1/8. Immune thrombocytopenic purpura associated with brucella and toxoplasma infections.Bacterial and protozoal infections can cause thrombocytopenia and may mimic idiopathic thrombocytopenic purpura (ITP). brucella species and toxoplasma are among the infectious agents with protean clinical manifestations which may induce immune thrombocytopenia. In rare cases, thrombocytopenia can be severe and may result bleeding into the skin and from mucosal sites. Prompt recognition of this complication and aggressive therapy are essential, since the mortality associated with bleeding into the central nervous system is high. We report two patients with complaints of severe epistaxis and thrombocytopenia associated with brucellosis and toxoplasmosis. Thrombocytopenic purpura in these cases responded well to the high-dose corticosteroid treatment with platelet recovery within 2-3 days. For cases with infection-induced immune thrombocytopenic purpura, short-term high-dose corticosteroids may be applied as an urgent therapy without worsening of the clinical condition.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/8. Clinical and molecular findings in IPEX syndrome.IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively are reported.- - - - - - - - - - ranking = 1.0126447637879keywords = childhood (Clic here for more details about this article) |
3/8. Long-term plasmapheresis therapy is effective and safe in children with chronic relapsing dysimmune polyneuropathy.Since childhood, two persons, a boy age 12 and a girl age 24 years, with chronic relapsing dysschwannian neuropathy causing severe limb weakness have been maintained on frequent plasmapheresis for more than 8-1/2 and 9 years respectively. They are totally dependent on it. Onset of disease was at ages 2-1/2 and 9 years. Both patients had had major relapses, some requiring ventilatory support, despite continued maximally-tolerated pharmacologic antidysimmune treatment. plasmapheresis was started in August 1980 and December 1979, respectively. The current schedule is a set of 3 in one week at eight-week intervals for patient 1 and twice every 7-10 days for patient 2. They have had more than 330 and more than 1,100 phereses respectively. Since beginning phereses, neither has had a major relapse, and both are functional in their daily life as students, although with slight and moderate residual weakness respectively. The dependence of these 2 patients on regular pheresis for the last 8-1/2 and 9 years proves its efficacy and safety in children. Long-term maintenance pheresis may be beneficial in patients with other forms of chronic dysimmune neuropathy.- - - - - - - - - - ranking = 1.0126447637879keywords = childhood (Clic here for more details about this article) |
4/8. New methodologies. Their role in pediatric pathology.Recombinant dna technology is providing the means for early and specific etiologic diagnoses of infectious and immunologic diseases, replacing or complementing older methodologies. The new tools that have been so useful in detecting gene rearrangements in leukemias and lymphomas are being applied to the unresolved questions of embryogenesis and disorderly cell differentiation and are being used to completely re-map the nervous system. flow cytometry and cell sorting are becoming standard features of clinical laboratories and are instrumental not only in defining alterations in lymphoid cell populations but in examining cellular functions as well as surface markers. bone marrow and organ transplantation for genetic, metabolic, and neoplastic diseases will be performed much more effectively as these newer technologies are applied to the selection of compatible donors and to the follow-up of rejection and infectious complications.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
5/8. keratitis, ichthyosis, and deafness (KID) syndrome with cerebellar hypoplasia.A 6-year-old boy with features of the keratitis-ichthyosis-deafness (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with cerebellar hypoplasia. This finding, together with neurosensory deafness and other neuromuscular defects, may suggest that there is an underlying inborn error of nervous system in the KID syndrome. in vitro immunologic studies in this patient also showed a possible deficit in cellular immunity.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
6/8. Critical neurologic illness in the immunocompromised patient.Immunocompromised patients are vulnerable to a host of neurologic problems that may complicate their clinical course and necessitate intensive care. Atypical and opportunistic infections represent the primary concern in such patients and can cause a variety of neurologic complications. In addition, these patients are susceptible to neurologic dysfunction induced by drugs or underlying disease states. This article emphasizes the diagnostic approach to selected clinical syndromes in the immunocompromised patient, such as encephalopathy, seizures, and stroke.- - - - - - - - - - ranking = 4.1691851022925keywords = neurologic (Clic here for more details about this article) |
7/8. Griscelli's syndrome: clinical features of three siblings.Three siblings diagnosed as having Griscelli's syndrome (GS) are presented. The clinical features were partial albinism, silvery hair and absence of giant granules in the white blood cells. The diagnosis of GS was confirmed intra-vitam in the youngest sibling (propositis) at the age of nine months by the demonstration of irregular clumps of pigment in the hair shaft, and in particular melanocytes engorged with melanosomes in the skin biopsy, findings characteristic of this syndrome. A retrospective diagnosis of GS was made in the older two siblings. The first sibling died at the age of two, having a clinical picture suggestive of bulbar poliomyelitis. However, no tissue was available for histopathologic examination. The second sibling developed fever, jaundice, seizure, hepatosplenomegaly and lymphadenopathy and died at the age of six. Postmortem examination of this sibling revealed lymphohistiocytosis in the liver and spleen. The propositus died at the age of five following development of central nervous system involvement. Immunologic studies were not available in the first sibling. The IgG level was slightly low and the T-lymphocyte number was normal in the second sibling. The propositus had normal serum immunoglobulin levels and T-cell numbers and skin tests were positive with phytohemagglutinin and candida.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
8/8. macrophage activation syndrome and rheumatic disease in childhood: a report of four new cases.A macrophage activation syndrome (MAS) developed in four children with chronic rheumatic diseases. The presentation included fever, hepatic and splenic enlargement, profound depression of blood counts, lowering of ESR, elevation of SGOT/PT and hypofibrinogenemia. The most characteristic sign of MAS was the presence in the bone marrow aspirate of well differentiated macrophages showing active haemophagocytosis with haematopoietic elements in their cytoplasm. Activation of the macrophage was also illustrated by high levels of monokines in the serum of 2 patients. This immuno-hematological process of unknown etiology can be triggered by ubiquitous events such as infections and treatment with anti-inflammatory drugs. It is a potentially lethal complication which should be diagnosed rapidly, since administration of high-dose steroids with discontinuation of potentially toxic drugs can induce remission. Cyclosporin A was effective in two patients and may be of value in the management of the macrophage-activation syndrome. Its efficacy supports the central involvement of a T-cell dysfunction. It must be borne in mind that children with rheumatic diseases, especially the systemic form of juvenile chronic arthritis, are highly vulnerable to life-threatening macrophage activation, which appears to be more frequent than previously recognized. Very careful monitoring of apparently "innocent" drugs and intercurrent viral infections is thus required.- - - - - - - - - - ranking = 4.0505790551515keywords = childhood (Clic here for more details about this article) |