECTION

Binod Mehta, MD; Shekhar Gurung, MD; Nisheem Pokharel, MD; Coy Gammage, MD St. Francis Medical Center, Monroe, Lousiana 93 SIX METACHRONOUS PRIMARY MALIGNANCIES IN A WOMAN WITH DUAL GERMLINE BRCA1/BRCA2 PATHOGENIC VARIANTS

Introduction: Reversible cerebral vasoconstriction syndrome (RCVS)

pathology. Further evaluation with CTA head/ neck however did reveal irregular multifocal narrowing involving both the anterior and posterior circulations, concerning for RCVS. The patient was started on treatment with verapamil and magnesium supplementation, alongside multimodal pain regimen including hydromorphone, acetaminophen and ketorolac. Further infectious and autoimmune work up was unrevealing. Due to persistence of her symptoms, the patient was also placed on gabapentin and amitriptyline for added headache management. MRA head/neck was repeated to assess for any interval change. Although MRA was unremarkable, now with resolution of the irregular narrowing, MRA neck showed bilateral short segment vertebral artery dissections. Interestingly, the patient’s headache resolved completely following a one-time treatment with IV Ativan for a panic attack, raising suspicion for significant psychosocial stressors contributing to the severity of her symptoms. She was placed on dual antiplatelet therapy with plans for repeat vascular imaging in six months. She was also counseled to avoid caffeine, nicotine and other vasoconstrictive triggers.

Discussion: This case highlights the diagnostic challenge of RCVS when

Introduction: Multiple primary tumors (MPTs) are increasingly recognized with advances in cancer detection and survivorship; however, the occurrence of more than four distinct malignancies in one patient remains exceedingly rare. Double heterozygosity for pathogenic BRCA1 and BRCA2 variants is uncommon and may broaden the cancer spectrum beyond the typical breast and ovarian predisposition. We report a woman with confirmed dual BRCA1/ BRCA2 pathogenic variants who developed six metachronous primary malignancies over 26 years. Report of Case: A 72-year-old woman with germline pathogenic variants in BRCA1 and BRCA2 and an 85-pack-year smoking history had a strong family history of malignancies, including breast, ovarian, colon, prostate, leukemia, and lung cancers in first-degree relatives. Her first malignancy, a left breast carcinoma diagnosed in 1999, was treated with mastectomy and adjuvant chemotherapy. Nineteen years later, she developed Paget disease of the right breast with underlying triple-negative invasive carcinoma, managed surgically with adjuvant therapy. In 2019, she

was diagnosed with right lung adenocarcinoma, treated with systemic chemotherapy. Later that year, she presented with dysphagia, and biopsy revealed an esophageal squamous cell carcinoma harboring the same heterozygous BRCA1/BRCA2 germline mutations. Concurrently, an incidental gastrointestinal stromal tumor (GIST) was identified and resected. In 2023, she developed a separate left lung adenocarcinoma, histologically distinct from the prior tumor. At each episode, pathology and imaging confirmed independent primary malignancies rather than metastases. She tolerated treatment well and remains clinically stable 26 years after her initial diagnosis under regular oncologic surveillance. Conclusion: Double BRCA1/BRCA2 heterozygosity is rare, and its clinical phenotype remains incompletely defined. While her breast cancers align with BRCA-associated risks and the esophageal carcinoma shared the same germline variants, her heavy tobacco exposure likely contributed to both lung primaries, and the GIST appears sporadic. This case underscores how high-penetrance germline mutations, combined with environmental

carcinogens, can produce extreme multi-primary cancer phenotypes. Lifelong multidisciplinary surveillance and family genetic counseling are crucial for early detection and risk reduction.

encompasses a spectrum of disorders characterized by transient, multifocal constriction of the cerebral arteries. Since its presentation overlaps with other life threatening causes of headache, such as subarachnoid hemorrhage and vasculitis, RCVS poses a significant diagnostic challenge. Here, we present a rare case of RCVS in the setting of a vertebral artery dissection. Report of Case: A 25-year-old female with a history of hypertension, migraines, preeclampsia, and recent head trauma presented with a persistent headache for one week, described as a generalized ache with intermittent sharp pain. She also reported associated neck tenderness, nausea, and vomiting. Her initial vital signs and laboratory studies were within normal limits, and physical examination revealed no focal neurological deficits. Initial CT head was unremarkable, as was further evaluation with MRI brain. The patient subsequently underwent lumbar puncture, which ruled out any ongoing CNS

associated with vertebral artery dissection. Comprehensive vascular imaging is essential in patients with thunderclap headaches to differentiate this from other cerebrovascular conditions. Early recognition with targeted management, including calcium channel blockers, pain control and antiplatelet therapy, can help improve patient outcomes.

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