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

Hepatic dysfunction occurs in up to 10% of patients with sickle cell crisis; however, hepatic failure is quite unusual. Cocaine hepatotoxicity has recently been recognized in humans with liver biopsies showing varying patterns of necrosis. Most patients reported with cocaine intoxication have rhabdomyolysis with renal failure, and half of the cases have been fatal. A patient with concomitant sickle cell crisis and cocaine intoxication presented with hepatic failure, coagulopathy, and encephalopathy. Transjugular liver biopsy showed focal areas of confluent necrosis and large areas of collapse. Cocaine intoxication should be considered in the differential diagnosis of hepatic failure in patients with sickle cell anemia.
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PMID:Sickle cell crisis and cocaine hepatotoxicity. 144 96

Virgil Sydenstricker was a member of a notable American family which included authoress Pearl S. Buck and the eminent epidemiologist Edgar Sydenstricker. Dr. Sydenstricker's contributions in the fields of hematology and nutritional disease are legion. His landmark work in sickle cell anemia characterized a definite symptom complex with specific hematologic findings and inheritance pattern. He wrote on the complications of malnutrition and attempted to delineate the specific effects of individual nutritional factors. Dr. Sydenstricker and his associate H. M. Cleckley first described the syndrome of niacin deficiency encephalopathy. Today, the syndrome is still occasionally reported. Niacin deficiency should be considered when unexplained acute confusional states or neurologic deficits occur in the setting of malnutrition, antituberculous drug use, or chronic partial nutritional deficiency with acute increase in metabolic demand.
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PMID:Virgil Sydenstricker: special reference to niacin deficiency encephalopathy. 304 84

We recently saw a 12-year-old black boy with known sickle cell disease who had been seen many times for abdominal pain thought to be secondary to a vasoocclusive crisis. The patient eventually was admitted, after a seizure and the onset of obtundation. The etiology of his acute encephalopathy remained unclear until bone films of his knees fortuitously revealed "lead lines." The patient was treated and did well subsequently. This case emphasizes the importance of considering other diagnoses when a sickle cell patient presents with a crisis.
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PMID:Lead toxicity masquerading as sickle cell crisis. 308 61

Acute lead encephalopathy has become a rare syndrome in the United States. Early recognition of the disease, with institution of specific chelation therapy, is critical in order to minimize mortality and morbidity. Lead intoxication, however, may mimic other more common diseases. We report an 8-year-old child with known sickle cell anemia who presented initially with findings suggestive of vaso-occlusive crisis but who deteriorated rapidly and was found to have severe lead poisoning. We present her hospital course and review the management of lead encephalopathy in detail.
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PMID:Lead encephalopathy. A case report and review of management. 398 68

The purpose of this report is to characterize the acute multiorgan failure syndrome that complicates some episodes of sickle pain. A retrospective chart review was used to identify episodes of sickle pain complicated by the acute failure of at least two of three organs: lung, liver, or kidney. The defining criteria of organ failure were established, and the clinical characteristics, laboratory values, treatment methods, and outcomes were noted in episodes that met the criteria. Seventeen episodes of acute multiorgan failure were identified in 14 patients, 10 with sickle cell anemia and 4 with hemoglobin SC disease. Most episodes occurred during a pain event that was unusually severe for the patient. The onset of organ failure was associated with fever, rapid fall in hemoglobin level and platelet count, nonfocal encephalopathy, and rhabdomyolysis. Bacterial cultures were negative in all but four episodes. Aggressive transfusion therapy was associated with survival and with rapid recovery of organ function in all but one episode. The syndrome developed in patients who had previously exhibited relatively mild disease with little evidence of chronic organ damage and relatively high hemoglobin values in steady state. Acute multiorgan failure syndrome is a severe, life-threatening complication of pain episodes in patients with otherwise mild sickle cell disease. The syndrome appears to be reversed with prompt, aggressive transfusion therapy. High baseline hemoglobin levels may represent a predisposing factor.
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PMID:Acute multiorgan failure syndrome: a potentially catastrophic complication of severe sickle cell pain episodes. 810

Our ability to identify cerebrovascular lesions in children has improved in recent years and with it our willingness to consider the diagnosis of cerebrovascular disease in children. Magnetic resonance angiography and other tests have made diagnosis easier and safer, particularly in very young children and in patients with sickle cell disease. Transcranial Doppler examination makes it possible to accurately predict without angiography which patients with sickle cell disease are at most risk for stroke. Many patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome have a specific mutation of the mitochondrial DNA, and soon the recently devised diagnostic criteria for MELAS syndrome may be replaced by molecular markers. There are many causes of cerebrovascular disease in children, and a thorough evaluation will discover a likely cause in about two thirds of the patients. Recent attention has focused on the HLA-B51 antigen and chicken pox as possible risk factors. Magnetic resonance imaging is also helpful in assessing the prognosis of children with cerebrovascular disease or head trauma.
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PMID:Cerebrovascular disorders and trauma in children. 812 17

The case histories of two patients with sickle cell disease and gram negative sepsis complicated by encephalopathy and hypertension is presented. The first patient had 2 episodes of "hypertensive encephalopathy" before control of her blood pressure was achieved while the second patient had only one. The occurrence, though apparently rare, can have serious implications. Possible mechanisms are discussed and the need to monitor the blood pressure of children with sickle cell disease is stressed.
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PMID:Acute encephalopathy, hypertension and gram negative sepsis in sickle cell disease. 831 20

Physicians must be able to recognize stroke caused by a mendelian or mitochondrial disorder. Some genetic disorders such as sickle cell anemia and Fabry disease have proven disease-specific treatments, whereas others have no effective treatment, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Proper diagnosis of a genetic disorder has prognostic value and prevents patient exposure to unnecessary and potentially harmful therapeutic agents and diagnostic tests. This article reviews the clinical and genetic features of some mendellan and mitochondrial disorders associated with ischemic stroke, hemorrhagic stroke, and cerebrovascular malformations.
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PMID:Genetics of cerebrovascular disorders. 1566 40

Very few cases of liver transplantation in patients with sickle cell disease have been reported in peer-reviewed literature. We reviewed the medical records of two patients with sickle cell disease that received liver transplantation at our institution. The first patient was a 27-year-old female who presented with encephalopathy and cholestatic jaundice with a Hemoglobin S (HbS) level of 69.6%. She was diagnosed with acute sickle cell intrahepatic cholestasis. The second patient was a 26-year-old female with sclerosing cholangitis who presented with encephalopathy, bleeding, and cholestatic jaundice. Her HbS level was normal. Both patients underwent liver transplantation successfully but died in the postoperative period from multiorgan failure. We report a rare case of liver transplantation for acute sickle cell intrahepatic cholestasis and a novel case of transplantation in a patient with sickle cell disease and sclerosing cholangitis. Liver transplantation did not lead to a successful outcome in either case.
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PMID:Liver transplantation in sickle cell anemia: a case of acute sickle cell intrahepatic cholestasis and a case of sclerosing cholangitis. 1637 35

Monogenic causes of stroke are rare but should not be missed by the neurologist. The purpose of this review is to aid the reader in the evaluation of a patient with cryptogenic stroke with or without a family history suspicious for an inherited condition. The clinical findings, diagnosis, and management of monogenic causes of stroke and stroke look-alikes are discussed, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry's disease, vascular Ehlers-Danlos, Marfan syndrome, sickle cell disease, the thrombophilias, hereditary hemorrhagic telangiectasia, cerebral cavernous malformations, hereditary cerebral hemorrhage with amyloidosis, and mitochondrial encephalopathy, lactic acidosis, and strokelike episodes. A quick review of systems designed to screen for genetic stroke causes is presented. By correlating stroke subtype with phenotype, this review will familiarize the clinician with indications for focused genetic testing in appropriate patients.
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PMID:Single-gene stroke disorders. 1647 42


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