Pneumatosis intestinals in the neonate.
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Bone marrow transplantation is increasingly used in children to treat refractory malignant neoplasms, immunodeficiency syndromes, and hematopoietic and genetic disorders. In preparation for the transplantation, patients receive high doses of chemotherapeutic agents and total-body irradiation to destroy residual malignant cells or dysfunctional marrow and to prevent rejection of the graft. A variety of abdominal and pelvic complications may occur after transplantation because of pancytopenia, the direct toxic effects of the preparative regimen, graft-vs-host disease, or immunosuppression. This essay illustrates the CT and sonographic appearances of these complications.
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OBJECTIVE: The purpose of our study was to reassess CT findings of cecal pneumatosis in patients with acute large-bowel obstruction due to colon cancer to determine whether this condition indicates transmural necrosis versus viable bowel and also whether other CT findings could be used to identify patients with transmural necrosis. CONCLUSION: CT findings of cecal pneumatosis do not always indicate transmural infarction in patients with acute large-bowel obstruction due to colon cancer. Cecal pneumatosis may be related to viable bowel when it displays a bubblelike pattern or when it is not associated with other findings of ischemia.
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Omenn syndrome (OS) is a rare disorder within the combined immunodeficiency family that is characterized by a diffuse exudative, erythematous rash, lymphadenopathy, hepatosplenomegaly, alopecia, and failure to thrive. Specific lab findings unique to OS include hypereosinophilia, elevated IgE, excess production of oligoclonal T-cells and near-to-absent B-cells. Much remains elucidated about the underlying genetic cause of OS. Until recently, it was felt that the disease was primarily caused by mutations of the RAG1 or RAG2 genes. The type of mutation of the RAG1 and RAG2 genes in patients with OS affects the degree of functioning variable (diversity) joining [V(D)J] recombination activity, which is critical to the development of lymphoid cell receptor diversity. New work has also shown that thymic tissue in OS patients demonstrates a severe defect in the expression of the autoimmune regulator element. This may contribute to the development of autoreactive T-cells that are felt to be the causative agent of a number of the clinical hallmarks unique to OS. The genetic spectrum of OS was further expanded when a patient with clinical and immunologic features consistent with OS, without RAG mutation, was found to have mutations in both alleles coding for ARTEMIS, a key V(D)J recombination/DNA repair factor. Regardless of the underlying cause, early recognition is critical because patients die at a very young age without bone marrow transplantation. We describe an infant diagnosed with OS post-mortem in which death was directly related to the development of necrotizing enterocolitis.
A patient with severe diarrhoea and gas-filled cysts in the wall of the colon is reported. The patient had normal lung function but an extremely high end-expiratory H2 fasting value. Treatment with an elemental diet for 2 weeks resulted in a decreased H2 value and in regression of the cysts. After 4 months on a normal diet extensive recurrence was observed. We conclude that excessive intestinal gas production may play a role in the pathogenesis of the cysts.
BACKGROUND: Pneumatosis cystoides coli (PCC) is a rare condition characterized by gas-filled cysts in the bowel wall. Our aim was to assess the response of PCC to treatment with an elemental diet. METHODS: Two patients with PCC were treated with an elemental diet. Both patients had experienced debilitating symptoms for at least a year and were unresponsive to other therapies. Elemental 028 comprises readily absorbed amino acids, fats, simple sugars, minerals, vitamins, and trace elements. After colonoscopically documented resolution at 2 weeks, low-residue foods were gradually added to the diet. RESULTS: Both patients' symptoms disappeared within 3-4 days of commencing the diet, and colonoscopy at 2 weeks confirmed complete resolution of the cysts. One patient relapsed with the introduction of high-residue foods and was again controlled within days by recommencing the elemental diet. CONCLUSION: An elemental diet can successfully treat both the initial presentation of PCC and any subsequent relapse.
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