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Biomedical subjects

J Libert

Publications and source records attributed to J Libert.

At least 55 records · Page 3Linked to original sources
PubMed1981

Fetal Krabbe leukodystrophy. A morphologic study of two cases.

Two new cases of Krabbe disease were diagnosed prenatally in a family with two previous affected children. The activity of galactosylceramide-beta-galactosidase was virtually absent in cultured amniotic cells. The prenatal diagnosis was confirmed enzymatically in cultured fibroblasts, brain, and visceral organs. Light and electron microscopy studies in both fetuses, 20 and 23 weeks of gestational age respectively, revealed the presence of typical globoid cells in the white matter of the spinal cord. Specific inclusions were also found in the brain stem and in peripheral nerves of the second fetus. A comparison with other Krabbe disease fetuses described in the literature contributes to the consensus that abnormal morphological findings can be expected in particular in the most actively myelinating areas of the nervous system. Although most of the cells containing the specific inclusions are probably non-glial in nature, some of them could represent myelination glia.

Amniocentesis↗
PubMed1981

Multiple sulphatase deficiency with early onset.

This male infant was first brought to attention in the neonatal period because he presented clinical and radiological evidence of multiple bone deformities. He was readmitted at 21/2 months for hydrocephaly, hepatosplenomegaly and poor somatic and psychomotor development. In addition, coarse facies, corneal opacities and stiff joints were noticed. Bone X-ray anomalies and vacuolized lymphocytes supported the clinical presumption of lysosomal storage disorder. The diagnosis of multiple sulphatase deficiency rests on the presence of MPS and sulphatides in the urine, the finding of a mixed storage process in conjunctival biopsy and the demonstration of deficiencies in arylsulphatases A, B, C, iduronate sulphatase and heparan sulphatase in serum, leukocytes and cultured fibroblasts.

Abnormalities, Multiple↗
PubMed1981

[Use of plasmapheresis in a case of Graves' disease with malignant ophthalmopathy (author's transl)].

A short trial with high doses of prednisolone to treat a 62 year-old woman with malignant ophthalmopathy due to Graves disease yielded an unsatisfactory improvement after 5-6 days. The authors decided therefore to use plasmapheresis, 4 plasma exchanges of 2.5 liters each associated with prednisolone (80 ng/day) and azathioprine (100 mg/day). This therapeutic approach resulted in a spectacular improvement obtained after less than 2 weeks: normalization of thyroid function, improvement of all ophthalmological indices confirmed by radiology (C.A.T.) of the retroocular region. The rapid and important improvement obtained after such a short period of time is in favor or the major role of plasmapheresis in this combined therapy of malignant Graves' ophthalmopathy.

Azathioprine↗
PubMed1980

Skin and conjunctival nerve biopsies in adrenoleukodystrophy and its variants.

This study demonstrates that skin or conjunctival biopsies are capable of diagnosing adrenoleukodystrophy and its variants. Electron microscopy of cutaneous nerve twigs in eleven patients showed characteristic curved clefts and leaflets in Schwann cells surrounding myelinated axons. In addition, three conjunctival biopsies were done, two of which were positive. The two peripheral nerve trunk biopsies performed also showed characteristic Schwann cell changes.

Adolescent↗
PubMed1980

A severe infantile sialidosis: clinical, biochemical, and microscopic features.

An infant boy is described whose clinical findings include congenital ascites, hepatosplenomegaly, postnatal growth failure, dysostosis multiplex, delayed development, pericardial effusion, and the nephrotic syndrome. Death occurred before he reached 2 years of age. Evidence indicates that these abnormalities resulted from an autosomal recessive inherited deficiency of neuraminidase.

Ascites↗
PubMed1980

Sanfilippo A disease in the fetus--comparison with pre- and postnatal cases.

One fetus at risk for Sanfilippo A disease was found to be affected by assaying heparan sulfate sulfamidase in cultured amniotic cells, and, after abortion, in cultured skin fibroblasts. Morphologically, cells from placenta, visceral organs and fibroblasts contained large amounts of electron-lucent vacuoles. Limited amounts of inclusions with lamellar profiles were found in the neurons. As no similar lesions were discovered in control cases, their presence in this fetus was considered as significant, indicating an early involvement of the central nervous system. We compared our findings with those of other pre- and postnatal proven cases of Sanfilippo disease (mucopolysaccharidosis III).

Central Nervous System↗
PubMed1980

Diagnosis of lysosomal storage diseases by the ultrastructural study of conjunctival biopsies.

This ultrastructural study of conjunctival biopsies of 150 patients affected with various lysosomal storage disease allows us to demonstrate particular lesions in all the infantile phenotypes investigated so far. These alterations appear before the first clinical signs, suggest the possibility of such a disorder, and are often specific enough to propose an accurate diagnosis either because the lysosomes have a typical appearance or because their topographic distribution among the different conjunctival cell types is characteristic. As the morphologic approach is an obligatory step in the recognition of lysosomal storage diseases, we suggest concurrent use of conjunctival biopsy for the early screening and diagnosis of these disorders, as it is a very simple, easy, harmless technique, whose results are generally superior to those obtained by other methods.

Biopsy↗
PubMed1979

Skin and conjunctival biopsies in infantile neuroaxonal dystrophy.

The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal axons. INAD is the first neurological disease outside the group of storage disorders in which skin and conjunctival biopsies contribute significiantly to the diagnosis.

Axons↗
PubMed1979

Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin.

The condition of a 4-year-old white girl of Ashkenazi Jewish parents was diagnosed as mucolipidosis IV on the basis of marked corneal clouding and severe psychomotor retardation, in the absence of facial-skeletal dysplasia or abnormal mucopolysacchariduria. The results of histochemical and ultrastructural studies of conjunctiva, skin, and corneal epithelium confirmed the combined storage of acid mucopolysaccharide and complex lipid substances. An unusual histopathologic feature of mucolipidosis IV is the predisposition of extreme storage involvement of corneal epithelial cells with relative sparing of the keratocytes, which is a finding of potential therapeutic implication. In addition, application of electron microscopic study of cultured amniotic cells and conjunctival biopsy specimens to assess for the parents the mother's subsequent pregnancy additional emphasizes the value of ultrastructural studies in the diagnosis of lysosomal storage disease.

Amniotic Fluid↗
PubMed1979

Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants.

Histopathological studies of the eyes from three patients affected with the infantile form of metachromatic leukodystrophy (MLD) showed the storage of metachromatic complex lipids in the retinal ganglion cells, in the optic nerve and the ciliary nerves, as well as the storage of a mucopolysaccharide-like material in the nonpigmented epithelium of the ciliary body. The lesions were limited to the optic, ciliary, and sensory nerves in a fourth patient with the juvenile form of the disorder. These morphological aspects, which are probably related to differences in sulfatase A activities, may explain the variability of the ocular manifestations in metachromatic leukodystrophy. Seven children affected with infantile MLD or with mucosulfatidosis were examined by conjunctival biopsy. Typical lesions of the sensory nerves were obvious and allowed the diagnosis of the disease. However, it seemed impossible to separate the different forms by histopathological studies only. The tear enzymes were assayed in most of the cases and demonstrated a profound deficiency of arylsulfatase A, or of arylsulfatase A and B, in the classical MLD and in mucosulfatidosis, respectively.

Cerebroside-Sulfatase↗
PubMed1979

Cellular toxicity of gentamicin.

Subconjunctival injections of gentamicin induced a lysosomal storage process within the conjunctival fibroblasts in rats, rabbits, and humans. Under electron microscopy, the accumulated substance was composed of a granular material and pleomorphic lamellar structures, corresponding to the presence of complex lipids. In animals, the other ocular tissues as well as the cells reached through the bloodstream remained unaffected, except the proximal convoluted tubules of the kidneys, where important lesions were evident. Although human kidneys were not examined in our study, we believe they might present similar alterations.

Animals↗