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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We examined the impact of discrete white matter lesions in the frontal lobes on event-related potential (ERP) correlates of performance monitoring. We tested the hypothesis that abnormal performance monitoring may result from injury to white matter without evidence of injury to grey matter in the frontal lobes. It was predicted that such lesions may result in disconnection of the lateral and medial frontal cortices. The close interaction of these two areas has been implicated in performance monitoring. Two fast-choice response tasks were administered to patients with MRI-confirmed frontal white matter lesions due to sickle cell disease (SCD) vasculopathy (n = 11; age = 11-23 years; 6 unilateral left lesions and 5 bilateral lesions) and two control groups: SCD patients without brain lesions and non-sickle cell sibling controls (n = 11 each). Stimulus-locked ERP components N2 and P3 were not significantly affected by presence of lesions. The difference between response-locked components to correct trials (correct-response negativity--CRN) and erroneous trials (error-related negativity--ERN) was diminished in patients with unilateral and bilateral frontal white matter lesions. This finding was due to a significantly attenuated ERN amplitude in lesion patients compared with both sibling and non-lesion control groups. These ERP findings were not due to performance differences between groups and hence reflect a compromised neural substrate underlying performance monitoring. The latter may also contribute to the deficits in executive function tasks observed in these patients. As disruption to ERP markers of error processing was found in the absence of lesions to the lateral or medial frontal cortex, we conclude that a functional connection between these areas facilitates performance monitoring, possibly implemented via tracts traversing the deep frontal white matter.
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PMID:Impact of frontal white matter lesions on performance monitoring: ERP evidence for cortical disconnection. 1681 74

Extramedullary haematopoiesis (EMH) is a reactive mechanism by which blood cells are produced outside of the bone marrow to supplement insufficient production or increased destruction of erythrocytes. EMH is uncommon in sickle cell anaemia (SCA). We report the first case of focal intra-hepatic EMH in SCA depicted on MRI occurring in a 32-year-old woman with homozygote SCA and in view of previously published data, highlight the diagnostic features suggesting a differential diagnosis with other focal liver lesions including infectious, inflammatory or primary liver tumors.
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PMID:MRI features of intrahepatic extramedullary haematopoiesis in sickle cell anaemia. 1720 73

Orbital wall infarction and subperiosteal haematomas are unusual manifestations of sickling disorders. Here we report an 11-year-old girl with sickle cell anaemia having multiple skull infarctions including the orbital bony structures associated with subperiosteal haematomas. The diagnosis was made by MRI, which showed bone marrow changes and associated haemorrhagic collections. The patient was successfully managed without surgical intervention.
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PMID:Orbital wall infarction mimicking periorbital cellulitis in a patient with sickle cell disease. 1729 19

Transcranial Doppler ultrasound is a noninvasive vascular assessment technique proved useful in the management of pediatric disorders predisposed to stroke and may have similar utility for Sturge-Weber syndrome. Eight children with Sturge-Weber syndrome had velocities measured in the major cerebral arteries via the Stroke Prevention Trial in Sickle Cell Anemia methodology. Velocities and pulsatility indexes were compared between the unaffected and affected sides. All subjects had reduced velocity on the affected side; the mean middle cerebral artery percentage difference was 20% (95% CI, 15%-25%). Pulsatility index was increased on the affected side; mean middle cerebral artery pulsatility index percentage difference, 34% (95% CI, 15%-53%). Six subjects also had reduced posterior cerebral artery velocity on the affected side. Side-to-side differences in middle cerebral artery and posterior cerebral artery velocities correlated with severity of MRI asymmetry (Spearman rho = 0.88, P = .02). Decreased arterial flow velocity and increased pulsatility index in the middle cerebral artery and posterior cerebral artery suggests a high resistance pattern that may reflect venous stasis and may contribute to chronic hypoperfusion of brain tissue. Further study of Transcranial Doppler in children with Sturge-Weber syndrome is indicated.
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PMID:Transcranial Doppler ultrasound in children with Sturge-Weber syndrome. 1805 93

An 18-year-old boy was admitted to the hospital for a right leg ulcer, which appeared 1 year ago. After physical and hematologic examinations, he was referred for neurologic and cardiologic examination because his hemoglobin analysis and hematologic findings were interpreted as being consistent with sickle cell anemia. Although he had no neurologic symptoms, MRI and Tc-99m ethyl cysteinate dimer cerebral perfusion single photon emission computer tomography were performed to rule out a silent cerebral infarction. Changes secondary to an infarct were seen in the region of the caudate nucleus.
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PMID:Sickle cell disease with regional silent cerebral infarction detected by SPECT. 1807 16

Sickle cell disease (SCD) is an autosomal, recessive hemoglobinopathy characterized by hemolytic anemia, intermittent occlusion of small vessels leading to acute and chronic tissue ischemia, and organ dysfunction. Red blood cell transfusions are a therapeutic mainstay in SCD and repeated transfusions can result in iron overload. Endocrine dysfunction is the most common and earliest organ toxicity seen in subjects with chronic iron-induced cellular oxidative damage and can be seen in those without clinical evidence of iron overload. The predicted risks of iron overload and endocrine organ failure increase with both the duration of disease requiring transfusion therapy and the number of transfusions. Assessing the state of iron-overload in patients with SCD constitutes a diagnostic challenge because of the unreliability of serum ferritin levels and the risks associated with liver biopsy. In turn, MRI is the preferred noninvasive screening tool for iron overload. This article describes the endocrine and metabolic disorders reported in patients with SCD, discusses their management, and identifies gaps in current knowledge and opportunities for future research.
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PMID:Therapy insight: metabolic and endocrine disorders in sickle cell disease. 1821 12

Sickle cell disease (SCD) is associated with increased risk of stroke and cognitive impairment. This study describes a retrospective review of 65 patients who underwent routine neuropsychological testing and MRI during treatment at a comprehensive sickle cell center. It was hypothesized that (1) children with no evidence of CVA would perform lower than expected on cognitive tasks compared to population-based normative data, (2) children with strokes and children with silent infarcts would perform lower on cognitive tasks and motor skills as compared to patients with no evidence of CVA, and (3) children with evidence of silent infarcts would perform better than children with known overt strokes. This final hypothesis has not been studied previously, as children with known overt stroke and silent infarct were grouped together. Sixty-five children with SCD who were sent for routine neuropsychological testing and brain MRI were identified via retrospective chart review. Patients had been administered neuropsychological tests to assess cognitive, executive and motor function. Brain MRI was obtained from each patient and was analyzed for evidence of cerebrovascular accident (CVA). Based on MRI analysis, 27% of patients with SCD had experienced a stroke and 13% a silent infarct. The majority (59%) of patients diagnosed with stroke or infarct sustained cortical damage to the frontal lobe. Patients with SCD and no evidence of CVA functioned normally on tests of cognitive ability and achievement, but patients with CVA displayed impairments in cognitive function and comparatively lower scores on verbal and performance scales. Neuropsychological testing can identify impairments in patients with SCD with no known cerebrovascular accident. Investigations of neurocognitive functioning will help characterize patterns of deficits and can inform the ability to implement comprehensive care strategies for patients with SCD and cognitive impairment.
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PMID:Detection and assessment of stroke in patients with sickle cell disease: neuropsychological functioning and magnetic resonance imaging. 1856 43

R2* magnetic resonance imaging (R2*-MRI) can quantify hepatic iron content (HIC) by noninvasive means but is not fully investigated. Patients with iron overload completed 1.5T R2*-MRI examination and liver biopsy within 30 days. Forty-three patients (sickle cell anemia, n = 32; beta-thalassemia major, n = 6; and bone marrow failure, n = 5) were analyzed: median age, 14 years, median transfusion duration, 15 months, average (+/-SD) serum ferritin 2718 plus or minus 1994 ng/mL, and average HIC 10.9 plus or minus 6.8 mg Fe/g dry weight liver. Regions of interest were drawn and analyzed by 3 independent reviewers with excellent agreement of their measurements (intraclass correlation coefficient = 0.98). Ferritin and R2*-MRI were weakly but significantly associated (range of correlation coefficients among the 3 reviewers, 0.41-0.48; all P < .01). R2*-MRI was strongly associated with HIC for all 3 reviewers (correlation coefficients, 0.96-0.98; all P < .001). This high correlation confirms prior reports, calibrates R2*-MRI measurements, and suggests its clinical utility for predicting HIC using R2*-MRI. This study was registered at www.clinicaltrials.gov as #NCT00675038.
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PMID:R2* magnetic resonance imaging of the liver in patients with iron overload. 1926 77

The association between sensorineural hearing loss and sickle cell disease has been described, and labyrinthine hemorrhage has been reported with sickle cell disease. We report the CT and MRI findings of labyrinthitis ossificans in a child with sickle cell disease who presented with sensorineural hearing loss. Labyrinthitis ossificans is associated with an infectious, inflammatory, or destructive insult to the membranous labyrinth; however, it has not been specifically described with sickle cell disease. Recognition of this condition is important because it affects both management and prognosis of this disease.
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PMID:Labyrinthitis ossificans in a child with sickle cell disease: CT and MRI findings. 1941 52

Silent infarcts have been reported most commonly in school-aged children with homozygous sickle cell disease (SCD-SS) and are associated with neurocognitive deficits. However, the prevalence of silent infarcts in younger children with SCD-SS is not well defined. In this retrospective study, brain magnetic resonance imaging and angiography (MRI/A) studies performed before 6 years of age in a cohort of children with SCD-SS were analysed and the prevalence of abnormalities was calculated. Clinical and laboratory parameters were compared between the groups with and without silent infarcts. Sixty-eight of 96 children in the cohort had brain MRI/A performed prior to age 6 years. Of the 65 who were neurologically asymptomatic, 18 (27.7%, 95% CI 17.3-40.2%) had silent infarcts (mean age 3.7 +/- 1.1 years, range 1.3-5.9 years). Factors associated with silent infarcts included cerebral vessel stensosis by magnetic resonance angiography, lower rates of vaso-occlusive pain and acute chest syndrome and lower haemoglobin levels. The prevalence of silent infarcts in young children with SCD-SS is similar to that of older children and anaemia and severe vasculopathy may be risk factors.
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PMID:Silent infarcts in young children with sickle cell disease. 1950 Jan 5


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