Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases

2020 ◽  
Vol 40 (5) ◽  
pp. 605-611
Author(s):  
Sarah Taconet ◽  
Sophie Dreux ◽  
Fabien Guimiot ◽  
Magali Pettazzoni ◽  
Bichr Allaf ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Vacuolated Lymphocytes

Prenatal diagnosis of lysosomal storage diseases: A review of 23 cases

Pathology ◽  
1980 ◽  
Vol 12 (1) ◽  
pp. 139
Author(s):  
W.F. Carey ◽  
P.V. Nelson ◽  
A.C. Pollard
Keyword(s):  
Prenatal Diagnosis ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases

scholarly journals Prenatal Diagnosis of Lysosomal Storage Diseases

2006 ◽  
Vol 8 (1) ◽  
pp. 133-149 ◽  
Author(s):  
Brian D Lake ◽  
Elisabeth P Young ◽  
Bryan G Winchester
Keyword(s):  
Prenatal Diagnosis ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases

Prenatal diagnosis of lysosomal storage diseases

1984 ◽  
Vol 140 (4) ◽  
pp. 203-208 ◽  
Author(s):  
William F. Carey ◽  
John J. Hopwood ◽  
Alfred Poulos ◽  
Dace Petersons ◽  
Paul V. Nelson ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases

Prenatal diagnosis of lysosomal storage diseases

1975 ◽  
Vol 7 (6) ◽  
pp. 496-498 ◽  
Author(s):  
W. J. Kleijer ◽  
E. S. Sachs ◽  
M. F. Niermeijer
Keyword(s):  
Prenatal Diagnosis ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases

Prenatal diagnosis of lysosomal storage diseases using fetal blood

1999 ◽  
Vol 19 (10) ◽  
pp. 930-933 ◽  
Author(s):  
Johanna E. M. Groener ◽  
Frank L. de Graaf ◽  
Ben J. H. M. Poorthuis ◽  
Humphrey H. H. Kanhai
Keyword(s):  
Prenatal Diagnosis ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Fetal Blood ◽  
Storage Diseases

Electron Microscopy in the diagnosis of lysosomal storage diseases

1989 ◽  
Vol 47 ◽  
pp. 866-867
Author(s):  
Carole Vogler ◽  
Harvey S. Rosenberg
Keyword(s):  
Electron Microscopy ◽  
Lysosomal Enzyme ◽  
Rectal Mucosa ◽  
Lysosomal Storage Diseases ◽  
Cell Types ◽  
Lysosomal Storage ◽  
Storage Material ◽  
Ultrastructural Examination ◽  
Blood Leukocytes ◽  
Storage Diseases

Diagnostic procedures for evaluation of patients with lysosomal storage diseases (LSD) seek to identify a deficiency of a responsible lysosomal enzyme or accumulation of a substance that requires the missing enzyme for degradation. Most patients with LSD have progressive neurological degeneration and may have a variety of musculoskeletal and visceral abnormalities. In the LSD, the abnormally diminished lysosomal enzyme results in accumulation of unmetabolized catabolites in distended lysosomes. Because of the subcellular morphology and size of lysosomes, electron microscopy is an ideal tool to study tissue from patients with suspected LSD. In patients with LSD all cells lack the specific lysosomal enzyme but the distribution of storage material is dependent on the extent of catabolism of the substrate in each cell type under normal circumstances. Lysosmal storages diseases affect many cell types and tissues. Storage material though does not accumulate in all tissues and cell types and may be different biochemically and morphologically in different tissues.Conjunctiva, skin, rectal mucosa and peripheral blood leukocytes may show ultrastructural evidence of lysosomal storage even in the absence of clinical findings and thus any of these tissues can be used for ultrastructural examination in the diagnostic evaluation of patients with suspected LSD. Biopsy of skin and conjunctiva are easily obtained and provide multiple cell types including endothelium, epithelium, fibroblasts and nerves for ultrastructural study. Fibroblasts from skin and conjunctiva can also be utilized for the initiation of tissue cultures for chemical assays. Brain biopsy has been largely replaced by biopsy of more readily obtained tissue and by biochemical assays. Such assays though may give equivical or nondiagnostic results and in some lysosomal storage diseases an enzyme defect has not yet been identified and diagnoses can be made only by ultrastructural examination.

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