Myopathy in the York Platelet Syndrome: An Underrecognized Complication
Joint Authors
Palmer, Cheryl Ann
Roman, Joy
Palmer, Michael I.
Johnson, Nicholas E.
Butterfield, Russell J.
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-08-12
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Roman, Joy& Palmer, Michael I.& Palmer, Cheryl Ann& Johnson, Nicholas E.& Butterfield, Russell J.. 2018. Myopathy in the York Platelet Syndrome: An Underrecognized Complication. Case Reports in Pathology،Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1148769
Modern Language Association (MLA)
Roman, Joy…[et al.]. Myopathy in the York Platelet Syndrome: An Underrecognized Complication. Case Reports in Pathology No. 2018 (2018), pp.1-3.
https://search.emarefa.net/detail/BIM-1148769
American Medical Association (AMA)
Roman, Joy& Palmer, Michael I.& Palmer, Cheryl Ann& Johnson, Nicholas E.& Butterfield, Russell J.. Myopathy in the York Platelet Syndrome: An Underrecognized Complication. Case Reports in Pathology. 2018. Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1148769
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148769