Visual loss due to cerebral infarcts in pseudoxanthoma elasticum.
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Biomedical subjects
Publications and source records attributed to M E Lipton.
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Heparin-induced thrombocytopenia is an infrequent complication of heparin which causes thrombocytopenia and thrombosis. The vascular radiologist can expect to come across several cases in his/her career. A high index of suspicion is required for early diagnosis. This may befall the radiologist who is asked to provide thrombolytic treatment in a heparinized patient. We present such a case and discuss the clinical presentation, pathogenesis and management of heparin-induced thrombocytopenia.
A 10-year-old white female who had received a bone marrow transplant (BMT) at 57 months of age as treatment for late infantile onset metachromatic leukodystrophy (MLD), a neurodegenerative autosomal recessive storage disease, showed stabilization of the cognitive degenerative process and demonstrated a partial pattern of cognitive deficits and behavioral abnormalities that has been called NLD (nonverbal learning disabilities) associated with white matter disease. A pattern of good rote memory, reading skills, and concrete language contrasted with poor visual spatial skills, mathematics, and abstract problem solving. She did not show the usual speech prosody and social deficits associated with NLD.
A fistula between the superior vena cava and right main bronchus due to a malpositioned central venous line is described. The diagnosis was suggested by the signs on a chest radiograph and confirmed at bronchoscopy.
The lumbar spine radiographs of 400 orthopaedic outpatients were reviewed to determine if the absence of the coned lateral lumbosacral junction radiograph would lead to a loss in diagnostic accuracy. In 84 (21%) patients the antero-posterior and lateral lumbar spine radiographs failed to visualize adequately the lumbosacral junction. In these patients the coned lateral lumbosacral junction radiograph resulted in 17 (4.5%) diagnoses which would otherwise have been missed. The diagnoses were spondylosis (11), spondylolisthesis (3), spondylolysis (1), Paget's disease (1) and infection (1). Absence of the coned lateral lumbosacral radiograph will result in inadequate demonstration of the lumbosacral junction and a loss in diagnostic accuracy.
The first girl in a family was affected with late infantile metachromatic leukodystrophy (MLD) and had the expected characteristic central nervous system progressive deterioration, which resulted in decerebration and death. The second girl (propositus) demonstrated similar symptoms and signs at the same age. Both girls had characteristically low arylsulfatase A levels. The propositus underwent allogeneic bone marrow transplantation (BMT) from a normal histocompatible sibling. Two and a half years later, the propositus has not developed the intellectual and neurologic impairment demonstrated by the first sibling, although nerve conduction has continued to worsen. These results suggest that the induction of normal enzyme levels by BMT may be retarding or inhibiting CNS deterioration. These results, confirming earlier results of others, are sufficiently promising to warrant a larger scale critical trial of BMT early in the course of MLD.
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