Intracranial extramedullary hematopoiesis in a patient with beta-thalassemia presenting with head trauma
- Department of Neurological Surgery, Icahn School of Medicine at Mount Sinai, New York City, New York, United States.
- Department of Radiology, Icahn School of Medicine at Mount Sinai, New York City, New York, United States.
- Department of Neurosurgery, Elmhurst Hospital Center, New York City, New York, United States.
Ashia M. Hackett, Departments of Neurological Surgery, Icahn School of Medicine at Mount Sinai, New York City, New York, United States.
DOI:10.25259/SNI_730_2022Copyright: © 2022 Surgical Neurology International This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: Noah M. Nichols1, Ashia M. Hackett1, Alejandro Carrasquilla1, Paul Solodnik2, Hang Byun3, Salazar Jones1, Zachary L. Hickman1. Intracranial extramedullary hematopoiesis in a patient with beta-thalassemia presenting with head trauma. 18-Nov-2022;13:542
How to cite this URL: Noah M. Nichols1, Ashia M. Hackett1, Alejandro Carrasquilla1, Paul Solodnik2, Hang Byun3, Salazar Jones1, Zachary L. Hickman1. Intracranial extramedullary hematopoiesis in a patient with beta-thalassemia presenting with head trauma. 18-Nov-2022;13:542. Available from: https://surgicalneurologyint.com/surgicalint-articles/12004/
Background: Beta-thalassemia is an inherited hemoglobinopathy, whereby reduced or absent expression of beta-globin genes causes impaired erythropoiesis. Extramedullary hematopoiesis (EMH) occurs in 1% of all patients with beta-thalassemia major receiving regular transfusions and is exceedingly rare intracranially.
Case Description: We report a case of a male in his 20s with beta thalassemia who presented with head trauma found to have intracranial EMH mimicking multiple extra-axial hematomas. Making the correct diagnosis was critical in avoiding prolonged neuromonitoring and unnecessary interventions.
Conclusion: Intracranial extramedullary hematopoietic pseudotumor is an exceedingly rare entity and seldom appears in a neurosurgeon’s differential diagnosis. This case illustrates how this condition can easily mimic an acute intracranial hemorrhage in a patient with beta-thalassemia who presents with head trauma. We review the topic to further inform clinicians who may encounter this condition in their practice.
Keywords: Case report, Epidural hematoma, Extramedullary hematopoiesis, Thalassemia, Traumatic brain injury
Beta-thalassemia is an inherited hemoglobinopathy characterized by reduced expression of beta-globin genes causing impaired erythropoiesis, peripheral hemolysis, and chronic anemia. Hematopoiesis normally occurs in the marrow of the medullary bones; however, extramedullary hematopoiesis (EMH) is a compensatory response observed in patients with chronic anemia. EMH occurs in 1% of all patients with beta-thalassemia major receiving regular transfusions.[
A male in his early 20s with a history of beta-thalassemia major requiring routine blood transfusions presented to a community hospital following an unhelmeted electric scooter accident with a head strike, without loss of consciousness. The patient had stable vital signs with a Glasgow Coma Score of 15 and no focal deficits on neurologic exam. Laboratory studies were notable for serum sodium 132 mmol/L, hemoglobin 7.5 g/dL, and INR 1.3. Computed tomography (CT) of the head demonstrated bifrontal extra-axial lentiform hyperdense mass lesions and an interhemispheric hyperdense lesion. Our differential diagnoses included convexity epidural hematomas and a falcine subdural hematoma [
A repeat head CT scan was obtained 4 h after his initial scan which was interpreted by radiology as a mild interval increase in the size of both convexity extra-axial hyperdense lesions. The right convexity lesion was interpreted to have expanded from 1.5 × 0.7 cm to 1.9 × 0.9 cm in the axial plane, while the left convexity lesion increased from 3.7 × 1.5 cm to 3.9 × 1.8 cm in the axial plane. Given this possible increase in size, a third head CT was obtained approximately 4 h later, which demonstrated stability of the extra-axial collections [
Given the patient’s good neurological examination compared to the size and extent of the extra-axial lesions, and lack of associated skull fractures and other stigmata of head trauma on radiographic imaging, alternative diagnoses were considered after discussion with a senior neuroradiologist. On MRI, the brain parenchyma was without signs of traumatic brain injury such as cerebral edema, contusions, microscopic hemorrhages, or signs of brain compression or midline shift. The marrow signal on susceptibility weighted imaging was consistent with iron deposition. The extra-axial lesions were noted to be located within the dura and demonstrated minimal enhancement on post contrast imaging, distinguishing them from multiple meningiomas with calcification [
Selected MRI sequences of a beta-thalassemia patient with extramedullary hematopoiesis. (a) Axial T1-weighted image with contrast. (b) Axial T2-weighted image. (c) Axial susceptibility weighted imaging. (d) Axial apparent diffusion coefficient maps. (e) Coronal T1-weighted image with contrast.
Emergency management of space-occupying and extra-axial hematomas is a critical and necessary skill for all neurosurgeons. Our case of intracranial EMH highlights the importance of clinical correlation and entertaining a broad differential when the presentation is uncommon or the patient’s history is suggestive of an alternative etiology. The initial presumed diagnosis for this patient with beta-thalassemia and head trauma was of traumatic extra-axial hematomas. The patient’s neurological examination was good and additional radiographic stigmata of such a significant head injury were absent. This, combined with the patient’s medical history of beta-thalassemia, prompted further investigation for an alternative diagnosis.
The patient’s clinical presentation and diagnostic MRI were highly suggestive of the pseudotumors secondary to intracranial EMH. This altered the patient’s management and was critical to avoiding prolonged neuromonitoring and unnecessary interventions for this patient. According to Singer and Quencer, confirmatory diagnosis is made by biopsy or Tc99m labeled sulfur colloid; however, considering the patient was clinically stable so we opted for no further testing.[
Mehta et al. have reported the only other case of head trauma and intracranial EMH in a patient with beta-thalassemia. The authors described the case of a 67-year-old female who presented 4 days after a mechanical fall with an altered level of consciousness and a chronic appearing subdural hematoma treated with burr-hole evacuation.[
Neuroaxis extramedullary pseudotumors can be managed nonoperatively or operatively. Several authors have reported acceptable outcomes after surgical resection.[
No written consent could be obtained for this publication. The first author received verbal consent from the patient on two separate occasions; however, attempts to receive a signed consent from the patient were unsuccessful. We believe that our manuscript does not have personal identifiers which would jeopardize the patient’s confidentiality.
Intracranial extramedullary hematopoietic pseudotumor is a rare clinical phenotype and should be considered in the differential diagnosis for a space-occupying extra-axial lesion in a patient with history of beta-thalassemia and head trauma.
Patient’s consent not required as patient’s identity is not disclosed or compromised.
There are no conflicts of interest.
The views and opinions expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the Journal or its management. The information contained in this article should not be considered to be medical advice; patients should consult their own physicians for advice as to their specific medical needs.
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