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At least 343 records · Page 19Linked to original sources
PubMed1971

Biochemical approaches to the nosology of nervous system defects, II.

The nature of the metabolic defects in all of the major lipid storage diseases has been established within the past four years. This infromation has come primarily from extensive enzymologic studies in human tissues using labeled complex lipids as substrates. A brief description is presented of the background and experiments which led to the identification of the biochemical lesion in Gaucher's disease, Niemann-Pick disease, Fabry's disease, and Tay-Sachs disease.

Brain↗
PubMed1971

A review of selected inherited corneal dystrophies associated with systemic diseases.

The normal transparency of the cornea permits detailed in vivo study of several human pathologic conditions. Many systemic diseases are associated with corneal dystrophies which are manifested by haziness, opacification, crystalline deposition, or discoloration. Although these abnormal states can sometimes be seen grossly, biomicroscopy with slit lamp illumination is necessary for an exact morphologic description. Only precise delineation can lead to an accurate diagnosis of the corneal disorder and thus provide clues for an associatkd systemic disease.

Cornea↗
PubMedDate not supplied

Prenatal diagnosis of neurolipidoses.

While there is no single best procedure for performing prenatal diagnosis, ther is a rationale or strategy which will produce correct, reliable results. The investigator should be experienced with all the tests and know what to expect from each. At least two of these tests should e used (more if there s ambiguity) on amniotic fluid and cultured cell extracts. Which tests, and how many, are not as important as the skill and experience of the investigator performing them. Proper controls should be used. Probably the biggest single factor in successful prenatal diagnosis is the use of both negative and positive controls run simultaneously. No method, no matter how good or how well performed, can be counted upon to give sufficiently reproducible results to interpret without these controls. Finally, it is necessary for the investigator to be thoroughly familiar with the enzyme and its isozymes and the clinical heterogeneity of the disease. Although the foregoing details pertain specifically to Tay-Sachs disease, similar or related problems exist in the prenatal diagnosis of any of the neurolipidoses. The need for care of the samples, appreciation of biochemical and clinical heterogeneity, the need for adequate techniques, and the importance of proper controls are requirements for diagnosing any of the neurolipidoses.

Amniotic Fluid↗
PubMed1980

[Ultrastructural study in the diagnosis of various neurolipidoses].

We have studied the sphingolipidosis, principally, ceroid-lipofuscinosis and other complex lipid storage diseases. We examined biopsy tissue of fourteen patients with diseases of the various types given above. The biopsy tissue was usually skin, muscle or peripheral nerve, and occassionally brain or various visceral tissue.

Biopsy↗
PubMed1981

[Neuropathy associated with ichthyosis and splenomegaly in an adult patient. Possible relationship with altered glycosphingolipid metabolism (author's transl)].

The authors report on the case of a 40-year-old woman presenting with ichtyosiform erythroderma, central and peripheral neuropathy, splenomegaly and low serum haptoglobin levels. The patient's blood and urine contained large amounts of various ceramides polyhexoside including, in particular, a ceramide tetrahexoside containing fucose. The possibility of a new form of sphingolipidosis is discussed.

Adult↗
PubMed1980

[Interest of ultrastructural study of skin and muscle biopsies in inborn storage diseases. A report of 18 cases (author's transl)].

Skin and muscle biopsies were performed in 18 patients affected by various inborn storage disorders: mucopolysaccharidosis (MPS), sphingolipidosis, GM1 gangliosidosis, I-cell disease, ceroid-lipofuscinosis (CLF), adrenoleucodystrophy (ALD) and glycogenosis. In most cases, cutaneous and muscle biopsies demonstrate clearly the presence of storage inclusions in different cell types with great reproducibility and sometimes a specificity for a particular disease. Thus, electron microscopic examinations of skin and muscle, often complementary, can given valuable informations at two levels: - either a morphological confirmation depending on the type of the storage disease: e. g. clear, granular and fuzzy inclusions identified with mucopolysaccharidic material, lamellar and pseudomyelinic figures corresponding to lipidic structures are found in different cell types in MPS, gangliosidosis and sphingolipidosis; - or a diagnostic proof of some lysosomal diseases where there are very specific ultrastructural features such as the curvilinear bodies and fingerprint profiles in CLF or the spicular inclusions in ALD. These informations are the more important as the enzymatic defect is unknown in these inherited disorders. We conclude that the ultrastructural examination of a skin and muscle biopsy are an important tool for the diagnosis of a lysosomal storage disease which avoids any more difficult biopsies as brain, kidney, liver.

Adolescent↗
PubMedDate not supplied

Cranial computed tomography in disorders of complex carbohydrate metabolism and related storage diseases.

Computed tomography (CT) was performed on 34 children with different disorders of complex carbohydrate metabolism and related storage diseases to obtain data on the degree of cerebral involvement. The main findings on CT were cerebral atrophy and hypodensity of the white matter. There was a great variability in these CT findings, even in siblings. Among the patients there were several in whom CT was normal, so a negative study does not exclude one of these disorders. These findings show that CT features such as cerebral atrophy or hypodensity are helpful in the evaluation of these disorders, though a diagnosis cannot be made on the basis of CT alone.

Brain Diseases, Metabolic↗