Biomedical subjects
Publications and source records attributed to A M Batenburg-Plenter.
Isovaleric acidaemia was diagnosed in a 9-year-old girl with an unusual clinical presentation. She was severely mentally retarded, had an extreme growth retardation, bilateral cataracts, multiple fractures of the long bones, vitium cordis and malformations of the head. Frequent infections occurred since early childhood. The relevance of these findings is discussed.
Simple clinical testing procedures, devised by Sheridan, to test visual functions in young and/or handicapped children are discussed. Using these methods, combined with experience obtained in studying visuo-motor behaviour in cats, vision was tested in 30 severely mentally handicapped children. For 17 of these, it was unclear whether they possessed any usable visual functions. For 29 out of the 30 tested children it was possible to reach a reasonably confident conclusion regarding presence or absence of functional vision. Thirteen patients appeared to be functionally blind. In 17 children the size of the visual field could be determined; 7 showed normal, 10 restricted visual fields. In 6 children acuity could be measured. The importance of early detection of visual defects is discussed.
A diminished chemotactic response was observed with the neutrophils of a patient with the Chediak-Higashi syndrome, who was not in the accelerated phase of the disease. An abnormally low release of myeloperoxidase from these cells during phagocytosis was also noted; this resulted in a decreased iodination capacity and probably also caused the defect in the intracellular killing of bacteria by the neutrophils. The level of cyclic AMP in these cells was elevated, but decreased after treatment with ascorbate either in vitro or in vivo. During ascorbate therapy, the bactericidal activity of the neutrophils normalized, whereas the chemotactic response remained low. Nevertheless, the patient had significantly less infections during ascorbate therapy. The bleeding tendency, due to a storage-pool disorder of the Chediak-Higashi platelets, was unaffected by treatment with ascorbate. The patient's lymphocytes did not display any activity in antibody-dependent lymphocytotoxicity. This defect was not affected by treatment with ascorbate either.
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