| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
A 49-year-old male with prior history of severe progressive peripheral neuropathies in his extremities was diagnosed at an outside institution with chronic inflammatory demyelinating polyneuropathy. Treatments with steroids, intravenous immunoglobulins, immunosuppressants, and plasma exchange had been ineffective. The patient also underwent trial autologous bone marrow transplantation, but his neuropathies continued to worsen. In addition to splenomegaly, he developed several endocrinopathies. An alternative diagnosis of POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monocloncal plasmaproliferative disorder, and skin changes) was considered. The patient presented to Mayo Clinic for further management. Subsequent investigations supported the POEMS diagnosis.
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Abdulrahman Saadalla, M.B., B.Ch. Resident, Clinical Pathology Mayo Clinic |
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Phuong Nguyen, M.D Consultant, Hematopathology Mayo Clinic Associate Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine |
A 33-year-old man presented with a history of infertility. A blood sample was submitted to the laboratory for molecular analysis of Y chromosome microdeletions. Analysis of Y chromosome markers by polymerase chain reaction (PCR) (Fig. 1) produced the results seen in Fig. 2 for the AZFa, AZFb, and AZFc regions. Subsequent chromosome analysis was performed, and a representative karyogram is shown in Fig. 3.
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Cinthya Zepeda Mendoza, Ph.D. Fellow, Laboratory Genetics and Genomics Mayo Clinic |
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Kandelaria Rumilla, M.D. Consultant, Laboratory Genetics and Genomics Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine |
A 13-year-old previously healthy female presented to her pediatrician with progressive dizziness, pallor, exercise intolerance, fatigue, and pica. Nine months later, she was diagnosed with microcytic anemia. As part of the workup, she underwent a stool hemoccult test, which was positive, necessitating an esophagogastroduodenoscopy (EGD) and colonoscopy to explore the etiology of the anemia. EGD and colonoscopy were grossly unremarkable. Gastric, small-bowel, and colon biopsies revealed slightly increased eosinophils in the gastric mucosa. Fourteen months later, repeat EGD demonstrated nodularity in the gastric body. A photomicrograph of the gastric body is shown.
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Benjamin Van Treeck, M.D. Resident, Anatomic and Clinical Pathology Mayo Clinic |
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Michael Torbenson, M.D. Consultant, Anatomic Pathology Mayo Clinic Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine |
A 32-year-old female presented to OB/GYN at 18 weeks gestation. Mutliple ultrasound anomalies were detected, including postaxial polydactyly, choroid plexus cysts, and omphalocele. Non-invasive prenatal screening (NIPS) via cell-free DNA sequencing was ordered to screen for the presence of common trisomies (13, 18, 21). NIPS revealed a borderline positive result for chromosome 18 (segmentation plot shown below). A prenatal chromosomal microarray was ordered to confirm the screening result, and the results for chromosome 18 are shown:
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Ross Rowsey, Ph.D. Fellow, Clinical Molecular Genetics Mayo Clinic |
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Hutton Kearney, Ph.D Consultant, Laboratory Medicine and Pathology Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine |
