Two Sides of a Coin: Case Report of Unilateral Synangiosis and Contralateral Stroke Highlighting Consequences of Disease Progression and Efficacy of Revascularization in Sickle Cell Disease Associated Moyamoya Syndrome

2021 ◽  
Author(s):  
Anna L. Slingerland ◽  
Madeline B. Karsten ◽  
Edward R. Smith ◽  
Amy E. Sobota ◽  
Alfred P. See
Keyword(s):  
Sickle Cell Disease ◽  
Disease Progression ◽  
Sickle Cell ◽  
Heart Association ◽  
Standard Of Care ◽  
Collaborative Management ◽  
Moyamoya Syndrome ◽  
Cell Disease ◽  
Revascularization Surgery ◽  
Consequences Of Disease

Moyamoya syndrome increases the risk of stroke in sickle cell disease, but revascularization surgery can modify this risk. Collaborative management between hematology and neurosurgery offers effective strategies to reduce stroke risk in these patients. We describe a challenging case where a patient with sickle cell disease undergoing standard of care management as prescribed by the Stroke Prevention Trial in Sickle Cell Anemia (STOP) and revascularization with pial synangiosis subsequently developed rapidly progressive disease in other cerebral vessels and suffered ischemic hemispheric stroke. This case demonstrates the success of management in accordance with American Heart Association (AHA) and American Stroke Association (ASA) guidelines, but also demonstrates critical areas where we lack understanding of disease progression.

scholarly journals Vitamin D and Nonskeletal Complications among Egyptian Sickle Cell Disease Patients

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Mona Hamdy ◽  
Niveen Salama ◽  
Ghada Maher ◽  
Amira Elrefaee
Keyword(s):  
Vitamin D ◽  
Sickle Cell Disease ◽  
Vitamin D Deficiency ◽  
Sickle Cell ◽  
Standard Of Care ◽  
Enzyme Linked Immunosorbent Assay ◽  
Cell Disease ◽  
P Values ◽  
Indirect Bilirubin ◽  
Deficient Group

Lower levels of vitamin D have been documented in many patients with sickle cell disease (SCD), but data are still inconclusive regarding the association between vitamin D deficiency (VDD) and the occurrence or the severity of various SCD complications. Our study aimed to detect the prevalence of vitamin D deficiency among Egyptian patients with SCD and to associate it with the clinical course of the disease. We measured the level of 25-hydroxy vitamin D in 140 children (age from 4.3 to 15.5years), 80 patients with SCD and 60 controls using enzyme-linked immunosorbent assay. Vitamin D was deficient in 60% of SCD compared to 26.7% of controls. Severe VDD was significantly higher in SCD patients than controls. Patients were divided into 2 groups; Normal group (32 patients) and Deficient group (48 patients). There were statistically significant differences between the 2 groups regarding their age, height percentile, the presence of clinical jaundice, and osseous changes (P values 0.043, 0.024, 0.001, and 0.015, respectively). Hemoglobin and hematocrit values were significantly lower in Deficient group (P values 0.022 and 0.004, respectively) while the levels of aspartate aminotransferase, lactate dehydrogenase, and total and indirect bilirubin were significantly higher in the same group (P values 0.006, 0.001, 0.038, and 0.016, respectively). The frequency of blood transfusions, hospitalization, and vasoocclusive crisis previous year as well as the history of bone fracture and recurrent infections proved to be significantly higher in Deficient group. These findings suggest that VDD may play a role in the pathogenesis of hemolysis and other complication of SCD. Vitamin D monitoring and supplementation in patients with SCD should be implemented as a standard of care to potentially improve health outcomes in these affected patients.

scholarly journals Case Report: Acute Stroke in Young Adult Patient with Moyamoya Syndrome Secondary to Sickle Cell Disease

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 13-13
Author(s):  
Oladipo Cole ◽  
Asia Filatov ◽  
Javed Khanni ◽  
Patricio Espinosa
Keyword(s):  
Case Report ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Moyamoya Disease ◽  
Conflicts Of Interest ◽  
Acute Chest Syndrome ◽  
African American Female ◽  
Moyamoya Syndrome ◽  
Cell Disease ◽  
Radiographic Findings

Moyamoya disease, well described in literature, is a chronic cerebrovascular occlusive disorder. It is characterized by progressive stenosis/occlusion of the terminal portions of the internal carotid arteries (ICA) and the proximal portions of the middle cerebral arteries (MCA). Less frequently described is Moyamoya syndrome, the name given to radiographic findings consistent with Moyamoya disease, but with an identifiable cause. The diseases associated with Moyamoya Syndrome include Sickle Cell Disease (SCD), Thalassemias, and Down's Syndrome to name a few. Common complications of Moyamoya include both ischemic and hemorrhagic strokes. Upon literature review, Moyamoya syndrome caused by SCD is not well described. When it is, the discussion is centered around the pediatric patient population and surgical management. Our case report describes a 22-year-old African American female with SCD who initially presented with Acute Chest Syndrome. Her hospital course was complicated by development of overt debilitating neurologic deficits. Subsequently, she was found to have Moyamoya Syndrome on neuroimaging. She was successfully treated with medical management without any surgical intervention. This case highlights the necessity of thorough examination, differential diagnosis, imaging findings, and consideration of predisposing syndromes in the work-up for Moyamoya syndrome; especially individuals with Sickle Cell Disease. Disclosures No relevant conflicts of interest to declare.

scholarly journals Implementing a standard-of-care clinic for stroke prevention in children with sickle cell disease in Nigeria: a feasible strategy outside a clinical trial setting

2017 ◽  
Vol 1 (Suppl) ◽  
pp. 23-25
Author(s):  
Najibah A. Galadanci ◽  
Shehu U. Abdullahi ◽  
Leah D. Vance ◽  
Musa A. Tabari ◽  
Shehi Abubakar ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Stroke Prevention ◽  
Standard Of Care ◽  
Cell Disease ◽  
Care Clinic ◽  
Clinical Trial Setting ◽  
Trial Setting

scholarly journals Metabolomic and molecular insights into sickle cell disease and innovative therapies

2019 ◽  
Vol 3 (8) ◽  
pp. 1347-1355 ◽  
Author(s):  
Morayo G. Adebiyi ◽  
Jeanne M. Manalo ◽  
Yang Xia
Keyword(s):  
Sickle Cell Disease ◽  
Disease Progression ◽  
Sickle Cell ◽  
Intracellular Signaling ◽  
Metabolic Reprogramming ◽  
Flux Analysis ◽  
High Morbidity ◽  
Cell Disease ◽  
Sickle Hemoglobin

Abstract Sickle cell disease (SCD) is an autosomal-recessive hemolytic disorder with high morbidity and mortality. The pathophysiology of SCD is characterized by the polymerization of deoxygenated intracellular sickle hemoglobin, which causes the sickling of erythrocytes. The recent development of metabolomics, the newest member of the “omics” family, has provided a powerful new research strategy to accurately measure functional phenotypes that are the net result of genomic, transcriptomic, and proteomic changes. Metabolomics changes respond faster to external stimuli than any other “ome” and are especially appropriate for surveilling the metabolic profile of erythrocytes. In this review, we summarize recent pioneering research that exploited cutting-edge metabolomics and state-of-the-art isotopically labeled nutrient flux analysis to monitor and trace intracellular metabolism in SCD mice and humans. Genetic, structural, biochemical, and molecular studies in mice and humans demonstrate unrecognized intracellular signaling pathways, including purinergic and sphingolipid signaling networks that promote hypoxic metabolic reprogramming by channeling glucose metabolism to glycolysis via the pentose phosphate pathway. In turn, this hypoxic metabolic reprogramming induces 2,3-bisphosphoglycerate production, deoxygenation of sickle hemoglobin, polymerization, and sickling. Additionally, we review the detrimental role of an impaired Lands’ cycle, which contributes to sickling, inflammation, and disease progression. Thus, metabolomic profiling allows us to identify the pathological role of adenosine signaling and S1P-mediated erythrocyte hypoxic metabolic reprogramming and hypoxia-induced impaired Lands' cycle in SCD. These findings further reveal that the inhibition of adenosine and S1P signaling cascade and the restoration of an imbalanced Lands' cycle have potent preclinical efficacy in counteracting sickling, inflammation, and disease progression.

Stroke in hemoglobin (SD) sickle cell disease with moyamoya: successful hydroxyurea treatment after cerebrovascular bypass surgery

Blood ◽  
2001 ◽  
Vol 97 (7) ◽  
pp. 2165-2167 ◽  
Author(s):  
Markus Schmugge ◽  
Hannes Frischknecht ◽  
Yasuhiro Yonekawa ◽  
Ralf W. Baumgartner ◽  
Eugen Boltshauser ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Bypass Surgery ◽  
Cerebral Arteries ◽  
Moyamoya Syndrome ◽  
Cell Disease ◽  
Hemoglobin F ◽  
Hydroxyurea Treatment ◽  
Neurologic Sequelae ◽  
Artery Obstruction

Abstract An 11-year-old boy with hemoglobin sickle disease (HbSD), bilateral stenosis of the intracranial carotid arteries, and moyamoya syndrome had recurrent ischemic strokes with aphasia and right hemiparesis. His parents (Jehovah's Witnesses) refused blood transfusions. After bilateral extracranial–intracranial (EC-IC) bypass surgery, hydroxyurea treatment increased hemoglobin F (HbF) levels to more than 30%. During a follow-up of 28 months, flow velocities in the basal cerebral arteries remained stable, neurologic sequelae regressed, and ischemic events did not recur. This is the first report of successful hydroxyurea treatment after bypass surgery for intracranial cerebral artery obstruction with moyamoya syndrome in sickle cell disease. The patient's religious background contributed to an ethically challenging therapeutic task.

Use of Transfusion to Treat Acute Chest In Sickle Cell Disease:California Hospital Practice Patterns

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 253-253 ◽  
Author(s):  
Susan Claster ◽  
Ellen Iverson ◽  
Sheree M Schrager ◽  
Vanessa Guzman ◽  
Julie Wolfson
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Practice Patterns ◽  
Standard Of Care ◽  
Acute Chest Syndrome ◽  
Secondary Diagnosis ◽  
Inclusion Criteria ◽  
Cell Disease ◽  
Discharge Data ◽  
Public Data

Abstract Abstract 253 Introduction: Acute chest syndrome (ACS) is a leading cause of morbidity and mortality in patients with Sickle Cell Disease (SCD). Although the NIH recommends transfusion as standard of care therapy for this diagnosis, practice patterns vary. In 2000, the National Acute Chest Study group found that 72% of patients with ACS were transfused. This study, which was perfomed at academic medical centers with sickle cell treatment programs, used specific diagnostic inclusion criteria. As ACS may be difficult to distinguish from pneumonia, recognition and treatment of the diagnosis may vary by hospital and by presence or absence of a sickle cell specialist. With access to hospital discharge data from all California hospitals seeing SCD patients, we aimed to describe transfusion practices in ACS. Methods: This retrospective cohort study uses 2005–2008 public data from the California Office of Statewide Health Planning and Development (OSHPD). Data included all inpatient and emergency department (ED) discharges from all non-federal California hospitals. Cases were selected based on discharge from or admission via an ED and the presence of a sickle cell disease ICD-9 code in the primary or a secondary diagnosis (282.60-282.69, 282.41–282.42). Further inclusion criteria included presence of ACS (517.3) or respiratory diagnoses including pneumonia, pulmonary edema, acute respiratory distress syndrome, hypoxia and respiratory failure in any primary or secondary diagnosis. Frequency of transfusion, intubation and mortality were described and chi-square tests were performed to determine the statistical significance of differences between groups of patients treated with or without transfusion as well as between groups of adults and children. Results: Between 2005–2008, 4306 ED visits by Californians with SCD were associated with either ACS or a related respiratory diagnosis and only 42.5% of these cases were associated with transfusion. Limiting the diagnosis to ACS only, 1399 cases were identified, and still only 50.4% of these cases were associated with transfusion. Among patients with ACS or a related diagnosis, the majority were admitted to the hospital (90.9%); only 59.2% of intubated cases (n=238) were transfused; and of the 92 deaths during this period, only 46.7% were associated with transfusion. Patients who were 18 and over were transfused more often than young children (43.2% vs. 35.7%; 2(1)=12.37, p<0.001). Conclusions: Despite transfusion being the standard of care for treatment of ACS as well as other sickle–related complications, many ACS cases in California are not being treated in this manner. Surprisingly, the most severely ill patients, those who were either intubated or died during the study period, had a lower transfusion frequency than the cohort as a whole. Although some mild pediatric cases may not be transfused, a minority of the total cohort was under 18 years old. Recent studies imply that patients transitioning out of pediatric SCD programs have an increased risk of dying due to ACS and other serious SCD complications. Our study suggests that underutilization of transfusion may play a role in these poor adult outcomes in SCD. These findings prompt further investigation into the role of transition to adult care and appropriate medical homes in access to quality SCD care. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Effectiveness of surgical revascularization for stroke prevention in pediatric patients with sickle cell disease and moyamoya syndrome

2017 ◽  
Vol 20 (3) ◽  
pp. 232-238 ◽  
Author(s):  
Wuyang Yang ◽  
Risheng Xu ◽  
Jose L. Porras ◽  
Clifford M. Takemoto ◽  
Syed Khalid ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Stroke Prevention ◽  
Pediatric Patients ◽  
Moyamoya Syndrome ◽  
Cell Disease ◽  
Surgical Revascularization ◽  
Transfusion Therapy ◽  
Indirect Revascularization

OBJECTIVESickle cell disease (SCD) in combination with moyamoya syndrome (MMS) represents a rare complication of SCD, with potentially devastating neurological outcomes. The effectiveness of surgical revascularization in this patient population is currently unclear. The authors’ aim was to determine the effectiveness of surgical intervention in their series of SCD-MMS patients by comparing stroke recurrence in those undergoing revascularization and those undergoing conservative transfusion therapy.METHODSThe authors performed a retrospective chart review of patients with MMS who were seen at the Johns Hopkins Medical Institution between 1990 and 2013. Pediatric patients (age < 18 years) with confirmed diagnoses of SCD and MMS were included. Intracranial stroke occurrence during the follow-up period was compared between surgically and conservatively managed patients.RESULTSA total of 15 pediatric SCD-MMS patients (28 affected hemispheres) were included in this study, and all were African American. Seven patients (12 hemispheres) were treated with indirect surgical revascularization. The average age at MMS diagnosis was 9.0 ± 4.0 years, and 9 patients (60.0%) were female. Fourteen patients (93.3%) had strokes before diagnosis of MMS, with an average age at first stroke of 6.6 ± 3.9 years. During an average follow-up period of 11.6 years, 4 patients in the conservative treatment group experienced strokes in 5 hemispheres, whereas no patient undergoing the revascularization procedure had any strokes at follow-up (p = 0.029). Three patients experienced immediate postoperative transient ischemic attacks, but all recovered without subsequent strokes.CONCLUSIONSIndirect revascularization is suggested as a safe and effective alternative to the best medical therapy alone in patients with SCD-MMS. High-risk patients managed on a regimen of chronic transfusion should be considered for indirect revascularization to maximize the effect of stroke prevention.

Encephaloduroateriosynangiosis (EDAS) in the management of Moyamoya syndrome in children with sickle cell disease

2017 ◽  
Vol 33 (2) ◽  
pp. 161-164 ◽  
Author(s):  
Alexander Alamri ◽  
Pennylouise Hever ◽  
Jebet Cheserem ◽  
Catia Gradil ◽  
Sanj Bassi ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Moyamoya Syndrome ◽  
Cell Disease

Primary Prophylaxis in Sickle Cell Disease: Is It Feasible? Is It Effective?

Hematology ◽  
2011 ◽  
Vol 2011 (1) ◽  
pp. 434-439 ◽  
Author(s):  
Alexis A. Thompson
Keyword(s):  
Clinical Trials ◽  
Sickle Cell Disease ◽  
Disease Progression ◽  
Organ Dysfunction ◽  
Sickle Cell ◽  
Primary Prophylaxis ◽  
Organ Injury ◽  
Clear Understanding ◽  
Cell Disease ◽  
Laboratory Tool

Abstract Consideration of primary prophylaxis to prevent complications of sickle cell disease (SCD) requires a clear understanding of the earliest manifestations of SCD-related organ injury, a reliable clinical or laboratory tool to detect organ dysfunction, and evidence that an intervention instituted in the presymptomatic state can mitigate disease progression. This review examines the pathophysiology of SCD in organs that may be potential targets for intervention, our current capacity to evaluate early SCD manifestations, results of clinical trials, and opportunities for future interventions.

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