PathWays Case Studies: August 2018

The patient is a 78-year-old woman with a medical history significant for chronic kidney disease stage III, microscopic hematuria, and proteinuria. Investigations show a serum creatinine of 2 mg/dL and a 24-hour urine protein of 3,900 mg/24 hours.

	Kriselle Maris (Kriselle) Lao, M.D. Former Resident, Renal Pathology Mayo Clinic
	Mariam (Priya) Alexander, M.D. Consultant, Pathology Mayo Clinic Associate Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine

A 65-year-old woman was admitted to a hospital in Mason City, Iowa, due to a two-month history of malaise and migraines that had been progressively worsening. She also reported vertigo, light sensitivity and blurred vision, hearing loss, and pulsatile tinnitus, although she did not report any fevers or chills. Her past medical history is notable for hypertension and smoking one pack of cigarettes per day. Her daughter owns hobby chicken coops, and the patient admits that she works with her daughter’s chickens. She was transferred to Mayo Clinic due to bilateral papilledema, elevated intercranial pressure, and elevated cell counts in cerebrospinal fluid (CSF). A Gram stain of CSF (pictured) shows lymphocytic pleocytosis (green arrows) and a cluster of organisms in the center.

	Sarah Jung, Ph.D. Fellow, Clinical Microbiology Mayo Clinic
	Audrey Schuetz, M.D. Senior Associate Consultant, Clinical Mirobiology Mayo Clinic Associate Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine

A 25-year-old female presented with extreme malnourishment (BMI=9). Her nutrition has been suffering due to severe gastroparesis along with cyclic vomiting and food intolerance. Her symptoms began when she was approximately 19 years old and multiple gastrointestinal assessments have failed to result in a diagnosis. Analysis of urine organic acids revealed elevated levels of uracil and thymidine (figure 1), which were confirmed independently by dedicated purine/pyrimidine analysis. Molecular analysis revealed homozygous pathogenic mutations in the TYMP gene.

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	Adam Guenzel, Ph.D. Fellow, Clinical Biochemical Genetics Mayo Clinic
	Silvia Tortorelli, M.D., Ph.D. Consultant, Laboratory Genetics/Genomics Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine

A 51-year-old male with no significant past medical history underwent screening colonoscopy. A 0.5 x 0.4 x 0.3 cm transverse colon polyp was seen and excised during colonoscopy. A biopsy was performed.

	Kadijeh (Narges) Jahanseir, M.D. Resident, Anatomic Pathology Mayo Clinic
	Tsung-Teh Wu, M.D., Ph.D. Consultant, Anatomic Pathology Mayo Clinic Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine