1/9. Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 gaucher disease: a report of sibling cases.gaucher disease is a genetic lipid storage disease and represents a potentially serious health problem. It arises from a deficiency of glucocerebrosidase activity with secondary accumulation of large quantities of glucocerebroside. Symptoms are usually multisystemic, often debilitating or disabling, and sometimes disfiguring, and they can lead to death. We report objective clinical response's to repeated infusion of human placental and recombinant glucocerebrosidase in 2 patients with type 1 gaucher disease and increased hemoglobin levels and platelet counts. Splenic volume decreased during the period of enzyme administration. enzyme replacement therapy has improved the treatment of type 1 gaucher disease by safely and effectively arresting, decreasing, or normalizing many of its major signs and symptoms. Consideration by physicians must be given to gaucher disease, and appropriate treatments must be given when confronted with cryptogenic pancytopenia or hepatosplenomegaly.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/9. Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis.Griscelli syndrome (GS) is a rare inherited disease characterized by immunodeficiency and partial albinism. The microscopic findings of the skin and hair are highly suggestive of the disease. The GS locus colocalizes on chromosome 15q21 with the myosin-Va gene (MYO5a), and mutations have been identified in few patients. We describe a 2-month-old Hispanic girl with severe pancytopenia secondary to hemophagocytosis. Even though a mutation at the Griscelli locus had not been identified, her clinical features and outcome were typical of GS. The purpose of this article is to alert physicians to the association between GS and hemophagocytosis. We suggest that GS should be considered in infants with hemophagocytosis because the features of partial albinism can be subtle. The relevant literature is summarized.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/9. A case of factitious aplastic anemia.OBJECTIVE: We report the case of factitiously induced aplastic anemia by the ingestion of busulfan, a bifunctional alkylating chemotherapeutic agent used in the treatment of chronic myelogenous leukemia. The medical consequences and financial costs of this illness are reported. The reader will gain an understanding of the relevant clues to the diagnosis of a factitious hematologic illness, the psychodynamic issues present in this case and the legal, ethical and countertransferential issues raised by the case. METHOD: A single case review including medical and billing records, patient and staff interviews and literature review. RESULTS: The covert ingestion of busulfan by this patient resulted in life-threatening bone marrow suppression, bilateral aseptic hip necrosis, transfusion-dependent thrombocytopenia and a chronic pain syndrome. Her treatment was complicated by noncompliance with prescribed treatments and polymicrobial sepsis possibly secondary to the self-injection of feces into her central line. To date, the total cost of care for the treatment of this patient's medical complications secondary to her ingestion of busulfan exceeds $1,100,000.00. CONCLUSIONS: This case underscores the importance of the early recognition by the primary care physician of the possibility of a factitious etiology of hematologic abnormalities such as aplastic anemia due to the ingestion of bone marrow ablative medications. The index of suspicion is increased when the patient is a young health care provider, usually female, with atypical pancytopenia and an unusual disease course and response to treatment.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
4/9. gas gangrene secondary to clostridium perfringens in pediatric oncology patients.OBJECTIVE: To report 2 cases of severe gas gangrene secondary to clostridium perfringens in pediatric oncology patients. methods: We describe 2 children with acute presentations of gas gangrene secondary to C. perfringens. Both children were initially seen and treated in a community hospital emergency department and subsequently were cared for in a pediatric intensive care unit in a tertiary care, university-based children's hospital. RESULTS: Both children demonstrated severe and unrelenting decompensation and required operative intervention within the first hospital day, which included amputation of the infected limb. One child survived and one child expired despite heroic measures. CONCLUSIONS: gas gangrene secondary to C. perfringens is an uncommon but life-threatening and limb-threatening condition in pediatric cancer patients. A high index of suspicion in a immunocompromised child with cancer who presents with extremity pain in combination with neutropenia is the key to early diagnosis and may lead to improved survival. This disease requires prompt recognition and aggressive treatment to allow any hope of recovery. emergency medicine physicians who treat these children should be aware of this severe and potentially fatal infectious process and should not delay treatment or prompt orthopedic surgery consultation.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/9. pancytopenia, rash and fever caused by diethylstilbestrol used for prostate cancer.pancytopenia, rash, and fever developed in a 66-year-old man being treated for metastatic prostate cancer with diethylstilbestrol (DES). Only the withdrawal of DES resulted in the prompt resolution of symptoms, signs, and laboratory manifestations. Both immunologic and endocrinologic mechanisms are implicated and must be considered by physicians using DES for the palliative management of prostate cancer.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
6/9. A massive dose of vincristine.An esophageal cancer patient with bilateral lungs and neck lymph nodes metastases received 24 mg of vincristine instead of vinblastine because of the similarity between the two names, and survived multiorgan derangement. Serious states of central and peripheral neuropathy with muscle atrophy, gastrointestinal disorder, bone marrow suppression and mucocutaneous involvement were all encountered. Although hypotension and syndrome of inappropriate secretion of antidiuretic hormone (SIADH) were not observed as vincristine's side actions, toxicity to the myocardium, which has not been documented, was suggested in our case. These toxic impairments, however, subsided clinically within a month, except for paresthesia in the peripheral extremities. The effectiveness of the chemotherapy was remarkable against both the esophageal cancer and the metastatic lesions. No unintentional overdose of a drug, needless to say, should happen, and in order to minimize its possibility, it would be advisable for chemotherapy to be administered only by an experienced physician who is able to check the dose and concentration.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
7/9. A cautionary note regarding hydroxyurea in sickle cell disease.hydroxyurea can increase fetal hemoglobin (HbF) and improve the clinical course of sickle cell disease (SCD) patients. However, several issues of hydroxyurea therapy remain unresolved, including differences in patients' drug clearance, predictability of drug response, reversibility of sickle cell disease-related organ damage by hydroxyurea, and the efficacy of elevated HbF. We treated two patients with hydroxyurea for periods of 1 to 4 years, monitoring clinical course and laboratory parameters at regular intervals. The first patient (patient A) had a history of chronic pain and extensive hospitalizations. The second patient (patient B) had a history of stroke and refused to continue with chronic transfusion therapy and chelation. Both patients showed a fivefold to tenfold increase in HbF (5% to 25%, 3% to 31%). However, patient A developed an acute chest syndrome, despite an HbF level of 20%. After red blood cell transfusions for hypoxia, the HbF level decreased to 5%. When hydroxyurea dosage was increased, pancytopenia developed and was not resolved until 2 months after hydroxyurea was discontinued; Patient B developed a cerebral hemorrhage on hydroxyurea; he died shortly thereafter. His HbF level was 21% before death. We noted an increase in HbF and a general improvement in the two patients. However, both experienced major SCD-related complications despite HbF levels over 20%. Our findings also suggest that the progressive vascular changes associated with SCD are unlikely to be dramatically affected by increased HbF levels. Because neither the efficacy nor the toxicity of hydroxyurea have been thoroughly investigated, physicians should be cautious in prescribing hydroxyurea for patients with SCD before completion of the National clinical trial.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
8/9. Electron microscopic identification of parvovirus virions in erythroid and granulocytic-line cells in a patient with human parvovirus B19 induced pancytopenia.In this short report we describe a patient with human parvovirus B19 (HPV B19)-induced transient pancytopenia. parvovirus virions were seen by electron microscopy in both erythroid and granulocytic precursors. erythroid cells are not the only targets in these cases. We draw attention to this disorder so that physicians involved with hematological disorders and transplantation be more aware of this infection.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
9/9. azathioprine and allopurinol: the price of an avoidable drug interaction.OBJECTIVE: To report the price of a drug interaction between azathioprine and allopurinol that resulted in pancytopenia in a patient who had undergone a heart transplant. CASE SUMMARY: A 63-year-old white man who received an orthotopic heart transplant in 1987 was hospitalized in June 1991 with a diagnosis of pancytopenia. His immunosuppressive medications on admission included cyclosporine 125 mg bid, azathioprine (AZA) 200 mg/d, and prednisone 2.5 mg/5 mg every other day. Six weeks prior to admission, the patient's local physician prescribed allopurinol for left wrist pain suspected to be gout. It was determined that the pancytopenia was caused by the drug interaction between AZA and allopurinol, both of which were withheld on admission. During hospitalization, the patient's white blood cell count dropped to 1.1 x 10(3)/mm3 with an absolute neutrophil count of less than 0.5 x 10(3)/mm3, a platelet count of less than 20 x 10(3)/mm3, and a hemoglobin of 3.7 g/dL. Four units of packed red blood cells were transfused and regramostim (GM-CSF) therapy was begun on hospital day 3 to speed the marrow recovery process. The patient was discharged on hospital day 8 and AZA, which had been withheld since admission, was restarted. The dosage was titrated to 200 mg/d over the following 2 weeks. The price of this patient's hospital stay was $13,042. DISCUSSION: Not included in this price was the effect this drug interaction had on the patient's quality of life. Even after discharge from the hospital, it was estimated that it would take up to 3 months for the patient to fully recover his previous level of strength and functional capability. This interaction between AZA and allopurinol could easily have been avoided. Both the physician and the pharmacist missed this well-documented and potentially life-threatening drug interaction. Also, the patient failed to notify the transplant team when allopurinol was prescribed by his local physician. The importance of patient responsibility for medication therapy must be stressed to help avoid unnecessary drug interactions. CONCLUSIONS: Undetected drug interactions can be life-threatening to patients as well as costly to the healthcare system. drug interactions also can have a profound negative effect on the patients' quality of life, the price of which cannot be measured in dollars alone. It is vital that the physician, pharmacist, and patient work together to optimize therapeutic outcomes and avoid unnecessary drug interactions.- - - - - - - - - - ranking = 4keywords = physician (Clic here for more details about this article) |