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|LETTER TO EDITOR
|Year : 2018 | Volume
| Issue : 4 | Page : 1174-1175
Moyamoya disease associated with hereditary spherocytosis
Saraf U Umesh1, K Arun1, Sapna E Sreedharan1, P Rajalakshmi2, PN Sylaja1
1 Comprehensive Stroke Care Program, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India
2 Department of Pathology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India
|Date of Web Publication||18-Jul-2018|
Dr. P N Sylaja
Comprehensive Stroke Care Program, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum - 695 011, Kerala
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Umesh SU, Arun K, Sreedharan SE, Rajalakshmi P, Sylaja P N. Moyamoya disease associated with hereditary spherocytosis. Neurol India 2018;66:1174-5
Moyamoya disease (MMD) is a rare chronic cerebrovascular disorder characterized by progressive bilateral occlusion of the supraclinoid internal carotid artery (ICA) and its main branches and is associated with the development of fine collateral vascular networks. Moyamoya syndrome is found in conjunction with the presence of systemic disorders such as sickle cell disease, arterial dissection, and intracranial atherosclerotic disease. We report a rare association of MMD with hereditary spherocytosis (HS) in a 9-year old child who presented with recurrent stroke.
A 9-year old girl with normal growth and development, evaluated following a right middle cerebral artery (MCA) stroke at 5 years, was detected to have spherocytosis [hemoglobin (Hb): 5.9 g%] with a positive family history (also present in the elder sibling). She later developed recurrent right MCA stroke, while on a single antiplatelet agent and blood transfusions, at 7 years of age. She presented to us with right-sided weakness and facial deviation at 9 years of age. Her neurological examination revealed left upper motor neuron facial palsy and weakness of left upper limb with left visual inattention. The magnetic resonance imaging of brain showed fluid-attenuated inversion recovery hyperintensities in the right frontal subcortical and temporoparietal region suggestive of an old infarct. Diffusion-weighted magnetic resonance imaging sequences showed an acute infarct in the left parietal region [Figure 1]a and [Figure 1]b. In view of pediatric bi-hemispheric recurrent strokes, digital subtraction angiogram (DSA) [Figure 1]d and [Figure 1]e was done which showed severe stenosis of the right supraclinoid internal carotid artery (ICA) and complete occlusion of the left supraclinoid ICA with severely stenosed bilateral MCA and anterior cerebral artery, reformed by collaterals suggestive of MMD. Peripheral smear showed 80%–90% of microspherocytes [Figure 1]c and osmotic fragility test showed an increased osmotic fragility. Hb electrophoresis was normal. In the background of the elder sibling having spherocytosis, a diagnosis of HS was confirmed. She was kept on antiplatelet agents and referred for a splenectomy.
|Figure 1: MRI axial diffusion weighted image [DWI] (a) showed DWI hyperintensity in the left temporal region suggestive of an acute infarct. MRI axial fluid attenuation inversion recovery [FLAIR] (b) showed hyperintensity in the right frontal subcortical and the right temporoparietal region with gliosis and volume loss suggestive of an old infarct (c). The peripheral blood smear showed moderate degree of spherocytosis, mild anisocytosis, and an occasional polychromatophil. Digital subtraction angiography (d and e) showed severe stenosis of the right supraclinoid ICA and complete occlusion of the left supraclinoid ICA with basal collaterals reforming the bilateral MCA and ACA, which were severely stenosed|
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MMD is rarely associated with HS and only five previous case reports of moyamoya associated with HS are reported in literature. Severe hemolysis may trigger endothelial injury and contribute to oxidative damage through nitric oxide scavenging. In addition, less deformability of the red blood cells (RBCs) and increased blood flow associated with anemia contribute to endothelial proliferation, which progresses slowly and produces stenosis followed by occlusion. Increased hemolysis can also lead to chronic hypoxia and abnormal vasculature. As moyamoya syndrome is well known to be associated with sickle cell disease and other prothrombotic states, moyamoya syndrome in this child is in all likelihood related to spherocytosis. Splenectomy with maintenance blood transfusions to prevent anemia are the main components of treatment in HS, which is even more important in patients with associated MMD. Prevention of anemia is crucial because it is an important risk factor for ischemic events. Splenectomy will prevent the destruction of RBCs, prevent anemia, and increase the survival of RBCs. Revascularization surgery is often done in MMD to prevent recurrent ischemic events. However, the role of revascularization surgery for MMD in the presence of HS is not clear. Although rare, it is important that physicians consider the possibility of MMD in a patient with HS presenting with stroke.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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