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Spinal Cord Infarction in a Patient with Hereditary Spherocytosis: A Case Report and Discussion
Waqar Waheed1, Anjali L Varigonda2, Chris E Holmes3
1Department of Neurological Sciences, University of Vermont College of Medicine, Burlington, VT 05401, USA.
Insights
Spinal cord infarcts (SCIs) can be cryptogenic. This case suggests hereditary spherocytosis, especially post-splenectomy, may increase SCIs due to thrombotic risks.
Area of Science:
- Neurology
- Hematology
- Vascular Medicine
Background:
- Spinal cord infarcts (SCIs) often have unknown causes.
- Hereditary spherocytosis is a red blood cell disorder associated with vascular risks.
Purpose of the Study:
- To report the first case of SCI in a patient with hereditary spherocytosis.
- To explore potential pathophysiological links between hereditary spherocytosis and vascular compromise in the spinal cord.
Main Methods:
- Case report of a 43-year-old woman with hereditary spherocytosis and post-splenectomy status.
- Clinical presentation, MRI confirmation of SCI, and autopsy findings.
- Exclusion of known SCI etiologies through extensive workup.
Main Results:
- The patient presented with myelopathic symptoms and MRI confirmed SCI (C4-T2).
- Despite treatment, the SCI progressed, leading to the patient's death.
- Autopsy confirmed SCI but did not identify a definitive cause, leading to suspicion of hereditary spherocytosis.
Conclusions:
- Hereditary spherocytosis, particularly after splenectomy, may be an underrecognized risk factor for SCIs.
- Post-splenectomy changes (increased platelets, leukocytes, cholesterol) and RBC membrane abnormalities may contribute to thrombotic risk.
Abstract:
The etiology of spinal cord infarcts (SCIs), besides being related to aortic perioperative events, in large subset of SCIs, remains cryptogenic. We present a first case of SCI in a patient with hereditary spherocytosis and discuss the potential pathophysiologic considerations for vascular compromise. A 43-year-old woman with a history of hereditary spherocytosis, post splenectomy status, presented with chest, back, and shoulder pain with subsequent myelopathic picture; SCI extending from C4-T2 was confirmed by MRI. Despite aggressive treatment her stroke progressed leading to her demise. Her autopsy confirmed the SCI and revealed some incidental findings, but the cause of SCI remained unidentified. Exclusion of the known etiologies of SCI by extensive negative workup including autopsy evaluation suggested that SCI in our case was related to her history of hereditary spherocytosis. Both venous and arterial adverse vascular events, at a higher rate, have been associated in patients with hereditary spherocytosis who had their spleens removed compared to nonsplenectomized patients. Postsplenectomy increases in the platelet, red blood cell count, leukocyte count, and cholesterol concentrations are postulated to contribute to increased thrombotic risk. Additional prothrombotic factors include continuous platelet activation and adhesion as well as abnormalities of the red blood cell membrane.
