Myopathy in the York Platelet Syndrome: An Underrecognized Complication
York Platelet Syndrome (YPS) is a calcium channelopathy caused by gain of function in STIM1, a gene which acts as a calcium sensor. It is characterized by platelet abnormalities and muscle weakness. Medical literature emphasizes the hematologic aspects of the cases with few data of the neuromuscular...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Pathology |
| Online Access: | http://dx.doi.org/10.1155/2018/5130143 |
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| author | Joy Roman Michael I. Palmer Cheryl A. Palmer Nicholas E. Johnson Russell J. Butterfield |
| author_facet | Joy Roman Michael I. Palmer Cheryl A. Palmer Nicholas E. Johnson Russell J. Butterfield |
| author_sort | Joy Roman |
| collection | DOAJ |
| description | York Platelet Syndrome (YPS) is a calcium channelopathy caused by gain of function in STIM1, a gene which acts as a calcium sensor. It is characterized by platelet abnormalities and muscle weakness. Medical literature emphasizes the hematologic aspects of the cases with few data of the neuromuscular and neuropathologic evaluation. We present a patient with YPS whose myopathy was the most prominent aspect. She presented around 2 years of age with proximal weakness and easy bruisability. YPS was diagnosed in the infant at 16 months of age at the National Institutes of Health. Muscle biopsy demonstrated a severe chronic myopathy. Rimmed vacuoles and tubular aggregates were noted. Although YPS is rare, the combination of a congenital myopathy with thrombocytopenia may facilitate the diagnosis and enable further insights into the disease. |
| format | Article |
| id | doaj-art-66c830a44f5f4145881a4c8cd4ceaa02 |
| institution | Kabale University |
| issn | 2090-6781 2090-679X |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pathology |
| spelling | doaj-art-66c830a44f5f4145881a4c8cd4ceaa022025-02-03T01:11:12ZengWileyCase Reports in Pathology2090-67812090-679X2018-01-01201810.1155/2018/51301435130143Myopathy in the York Platelet Syndrome: An Underrecognized ComplicationJoy Roman0Michael I. Palmer1Cheryl A. Palmer2Nicholas E. Johnson3Russell J. Butterfield4Department of Pathology, University of Utah, Salt Lake City, UT, USADepartment of Pathology, University of Utah, Salt Lake City, UT, USADepartment of Pathology, University of Utah, Salt Lake City, UT, USADepartment of Pathology, University of Utah, Salt Lake City, UT, USADepartment of Neurology, University of Utah, Salt Lake City, UT, USAYork Platelet Syndrome (YPS) is a calcium channelopathy caused by gain of function in STIM1, a gene which acts as a calcium sensor. It is characterized by platelet abnormalities and muscle weakness. Medical literature emphasizes the hematologic aspects of the cases with few data of the neuromuscular and neuropathologic evaluation. We present a patient with YPS whose myopathy was the most prominent aspect. She presented around 2 years of age with proximal weakness and easy bruisability. YPS was diagnosed in the infant at 16 months of age at the National Institutes of Health. Muscle biopsy demonstrated a severe chronic myopathy. Rimmed vacuoles and tubular aggregates were noted. Although YPS is rare, the combination of a congenital myopathy with thrombocytopenia may facilitate the diagnosis and enable further insights into the disease.http://dx.doi.org/10.1155/2018/5130143 |
| spellingShingle | Joy Roman Michael I. Palmer Cheryl A. Palmer Nicholas E. Johnson Russell J. Butterfield Myopathy in the York Platelet Syndrome: An Underrecognized Complication Case Reports in Pathology |
| title | Myopathy in the York Platelet Syndrome: An Underrecognized Complication |
| title_full | Myopathy in the York Platelet Syndrome: An Underrecognized Complication |
| title_fullStr | Myopathy in the York Platelet Syndrome: An Underrecognized Complication |
| title_full_unstemmed | Myopathy in the York Platelet Syndrome: An Underrecognized Complication |
| title_short | Myopathy in the York Platelet Syndrome: An Underrecognized Complication |
| title_sort | myopathy in the york platelet syndrome an underrecognized complication |
| url | http://dx.doi.org/10.1155/2018/5130143 |
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