Biomedical subjects
Publications and source records attributed to S D Macfarlane.
A mother with phenylketonuria and hyperphenylalaninaemia of 960 mumol/L with four intellectually deficient offspring is described. In addition a mother with hyperphenylalaninaemia of 2100 mumol/L and two intellectually deficient microcephalic children is described. None of the affected children exhibited elevations of blood phenylalanine. In utero phenylalanine toxicity was considered a factor causing the handicaps.
A temporal cluster of four cases of transient childhood erythroblastopenia is described. In all cases there was an associated transient neutropenia and in one case a transient mild thrombocytopenia. In all cases reticulo-endothelial iron overload was a prominent feature but there was no evidence of a pre-existing chronic haemolytic state. All children made a full recovery with only supportive treatment, although in three cases blood transfusion was necessary.
Bone marrow necrosis has been regarded as an indicator of very poor prognosis in malignant disease. The cause and incidence are unknown, and reports of treatment response are few. We describe four children with marrow necrosis at presentation with acute lymphocytic leukemia (ALL), all of whom entered remission with standard treatment showing complete marrow healing. The bleak outlook for patients with marrow necrosis based on early experience in adults with disseminated malignancy does not appear to apply to children with ALL. The incidence of marrow necrosis at diagnosis of childhood ALL is 1%.
A technique for examining relatively large volumes of bone marrow for involvement by malignancy is described. The use of discontinuous Percoll gradients offers no advantage over conventional methods in the diagnosis of hematological malignancy. Its usefulness in detecting infiltration by solid tumor is uncertain. Complete exclusion of malignancy from the fraction containing hematologic stem cells in three patients raises the possibility that this technique is a useful adjunct to other methods of marrow purging before autologous marrow rescue in malignant disease.