Three unrelated, Caucasian patients with a disorder resembling infantile genetic agranulocytosis have been studied. There was no history of consanguinity. Parents and siblings were normal. Onset occurred before 3 weeks of age and persisted throughout life. All had severe neutropenia, myeloid arrest pattern of the bone marrow, eosinophilia, monocytosis and hyperglobulinemia. Other congenital anomalies were not present. Their clinical courses were characterized by recurrent, severe bacterial infections particularly of the skin, mouth and lungs but without bacteremia. The infections responded to, but were not prevented by antibiotics, which were administered almost continuously. Fungal infections did not occur and viral infections were not severe. Splenectomy and corticosteroids were without apparent benefit. Relative, though transient, neutrophilia occurred during a few episodes of infection. Chromosome analysis was normal in two of the patients. In one, maturation of neutrophilic leukocytes was not observed in cultures of bone marrow to which normal serum or cysteine was added. One boy is living at 14 10/12 years of age, and one died at 13¾ years of disseminated infection. A unique occurrence was the development of terminal acute leukemia (monocytic) in the third patient, a girl at the age of 14¼ years.
SUMMARY Left ventricular performance was determined by echocardiography in 44 black children with homozygous sickle cell anaemia and a control group of 28 normal black children of comparable age. Statistically significant differences were observed between the children with sickle cell anaemia and the normal group in left ventricular ejection fraction (sickle cell anaemia group: 0-59 + 0.01 [mean + standard error of the mean] vs. normal group: 0-65 + 0.01), cardiac index (5.3 + 0 3 vs 4-2 + 0 3 1/min per i2), mean circumferential fibre shortening velocity (116 + 0 04 vs 1-31 + 0.03s-1) and the percentage of shortening of left ventricular minor axis dimension (32.5 + 1 vs 36-7 + 0.8). The children with sickle cell anaemia were divided into two groups according to the absence or presence of dyspnoea and/or fatigue on moderate effort; though both groups had the same degree of anaemia, significantly depressed left ventricular performance indices were observed only in the group of symptomatic patients. All asymptomatic children with sickle-cell anaemia had uncompromised left ventricular performance.These findings indicate that left ventricular dysfunction is present in a significantproportionofchildren with sickle cell anaemia. The extent of the left ventricular dysfunction, is not related to the degree of anaemia or the percentage of fetal haemoglobin. Since many of the symptoms, physical signs, and radiological findings of severe anaemia resemble those ofcongestive heart failure, echocardiographic examination of symptomatic children with homozygous sickle cell anaemia is useful in detecting the presence of left ventricular dysfunction.Children and adults with homozygous sickle cell with the tendency of the sickle cells to occlude small anaemia frequently present evidence of cardio-vessels in the systemic, pulmonary (Moser et al., vascular system abnormalities (Klinefelter, 1942;1960), and coronary circulation (Oliveira and
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