Chronic granulomatous disease: a new clinical variant.
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Biomedical subjects
Publications and source records attributed to M Berant.
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A 6-month-old full-term infant had severe anemia and neutropenia. The patient was being fed cow's milk and a diet of corn flour. Thorough investigation revealed low serum iron concentration, severe hypocupremia, low ceruloplasmin, retardation of bone age, and metaphysial irregularities and spurring. Bone marrow aspirate revealed cytoplasmic vacuolization in precursors of the erythroid and myeloid series and ringed sideroblasts. Therapy with oral iron, folic acid, and vitamin C was futile. Administration of copper sulfate resulted in brisk increase in neutrophils and reticulocytes. The child maintained normal levels of hemoglobin, neutrophils, serum copper and ceruloplasmin, and serum iron one year after copper therapy was discontinued. The probable role of unrecognized copper deficiency in causing anemia in infants more than 6 months of age is discussed, and the importance of serum copper examination in refractory iron deficiency anemia and neutropenia is stressed. To the best of our knowledge, no such case has previously been described in the literature.
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We describe five children in whom symptoms and signs fully consistent with a diagnosis of acute rheumatic fever arose in association with infection by Mycoplasma pneumoniae. With the decline of streptococcal disease as a causative agent of acute rheumatic fever, other etiologic possibilities capable of reproducing the clinical syndrome - especially Mycoplasma pneumoniae - should be considered, as this may have therapeutic and prognostic implications.
Different rates of renal involvement in the Henoch-Schönlein syndrome have been reported in the literature. We assessed renal involvement during the initial attack of this disease in 71 children in northern Israel, and reevaluated 69 of them after an interval of one to eight years. The mean age at onset was higher than in other reports, and there was a clustering of cases in the late summer and early autumn. During the acute phase of the illness, involvement of the kidney was apparent in only seven patients (9.8%), and only one of these (1.4% of those followed up) showed evidence of continuing renal damage. Patients without initial renal involvement did not subsequently develop renal disease. The remarkably low rate of acute and continuing renal damage in our study as compared with other reports may stem from local variations in causative factors. In our experience, long-term follow-up beyond one year seems warranted only in those patients who had renal involvement during the initial attack.
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We report a 10-year-old boy who has Fanconi's anemia and was admitted because of acute hemiplegia of the left side. Internal carotid arteriography disclosed a moyamoya cerebrovascular pattern on the right side. Although this condition may be acquired, it is suggested that in this case the moyamoya might pertain to the array of congenital malformations associated with Fanconi's anemia. Intracranial accidents occurring in Fanconi's anemia are generally ascribed to the bleeding tendency; however, the possibility of an underlying vascular anomaly should also be considered.
Hematogenous Candida osteomyelitis is described in a two-month-old infant, as a complication of Candida septicemia which occurred during a parenteral hyperalimentation regimen. Treatment with flucytosine led to full recovery. The scarcity of reports on hematogenous Candida osteomyelitis in infants, despite an increased incidence of Candida septicemia, and the non-specific symptomatology which the disease may assume in this age group, indicate the need for greater awareness of this complication. Flucytosine is an antifungal drug which can also be given by mouth and carries relatively low toxicity. We found flucytosine to be extremely effective in the treatment of disseminated infantile Candida osteomyelitis.
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A case of transomental strangulation in an 8-yr-old boy is presented with a review of the pertinent literature. The clinical presentation was that of an intestinal obstruction. A gastrografin study indicated the necessity of immediate surgery. Etiologic aspects and nomenclature controversies are briefly discussed.
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