Fetoscopy and fetal blood sampling were performed in an attempt at prenatal monitoring of a pregnancy at risk for infantile hereditary agranulocytosis (Kostmann's disease). In smears of fetal blood three segmented neutrophils were found out of 200 nucleated cells (1 1/2 per cent). Their presence, although in a lower percentage than in six age-matched controls, was considered to indicate that the fetus was not affected. The newborn infant has developed normally and at the age of four months has a normal number of segmented neutrophils in his peripheral blood. Feasibility of prenatal diagnosis of infantile hereditary agranulocytosis is discussed.

Adult↗

PubMedDate not supplied

Ring 18 chromosome with mental retardation, hemidysmorphism, and mitochondrial encephalomyopathy.

A 2 1/2-year-old female is reported with ring 18 chromosome syndrome. The chromosomal abnormality was found in all examined leukocytes and cultured skin fibroblasts. Besides the usual clinical characteristics of this syndrome, two additional features are described that have not been reported previously: right hemidysmorphism, including hypertrophy of the tongue and lower extremity; coloboma of the lower right side of the gums; atretic external right ear canal; and hypotonia with mitochondrial encephalomyopathy associated with excessive ketonemia during normal food intake and a large increase after overnight fast.

Brain Diseases↗

PubMedDate not supplied

XX/XY lymphoid chimerism in a boy with fatal lymphohistiocytic proliferation.

XX/XY chimerism, present in peripheral blood and bone marrow cells, but absent in other somatic tissues, was demonstrated in a 6-year-old patient. The initial clinical presentation with "butterfly" rash, pancytopenia with a hemolytic component, and hypergammaglobulinemia was suggestive of an immune disorder. Infiltration of skin, bone marrow, and lymph nodes with histiocytes, without disruption of the general configuration, was similar to the findings in familial lymphohistiocytosis. The results of specific cellular markers and of cytogenetic and immunologic studies are analyzed and the nature of the disease and origin of the chimeric state are discussed. The most likely explanations include a chronic graft-vs-host reaction induced by proliferation of foreign lymphoid cells derived from a blood transfusion that the child had received during infancy, or proliferation of neoplastic cells present in the transfused blood.

Child↗