1/135. Electroretinogram and visually evoked cortical potential in tay-sachs disease: a report of two cases. The electroretinogram (ERG) and visually evoked cortical potential (VECP) were recorded in two cases of tay-sachs disease where diagnosis was well established: 1. ERGs of high amplitude and of normal wave form were recordable with prominent oscillatory potentials. Responses were always equal in both eyes. 2. VECPs were extinguished in both cases. These findings were interpreted as showing that tay-sachs disease is caused by the degeneration of ganglion cells in the nervous system and that the ganglion cells in the retina do not affect the ERGs of vertebrate animals. ( info) |
| Lysosomal acid lipase (LAL) activity was measured using a new fluorometric assay in cultured skin fibroblasts from eight control subjects, two obligate heterozygotes for Wolman's disease (WD), one patient with WD, and one patient with cholesteryl ester storage disease (CESD). The LAL activities (mean /-SD) were 25.8 /-8.2, 13.2 /-0.1,1.1, and 1.4 nmol 4-methylumbelliferyl oleate (4-MUO) hydrolyzed/min/mg protein, respectively. These results compare favorably with those obtained using standard radioassays. The LAL activities of two cultures of amniotic fluid cells were 12.1 and 10.5. The LAL activity (mean /-SD) of peripheral leukocytes obtained from 34 laboratory volunteers (19 females, 15 males) was 4.0 /-1.8. Partially purified lymphocytes contained about 25 times as much LAL activity as did granulocytes. Cellogel electrophoresis, followed by staining with 4-MUO, showed at least two bands of LAL (A and B) from normal fibroblasts, amniotic fluid cells, and lymphocytes. Band A was absent from WD and CESD fibroblasts and was reduced in fibroblasts of the WD heterozygotes. ( info) |
3/135. Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation. A 36-year-old woman was admitted for hepatosplenomegaly and anemia. bone marrow cytology showed "sea-blue histiocytes", vacuolated macrophages and plasma cells. As primary liver disease, malignancy or hematologic disorders were excluded, and plasma chitotriosidase activity was increased 27-fold over control, the presence of a lysosomal storage disease was suspected. Biochemical analysis of skin fibroblasts revealed normal glucocerebrosidase and sphingomyelinase activity, but lipid analysis showed a more than 15-fold accumulation of cholesterol esters within the cells. The activity of lysosomal acid lipase (LAL) in fibroblast homogenates was decreased to 12% of control subjects. Mutational analysis of the patient's blood showed the homozygous G-->A mutation at position -1 of the exon 8 splice donor site (E8SJM-allele) known for adult cholesteryl ester storage disease (CESD); the polymorphic background was that of the complex haplotype -6Thr, 2Gly, 894 G-->A. Based on clinical, laboratory, cytological and and biochemical findings, CESD can clearly be separated from other more frequent inherited lysosomal storage diseases, e.g. atypical forms of gaucher disease. ( info) |
4/135. Lipoid proteinosis. Report of 2 cases with histology of the vocal folds. Two cases of lipoid proteinosis, in which biopsies of the vocal cords were done, are presented. The condition is briefly discussed. ( info) |
5/135. A case of atypical Cogan's syndrome with uncommon corneal findings. PURPOSE: We report a case of atypical bilateral interstitial keratitis associated with Cogan's syndrome. methods: A 28-year-old man presented with a 2-year history of recurrent bilateral keratitis. Bilateral hearing loss preceded the ocular symptoms by 2 years. The patient also complained of skin nodules, headache, back pain, and arthritis. Corneal finding were consistent with superior stromal keratitis with stromal neovascularization and lipid deposition in the stroma. The patient's audiogram revealed cochlear pathology compatible with Cogan's syndrome (sensorineural deafness). RESULTS: The patient was treated with topical steroids but eventually required corneal transplantation in the right eye as a consequence of progressive loss of vision secondary to progressive lipid keratopathy. Visual acuity at the patient's most recent follow-up evaluation was 20/40. CONCLUSION: This case represents an unusual type of interstitial keratitis associated with Cogan's disease. The absence of ocular symptoms at the time of initial ear involvement and the atypical presentation of the keratitis were responsible for the delay in diagnosis in this patient, resulting in hearing impairment. ( info) |
6/135. Morphological features in a neutral lipid storage disease. The morphological changes in a patient with a generalized storage disease characterized by the intracellular deposition of neutral lipid are described. There is widespread accumulation of lipid in the cytoplasm of many cells and in occasional nuclei. diagnosis may be facilitated by the recognition of clear vacuoles in the cytoplasm of granulocytes in blood films. In jejunal biopsies vacuolation of the epithelial cells may simulate the appearances of a-betalipoproteinaemia. The lipid inclusions consist largely of normal triglycerides and are free in the cytoplasm, unassociated with any organelle. The biochemical basis of the lesions is uncertain. Although there are lipoprotein abnormalities the primary defect appears to be intrinsic to the cell and may involve either a defective cytoplasmic lipase or an impaired uptake and utilization of fatty acids by mitochondria. ( info) |
7/135. Lipoid proteinosis. A case report. Lipoid proteinosis caused specific changes in the brain, larynx, and cervical esophagus of a young adult man. Laryngography clearly depicts the distribution and degree of pharyngeal and laryngeal pathology. Florid calcification, conforming to the classical temporal lobe distribution, is documented by plain films and tomography. The clinical picture and the pertinent literature are reviewed. ( info) |
8/135. Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. carnitine-acylcarnitine translocase (CACT) deficiency is an inherited defect of the co-transport of free and esterified carnitine across the inner mitochondrial membrane. We report a case of CACT deficiency in a newborn who died at 72 h of age from severe, intractable cardiac tachyarrhythmia, despite an improvement in his neurological and biochemical status. Postmortem examination showed marked steatosis of myocardium, liver, and kidney. In addition, electron microscopic studies showed virtually complete elimination of mitochondria from cardiomyocytes. It appears that the correction of the acute metabolic derangements in this condition may not prevent rapid progression to death, suggesting that the rhythm disturbances in CACT deficiency result from prior and ongoing accumulation of toxic metabolites, rather than from an acute metabolic derangement. Furthermore, we speculate that the choice of anti-arrhythmic agent in this patient may paradoxically have contributed to his death. ( info) |
9/135. I-cell disease. Report of three cases. Clinical, radiological, histochemical, ultrastructural, and biochemical studies were conducted on three cases of I-cell disease. I-cell disease can be readily distinguished from Hurler syndrome (mucopolysaccharidosis i) by the presence of hypertrophic gums, vacuolated lymphocytes in peripheral blood, and a normal level of urinary mucopolysaccharides. Accumulation of proteoglycans was more prominent in the inclusion bodies of I-cell chondrocytes in comparison to cultured fibroblasts, which contained a large amount of glycolipids and a small amount of proteoglycans. An autosomal recessive mode of inheritance was suggested in two of the cases. ( info) |
10/135. Massive deposition of mineral oil after prolonged ingestion. A patient in whom prolonged mineral oil (liquid paraffin) ingestion caused the deposition of this material in the small intestine, abdominal lymph nodes, the liver, spleen and lungs, is described. The results of chemical and histochemical identification of the isolated material are presented. A description of the gross and microscopic pathology is followed by a brief consideration of some aspects of the subject of mineral oil ingestion. Prolonged unrestricted ingestion of mineral oil is dangerous and may cause structural and functional abnormalities which lead to severe malnutrition and death. ( info) |