Biomedical subjects
Publications and source records attributed to J C Jacob.
It is rare for patients with diastematomyelia to manifest initial symptoms in adult life. Clinical, radiological, and surgical features of a patient with symptomatic adult diastematomyelia are presented. Pathogenetic mechanisms are considered to include a variety of congenital spinal anomalies, distinct from the spur, as well as mechanical factors.
A case of spinal subdural hematoma occurring in association with anticoagulant therapy is reported. Seven similar cases from the literature are reviewed the emphasis on the clinical features, investigation, and the results of treatment. The prognosis for recovery is good, only if the condition is diagnosed and the clot evacuated before severe spinal cord compression and subsequent ischemic necrosis has occurred.
Patients with Batten-Kufs' disease may be divided into three groups by electronmicroscopy of their storage deposits. In the first group, those characterized by curvilinear profiles, there is a strong correlation with a particular clinical syndrome, the late infantile form of the disease. In the second group, characterized by finger-print profiles, there is great diversity as to age and type of presentation. This is paralleled by diversity in the deposits. To the third group belongs the infantile form of the disease, as well as rare patients with later onset. Pathological diagnosis can be reliably, conveniently and consistently made from biopsy of skin by electronmicroscopy, and usually from biopsy of skeletal muscle as well.
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There is a particular form of late-infantile amaurotic idiocy in which no clear chemical-pathological or unique enzyme abnormalities have been identified to date. A distinctive morphological feature has been recognized on electron microscopical examination of tissues from these patients, which has been descriptively labeled with various terms, including "multilamellar cytosomes" (MLC). Illustrations of MLC in a patient with this late-infantile form of cerebroretinal degeneration show their reactivity with the periodic acid-silver methenamine reaction for glycoproteins. The MLC are shown to be morphologically identical in cerebral tissue obtained at biopsy, in the same tissue obtained three years later at autopsy, and in skeletal muscle.
The clinical features of the Chiari Malformation in seven adult patients are presented. It is suggested that the clinical syndromes associated with this malformation, in adults, can be classified as (a) compression of structures at the level of foramen magnum (with or without radiologically demonstrable associated bony anomaly at the cranio-vertebral junction (b) increased intracranial pressure or obstructive hydrocephalus and (c) intramedullary cervical cord syndrome. The usefulness of tomography, and demonstration of the vertebro-basilar circulation in the neuro-radiologic investigation of these patients is emphasized. The surgical procedures performed in the management of these patients are outlined.
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A 17-year-old patient had myoclonic epilepsy caused by Lafora's disease. Biopsy showed polysaccharide accumulations within membrane-bound spaces in skeletal muscle cells. Some of the accumulations were morphologically similar to Lafora bodies as they have been seen in the brain. The histochemical reactions of these membrane-bound spaces suggested that they were peroxisomes. Polysaccharide accumulations also were demonstrated in hepatic cells, where they probably were located in the endoplasmic reticulum. Lafora's disease can be diagnosed by histochemical and electron microscopic study of skeletal muscle.
The clinical features of regression in mental and motor development of a 7-month-old child are reported, together with the demonstration of a profound deficiency of galactosylceramide beta-D-galactosidase in a liver biopsy. The diagnosis of Krabbe's disease or globoid cell leukodystrophy (GLD) is therefore unequivocally established. The clinical features and morbid anatomical findings permitting the diagnosis of GLD in two of the child's sibs are summarized. This is the first report from Newfoundland of this inborn error of sphingolipid metabolism.
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Explore the source record for details and available documents.
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