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Biomedical subjects

J L Slooff

Publications and source records attributed to J L Slooff.

At least 37 records · Page 2Linked to original sources
PubMed1981

Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver.

Progressive infantile poliodystrophy (Alpers' disease) is associated with abnormalities in pyruvate metabolism or in cell mitochondria. A 3-year-old-boy had a severe and rapidly progressive neurologic disorder characterized by psycho-motor retardation, tetraparesis, ataxia, and myoclonic jerks, the illness being exacerbated during periods of infection. Lactate concentration in CSF was elevated. Histopathologic studies revealed lipid storage in liver and muscle. Autopsy showed a progressive infantile poliodystrophy. Mitochondrial abnormalities were found in heart muscle. Biochemical studies of muscle and liver tissue suggested a disturbance in nicotinamide adenine dinucleotide (reduced form) oxidation.

Child, Preschool↗
PubMed1981

Neurologic manifestations of homocystinuria.

Recognition of the disease homocystinuria by the neurologist may be of importance as is illustrated in the dramatic case history of a 20 year old woman. Confusion with Marfan's syndrome frequently occurs. The clinical and pathologic anatomical features are described. A review of the literature is given and the use of contraceptives is discussed.

Adult↗
PubMed1980

Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family.

A Dutch sibship is described consisting of a girl and a boy affected by the same disease. Both suffered from hydrocephalus and severe generalized weakness with death at 2 days and 4 months respectively. Full autopsy was done on the boy and this revealed a lissencephalic, partly polymicrogyric, neocortex, a bridge of grey matter linking the cerebral hemispheres before and over the lateral ventricles, neocortical dysplasia with subcortical neuronal heterotopic masses, generalized white matter gliosis, also involving the long fibre tracts and generalized vascular proliferation. The cerebellum showed generalized polymicrogyria. Also true hydrocephalus was found presumably related to a malformed aqueduct. Muscle biopsy revealed severe changes, consistent with congenital muscular dystrophy. Representative sections from the girls autopsy revealed an identical pattern of abnormalities. The described pattern fits descriptions of Fukuyama's cerebromuscular dystrophy.

Brain↗
PubMed1976

Acquired basal encephalocele.

The radiodiagnostic signs of congenital basal encephalocele are well known. The case history described here shows that a long existing, acquired, traumatic transethmoidal encephalocele can cause the same roentgen appearance. The differences between the congenital and recent posttraumatic forms are indicated.

Adolescent↗
PubMed1976

A patient with so-called primary reticulum cell sarcoma of the brain with 6.5 years' survival, treated as 'meningeal leukaemia'.

This paper describes the case history of a 43 year-old patient with so-called primary reticulum cell sarcoma of the brain. The CSF contained cells suggestive of leukaemia which in view of an assumed myelofibrosis, initially seemed also possible to originate from a haematopoietic focus. The patient complained of intermittent violent headaches, which were controlled by spinal taps to release highly cellularised CSF under high pressure and by intrathecal MTX injection, every 4-6 weeks over a period of 4.5 years. In the terminal stage the patient developed paraplegia which, partly on the basis of neuropathological findings, was ascribed to the large accumulated dose of MTX. The tumour proved to be localised in the fornix; the localisation adjacent to the ventricular system made the intermittent cell eruptions in the CSF possible. On the basis of an erroneous diagnostic assumption, a therapy was instituted which resulted in a survival of 6.5 years, which is exceptionally long for a patient with 'primary reticulum cell sarcoma' of the brain.

Adult↗
PubMed1976

Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Clinical and pathologic findings.

A patient with Aicardi's syndrome had the complete clinical picture of mental subnormality, convulsions, electroencephalographic disturbances, ocular anomalies, female sex, and agenesis of the corpus callosum. A second patient had the features of the syndrome, with microphthalmia and one patient had the features of the syndrome, with microphthalmia and one depigmented zone. In both cases and in Brihaye's case, no pineal gland was found. Since the epiphysis cerebri is important as a clock for sexual development, its absence may be incompatible with the development of a male fetus. The pathogenesis of the syndrome remains obscure. While an exogenous cause may be at work in some of the cases, the complex and stereotypical character of the symptoms plead for a hereditary origin.

Agenesis of Corpus Callosum↗
PubMed1975

Electron microscopic investigation of inclusion material in a case of adult metachromatic leukodystrophy; observations on kidney biopsy, peripheral nerve and cerebral white matter.

The fine structural characteristics of storage products in peripheral nerve, kidney and cerebral white matter, from a case of adult metachromatic leukodystrophy are described. There were pronounced differences from the fine structural aspects in late infantile cases. A large proportion of the inclusions did not exhibit a unit membrane. An hypothesis is proposed to clarify the delayed manifestation of this type of metachromatic leukodystrophy until childhood.

Acid Phosphatase↗
PubMed1975

A clinical and neuropathological study of a patient with abrachia (congenital absence of both arms).

This paper presents the life history and clinical history of a male patient with abrachia (congenital absence of both arms), who died at the age of 67 as a result of compression of the thoracic spinal cord caused by gibbus formation. Neuropathological examination of the spinal cord revealed unusual changes in the cervical and high-thoracic cord segments: accumulations of ependymal cells, strikingly few motor anterior horn cells and a chaotic arrangement of cell systems, along with complete absence of the cervical intumescence. These findings prompted some embryological considerations.

Aged↗