scholarly journals Acute Soft Head Syndrome (Subgaleal Haematoma) with Periorbital Oedema as a Rare Presentation in Sickle Cell Disease

2020 ◽  
Author(s):  
Rehab Yusuf AL-Ansari ◽  
Maan Al Harbi ◽  
Nawaf Al-Jubair ◽  
Leena Abdalla
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
Genetic Condition ◽  
Rare Presentation ◽  
Case Presentation ◽  
Periorbital Oedema ◽  
The Right ◽  
The Brain ◽  
Ct And Mri

Background: Sickle cell disease is a genetic condition frequently found in Africa and the Arabian Peninsula. Uncommon complications include subgaleal haematoma (soft head syndrome) and periorbital oedema. Case presentation: A 17-year-old male patient presented with body aches and progressive right parieto-temporal and frontal head swelling. Physical examination revealed puffiness of the right eye that progressed rapidly to reddish periorbital oedema sparing the extraocular muscle and pupil response to light. CT and MRI of the brain suggested multiple subgaleal haematomas (soft head syndrome) and right periorbital oedema. Conclusion:Subgaleal haematoma (soft head syndrome) and periorbital oedema are uncommon complications of sickle cell disease. Management is conservative rather than surgical.

Cerebral Tissue Desaturation in Children with Sickle Cell Disease

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 512-512
Author(s):  
Charles T. Quinn ◽  
Pamela D. Hoof ◽  
Michael M. Dowling
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cerebral Oximetry ◽  
Arterial Blood Flow ◽  
Cell Disease ◽  
Cerebral Tissue ◽  
Cerebral Desaturation ◽  
The Right ◽  
Hb Concentration ◽  
The Brain

Abstract Abstract 512 Background: Children with sickle cell disease (SCD) frequently suffer silent and overt cerebral infarction. Current screening and prevention techniques are suboptimal. Absolute cerebral oximetry is a rapid, non-invasive technique to measure hemoglobin (Hb) saturation in the brain. Cerebral tissue Hb saturation (SCTO2) is a physiologic measurement of the balance between oxygen supply and demand that could be used to identify regions of the brain at highest risk of infarction. We aimed to describe the distribution of SCTO2 in children with SCD and to identify its relationships with clinical, laboratory, and neuroimaging characteristics as well as response to transfusion. Methods: We used transcutaneous near-infrared spectrophotometry (CASMED FORE-SIGHT®) with bi-frontal probes to measure absolute SCTO2 in children with sickle cell anemia (SS), sickle-β0-thalassemia (Sβ0), sickle hemoglobin C disease (SC), and sickle-β+-thalassemia (Sβ+) during steady-state clinic visits or at the time of transfusion for stroke prophylaxis. Spearman correlation and multivariable modeling were used to test the relationships between SCTO2 and age, sex, genotype, Hb concentration, percent Hb F, percent reticulocytes, peripheral Hb saturation (SPO2), and cerebral arterial blood flow velocities by transcranial Doppler ultrasonography (TCD). Results: We studied 149 children (112 SS/Sβ0; 37 SC/Sβ+) with a mean age of 6.6±4.7 years (±S.D.). SCTO2 is known to be 65–80% in normoxic individuals with normal hemoglobin type and concentration breathing room air, but we found SCTO2 to be markedly lower in SCD: 53.2±14.2 (mean±SD) in SS/Sβ0 and 66.1±9.2% in SC/Sβ+ patients. SCTO2 was abnormally low (<65%) in 75% of SS/Sβ0 and 35% of SC/Sβ+ patients. SCTO2 correlated significantly with age (Spearman ρ=-0.54, P<0.001), sex (0.38, P<0.001), Hb concentration (0.38, P<0.001), percent reticulocytes (-0.3, P=0.002), percent Hb F (0.37, P<0.001), and SPO2 (0.4, P<0.001), but not TCD velocities as continuous measurements. However, when TCD velocities were categorized according to STOP criteria (abnormal and conditional vs. normal), SCTO2 was lower when the TCD velocity in the ipsilateral distal internal carotid artery was not normal (right-sided SCTO2: 39.2% for abnormal and conditional TCD vs. 57% for normal TCD, P=0.027). In multivariable models, the significant independent determinants of SCTO2 were SPO2 (P=0.004), Hb concentration (P=0.004), and age (P<0.001). Each unit decrease (1% absolute) in SPO2 gave an odds ratio of 1.4 or 1.5 for an abnormally low (<25th percentile) SCTO2 in the left and right hemispheres, respectively (AUC 0.84; P<0.001). Transfusion increased SCTO2 by 15.3% (absolute) on the left (P=0.002) and 23.6% (absolute) on the right (P=0.06). Two participants had severe unilateral cerebral vasculopathy demonstrated by magnetic resonance angiography. Both had a lower pre-transfusion SCTO2 on the side of the stenosis or occlusion (5-20% lower). The SCTO2 rose during the course of transfusion (10-30% absolute rise in SCTO2), and by the end of the transfusion the right- and left-sided SCTO2 measurements equalized. Conclusions: Cerebral tissue Hb desaturation is common in children with SCD and more severe in the SS/Sβ0 genotypes. Cerebral desaturation is associated with peripheral Hb desaturation, more severe anemia, increasing age, and occlusive vasculopathy, and it is ameliorated by transfusion. Cerebral desaturation, which can be detected rapidly and non-invasively, is a physiologic biomarker of brain at risk for ischemic injury. Cerebral oximetry should be studied further as a physiologic means to predict stroke and guide transfusion therapy for the prophylaxis of stroke in SCD. Disclosures: No relevant conflicts of interest to declare.

Quantitative MRI of the brain in children with sickle cell disease reveals abnormalities unseen by conventional MRI

1998 ◽  
Vol 8 (3) ◽  
pp. 535-543 ◽  
Author(s):  
R. Grant Steen ◽  
Wilburn E. Reddick ◽  
Raymond K. Mulhern ◽  
James W. Langston ◽  
Robert J. Ogg ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Quantitative Mri ◽  
Cell Disease ◽  
Conventional Mri ◽  
The Brain

scholarly journals End points for sickle cell disease clinical trials: patient-reported outcomes, pain, and the brain

2019 ◽  
Vol 3 (23) ◽  
pp. 3982-4001 ◽  
Author(s):  
Ann T. Farrell ◽  
Julie Panepinto ◽  
C. Patrick Carroll ◽  
Deepika S. Darbari ◽  
Ankit A. Desai ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Clinical Trials ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Patient Reported Outcomes ◽  
Cell Disease ◽  
End Points ◽  
Additional Clinical Trial ◽  
Patient Reported ◽  
The Brain

Abstract To address the global burden of sickle cell disease (SCD) and the need for novel therapies, the American Society of Hematology partnered with the US Food and Drug Administration to engage the work of 7 panels of clinicians, investigators, and patients to develop consensus recommendations for clinical trial end points. The panels conducted their work through literature reviews, assessment of available evidence, and expert judgment focusing on end points related to: patient-reported outcomes (PROs), pain (non-PROs), the brain, end-organ considerations, biomarkers, measurement of cure, and low-resource settings. This article presents the findings and recommendations of the PROs, pain, and brain panels, as well as relevant findings and recommendations from the biomarkers panel. The panels identify end points, where there were supporting data, to use in clinical trials of SCD. In addition, the panels discuss where further research is needed to support the development and validation of additional clinical trial end points.

Infusion of Pegylated Bovine Carboxyhemoglobin (PEG-COHb) Is Associated with Rapid Reversal of Progressive Acute Chest Syndrome in a Jehovah's Witness Patient with Hemoglobin SC Sickle Cell Disease

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 4541-4541 ◽  
Author(s):  
Roberta Miyeko Kato ◽  
Thomas Hofstra ◽  
Herbert J. Meiselman ◽  
Henry Jay Forman ◽  
Abe Abuchowski ◽  
...  
Keyword(s):  
Carbon Monoxide ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Lower Lobe ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
X Ray ◽  
Rapid Reversal ◽  
Chest X Ray ◽  
The Right

Abstract Acute chest syndrome (ACS) is a potentially fatal complication of sickle cell disease (SCD) and is characterized by opacification of the chest x-ray (CXR) and progressive pulmonary failure due, in part, to intra-pulmonary sickling. The ACS process can proceed very rapidly from a small area of lung involvement in one lobe to total opacification of the lung and pulmonary failure within 12 to 24 hours. In the early phases of this process, oxygenation and pulmonary function may be preserved. In the face of rapidly progressing CXR changes, the ACS process may be reversed if diagnosed early and managed by emergent transfusion to decrease the percent of sickle red blood cells (SRBC). A 10 years old African American child with hemoglobin SC type SCD was transferred to our institution with fever and right upper lobe consolidation. Her respiratory rate was 23 breaths/min, SpO2 was 95% breathing room air. Serial CXR showed opacification of the entire right lung and part of the left lower lobe over a 12-hour period (Panel A). Because of the rapid progression, transfusion was recommended. However, because of the family's Jehovah's Witness religious faith, transfusion was refused. PEG-COHb is in clinical development for the treatment of SCD and is designed to deliver preloaded carbon monoxide (CO), pick up O2, and deliver O2 to hypoxic tissue. PEG-COHb serves as a vasodilator and anti-inflammatory agent. It has been shown to have anti-sickling properties in vitro (ASH Abstract 1372, 2014). The agent was obtained from Prolong Pharmaceuticals via an emergency IND (16432) from the FDA. The agent was acceptable to the family and church elders. After written consent was obtained, 500 cc were infused according to dosing information obtained from Prolong Pharma. The CXR (Panel A) 3 hours before infusion shows opacification of the right lung and the left lower lobe. A CXR obtained one hour after infusion showed no worsening, and the CXR (Panel B) obtained 29 hours after Panel A shows significant improvement in the opacification of the lower lobes. The right upper lobe consolidation was likely bacterial pneumonia, and would not be expected to clear rapidly. The patient was mildly hypertensive for age (138/72 mmHg) prior to PEG-COHb infusion. Her blood pressure rose to 153/85 mmHg during infusion; the infusion was stopped and anti-hypertensives were administered. The infusion was restarted at a lower infusion rate and completed in 6 hours instead of the planned 4 with no untoward effects. She was discharged 4 days after the infusion. There were no other serious adverse events clearly related to the drug. There were significant laboratory abnormalities and transaminases that were most likely falsely elevated due to interference of the PEG-COHb with the laboratory methods. Continuous non-invasive monitoring of carboxyhemoglobin showed basal levels of 7% rose to 24% during infusions and returned to normal prior to discharge. Continual recording of SpO2, methemoglobin, heart-rate variability and blood rheological measures showed no significant abnormalities. The rapid reversal of radiographic features consistent with progressive "pure ACS" secondary to the right upper lobe infectious process suggests that PEG-COHb may be an effective treatment for sickle cell related ACS. SHAPE Figure 1. Panel A demonstrates the chest x-ray 3 hours prior to PEG-COHb with right upper lobe consolidation and evolving bilateral lower lobe consolidation and Panel B 29 hours following administration of PEG-COHb demonstrating improvement in the lower lobes. Figure 1. Panel A demonstrates the chest x-ray 3 hours prior to PEG-COHb with right upper lobe consolidation and evolving bilateral lower lobe consolidation and Panel B 29 hours following administration of PEG-COHb demonstrating improvement in the lower lobes. Disclosures Off Label Use: SANGUINATE (pegylated carboxyhemoglobin bovine) is 40 mg/mL of purified bovine hemoglobin that has been pegylated, saturated with carbon monoxide, and dissolved in a buffered saline solution.. Abuchowski:Prolong Pharmaceuticals: Employment. Parmar:Prolong Pharmaceuticals: Employment.

scholarly journals Rheumatoid arthritis in a sickle cell patient: a dangerous association?

2021 ◽  
Vol 2 ◽  
pp. 29-31
Author(s):  
Fatoumata Diakité ◽  
Youssouf Traoré ◽  
Boubacari Ali Touré ◽  
Boureima Kodio ◽  
Mohomedine Touré ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Normocytic Anemia ◽  
Cell Disease ◽  
Ulnar Deviation ◽  
Reactive Protein ◽  
The Right ◽  
Inflammatory Syndrome ◽  
Citrullinated Peptide

Introduction - The diagnosis of rheumatoid arthritis remains a challenge because sickle cell disease can result in various rheumatological manifestations, including joint and bone pain. The concomitant presence of rheumatoid arthritis and sickle cell disease makes the therapeutic management of both conditions problematic. Observation - A 24-year-old man, a nurse by profession, has been followed for 10 years for homozygous sickle cell disease at the Sickle Cell Disease Research Center (CRLD) of Bamako, Mali. He has presented for 8 months symmetrical polyarthritis with morning stiffness of 3 hours, distinct from the usual vaso-occlusive crisis. The Analog Visual Scale was estimated at 80/100. He reported unquantified weight loss and asthenia. The physical examination showed a deformity in bilateral ulnar deviation, flexion of the right elbow, twelve painful joints, and five swollen joints. Normochromic normocytic anemia (hemoglobin 8.3g/dl), inflammatory syndrome with C - Reactive Protein (CRP) 130.91 mg, and Sedimentation Rate (ESR) 72mm at the first hour were noted. Rheumatoid Factor was weakly positive at 21.3 IU and Anti Citrullinated Peptide Antibodies at 385.2 IU. The radiography discovered bilateral erosive carpets without associated tarsitis and osteonecrosis of both femoral heads. The diagnosis of a very active immunopositive erosive rheumatoid arthritis meeting the criteria of ACR / EULAR 2010 was retained. A treatment based on prednisone 10 mg per day was initiated, associated with methotrexate at a dosage of 15 mg weekly in single-dose, folic acid, calcium, and vitamin D. Conclusion - The coexistence of rheumatoid arthritis in sickle cell patients makes the diagnosis of polyarthritis difficult.

scholarly journals Progressive vasoconstriction with sequential thermal stimulation indicates vascular dysautonomia in sickle cell disease

Blood ◽  
2020 ◽  
Vol 136 (10) ◽  
pp. 1191-1200 ◽  
Author(s):  
Saranya Veluswamy ◽  
Payal Shah ◽  
Maha Khaleel ◽  
Wanwara Thuptimdang ◽  
Patjanaporn Chalacheva ◽  
...  
Keyword(s):  
Blood Flow ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Thermal Exposure ◽  
Thermal Stimulation ◽  
Microvascular Blood Flow ◽  
Cell Disease ◽  
Threshold Temperatures ◽  
Contralateral Hand ◽  
The Right

Abstract Persons with sickle cell disease (SCD) exhibit subjective hypersensitivity to cold and heat perception in experimental settings, and triggers such as cold exposure are known to precipitate vaso-occlusive crises by still unclear mechanisms. Decreased microvascular blood flow (MBF) increases the likelihood of vaso-occlusion by increasing entrapment of sickled red blood cells in the microvasculature. Because those with SCD have dysautonomia, we anticipated that thermal exposure would induce autonomic hypersensitivity of their microvasculature with an increased propensity toward vasoconstriction. We exposed 17 patients with SCD and 16 control participants to a sequence of predetermined threshold temperatures for cold and heat detection and cold and heat pain via a thermode placed on the right hand. MBF was measured on the contralateral hand by photoplethysmography, and cardiac autonomic balance was assessed by determining heart rate variability. Thermal stimuli at both detection and pain thresholds caused a significant decrease in MBF in the contralateral hand within seconds of stimulus application, with patients with SCD showing significantly stronger vasoconstriction (P = .019). Furthermore, patients with SCD showed a greater progressive decrease in blood flow than did the controls, with poor recovery between episodes of thermal stimulation (P = .042). They had faster vasoconstriction than the controls (P = .033), especially with cold detection stimulus. Individuals with higher anxiety also experienced more rapid vasoconstriction (P = .007). Augmented vasoconstriction responses and progressive decreases in perfusion with repeated thermal stimulation in SCD are indicative of autonomic hypersensitivity in the microvasculature. These effects are likely to increase red cell entrapment in response to clinical triggers such as cold or stress, which have been associated with vaso-occlusive crises in SCD.

Neurologic Manifestations of Hematological Disease

2017 ◽  
Author(s):  
Bayat Elham
Keyword(s):  
Nervous System ◽  
Sickle Cell Disease ◽  
Peripheral Nervous System ◽  
Sickle Cell ◽  
Systemic Amyloidosis ◽  
Cell Disease ◽  
Hematological Disease ◽  
Hematologic Disorders ◽  
Plasma Cell Dyscrasias ◽  
The Brain

A wide sprectum of hematologic disorders affect the central and peripheral nervous system. These disorders include porphyria, thrombotic thrombocytopenic purpura-hemolytic uremic syndromes, sickle cell disease, plasma cell dyscrasias, monoclonal gammopathy, primary systemic amyloidosis, primary systemic amyloidosis, Waldonstrom’s macroglobulinemia, myeloproliferative syndromes, cryoglobulinemia, and polycythemia vera. Some, like porphyria, cause both central and peripheral nervous system manifestations including sensory/motor peripheral neuropathy, dysautonomia, pain, seizures, and abdominal pain. Others such as sickle cell disease primarily affect the brain and cause both clinically apparent strokes associated with a vasculopathy of large intracranial blood vessels, as well as less obvious microstrokes that cause progressive cognitive decline if not treated.

Red Cell Exchange in Sickle Cell Disease

Hematology ◽  
2006 ◽  
Vol 2006 (1) ◽  
pp. 48-53 ◽  
Author(s):  
Paul S. Swerdlow
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Acute Pain ◽  
Carrying Capacity ◽  
Chronic Treatment ◽  
Red Cell ◽  
Cell Disease ◽  
Acute And Chronic Treatment ◽  
Oxygen Carrying Capacity ◽  
The Right

Abstract Red cell exchange transfusions remain an effective but possibly underutilized therapy in the acute and chronic treatment of sickle cell disease. In sickle cell disease, increased blood viscosity can cause complications when the hemoglobin exceeds 10 g/dL even if this is due to simple transfusion. Red cell exchange can provide needed oxygen carrying capacity while reducing the overall viscosity of blood. Acute red cell exchange is useful in acute infarctive stroke, in acute chest and the multi-organ failure syndromes, the right upper quadrant syndrome, and possibly priapism. Neither simple or exchange transfusions are likely to hasten resolution of an acute pain episode.

scholarly journals Splenic Syndrome in a Young Man at High Altitude with Undetected Sickle Cell Trait

2017 ◽  
Vol 5 (2) ◽  
pp. 153-155 ◽  
Author(s):  
CHKA Fernando ◽  
S Mendis ◽  
AP Upasena ◽  
YJ Costa ◽  
HS Williams ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
High Altitude ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Carrier State ◽  
Splenic Infarction ◽  
Cell Disease ◽  
Rare Presentation ◽  
Abdominal Symptoms ◽  
Life Threatening

Introduction: Splenic syndrome is a rare presentation of sickle cell disease. It is important to rule out this possibility when an ethnically vulnerable patient presents with an acute abdominal symptoms in a background of precipitating events. Case Report: A 26-year-old man who developed a severe abdominal pain at high altitude, found to have a tender splenomegaly. However, further inquiry revealed he is from an area where sickle cell disease is prevalent. Screening for sickle cell disease was positive. Radiological investigations confirmed a massive splenic infarction keeping with a diagnosis of splenic syndrome. Patient was managed conservatively. Conclusion: Sickle cell trait is considered a benign carrier state. However, rarely they can present with life-threatening conditions. Therefore, a high degree of clinical suspicion is required for early diagnosis of these specific entities to avoid increased morbidity and mortality of these patients.

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