Moyamoya syndrome in sickle cell anaemia: a cause of recurrent stroke

Abstract

SUMMARYWe report a case with interesting imaging findings as well as an unfortunate but not unexpected clinical outcome. Our patient, an 8-year-old Jamaican boy of Afro-Caribbean descent with homozygous sickle cell disease, presented with left-sided upper limb weakness. He had a history of recurrent cerebrovascular accidents and transient ischaemic attacks beginning at 4 years of age. MRI revealed old bilateral infarctions and the ivy sign on fluid-attenuated inversion recovery sequences. MR angiography demonstrated numerous collaterals, most apparently arising from the left internal carotid, consistent with moyamoya syndrome. The patient had a full recovery and remained well for almost 2 years when he suffered another stroke. BACKGROUND

Pathologic angiogenesis in the bone marrow of humanized sickle cell mice is reversed by blood transfusion

“…[9][10][11] Indeed, abnormal angiogenesis in SCD patients has been suggested by moyamoya disease and proliferative vessel formation in the retina. [12][13][14][15][16][17][18][19][20] Moreover, an increase in proangiogenic factors has been reported in peripheral blood (PB) of patients with SCD. [16][17][18][19][20] The only curative option for SCD has been allogeneic hematopoietic stem cell (HSC) transplantation; however, major limitations and challenges exist for HSC transplantation in SCD patients.…”

Moyamoya Syndrome in a 32-Year-Old Male With Sickle Cell Anemia

“…The exact pathogenesis of MMD is not clearly understood [ 13 ]. Risk factors for MMD include East Asian genetics, pediatric age group, female gender and family history of MMD [ 1 , 4 , 12 ]. Common underlying conditions associated with MMS include neurofibromatosis, systemic lupus erythematosus, tuberous sclerosis, periarteritis nodosa, mesial temporal sclerosis, thyrotoxicosis, Down’s syndrome and previous radiation therapy [ 1 , 4 , 12 ].…”

“…Medical management of MMS with SCD includes blood transfusions which can reduce the clinical symptoms and complications such as strokes, transient ischemic attacks and seizures. Nevertheless, recent studies imply chronic transfusions do not prevent the disease progression and that revascularization surgeries are actually more effective in the long-run, especially before the onset of neurological deficits [ 1 , 12 , 14 , 17 , 18 ].…”

“…MMD refers to the disease itself without a predisposing condition. However, moyamoya syndrome (MMS) refers to MMD in the presence of a predisposing condition, such as neurofibromatosis, systemic lupus erythematosus, tuberous sclerosis and sickle cell disease (SCD) [ 1 , 12 ]. The association of SCD with MMS is uncommon [ 13 ].…”

What and why: the current situation and future prospects of “ivy sign” in moyamoya disease

“… 2 , 9 – 15 Among them, seven cases are bilateral MMD and two are unilateral MMD (one left and one right). Notably, there are three moyamoya syndrome (MMS) patients combined with sickle cell disease, 11 β-thalassemia intermedia, 12 and neurofibromatosis type 1, 14 respectively. Overall, the proportion of pediatric (<16 years) MMD/MMS patients is 8/10.…”