0
December 1975, Vol 32, No. 12 >
Article | December 1975

Metachromatic Leukodystrophy: Title and subTitle BreakUltrastructural and Enzymatic Study of a Case of Variant 0 Form

Elie-Jean Raynaud, MD; Raymond Escourolle, MD; Nicole Baumann, MD; Jean-Claude Turpin, MD; Gisèle Dubois, CNRS; George Malpuech, MD; Roger Lagarde, MD
[+] Author Affiliations

Accepted for publication Dec 10, 1974.

Reprint requests to the Department of Pediatrics, Clermont-Ferrand Hospital, 63000, Clermont-Ferrand, France (Dr Raynaud).


Arch Neurol. 1975;32(12):834-838. doi:10.1001/archneur.1975.00490540078011
Text Size: A A A
Published online
Article
References
Comments

• A variant of metachromatic leukodystrophy (MLD), Austin disease, is characterized by a multiple isozyme deficiency of arylsulfatase. A 31/2-year-old girl with progressive mental and physical deterioration had decreased activities of arylsulfatases A and B in the leukocytes, shown by acrylamide gel electrophoresis. Under the electron microscope, biopsy specimens of the brain and the peripheral nerve showed lamellar structures with socalled zebra bodies in the cytoplasmic processes of glial cells, granulomembranous inclusions with fingerprint configurations in neurons, and myelinlike material in Schwann cells. Results from our study suggest an intricate nature of this dysmetabolic disorder, which shows ultrastructural changes usually seen in classic MLD, a deficiency of arylsulfatase A only, concomitant with those seen in mucopolysaccharidoses such as Hurler and Sanfilippo syndromes.

REFERENCES

1 +
Austin JH:  Recent studies in the metachromatic and globoid body forms of diffuse sclerosis , in Folch-Pi J, Bauer H (eds): Brain Lipids and Lipoproteins and the Leucodystrophies . Amsterdam, Elsevier Press, Inc, 1963;, pp 120-133.
2 +
Austin JH:  Mental retardation: Metachromatic leucodystrophy , in Carter CH: Medical Aspects of Mental Retardation . Springfield, Ill, Charles C Thomas Publisher, 1965;, pp 768-812.
3 +
Austin JH:  Studies in metachromatic leukodystrophy: XII. Multiple sulfatase deficiency . Arch Neurol 28:258-264, 1973;.
4 +
Bischel M, Austin J, Kemeny H:  Metachromatic leucodystrophy: VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues . Arch Neurol 15:13-28, 1966;.
5 +
Harzer K, Stinshoff K, Mraz W, et al:  The patterns of arylsulphatases A and B in human normal and metachromatic leucodystrophy tissues and their relationship to the cerebroside sulphatase activity . J Neurochem 20:279-287, 1973;.
6 +
Percy AK, Brady RO:  Metachromatic leucodystrophy: Diagnosis with samples of venous blood . Science 161:594-595, 1968;.
7 +
Dubois G, Turpin JC, Baumann N:  Utilisation de l'électrophorèse pour la détection de la leucodystrophie métachromatique à partir de leucocytes humains . CR Acad Sci Paris 278:1401-1403, 1974;.
8 +
Dubois G, Baumann N:  Arylsulphatases A and B of human leucocytes: Specific inhibitors and electrophoretic characterization . Biochem Biophys Res Commun 50:1129-1135, 1973;.
9 +
Mossakowski M, Mathieson G, Cumings J:  On the relationship of metachromatic leucodystrophy and amaurotic idiocy . Brain 84:585-604, 1961;.
10 +
Luthy F, Ulrich J, Regli F, et al: Amaurotic idiocy with metachromatic change in the white matter, in Proceedings of the Fifth International Congress on Neuropathology. Amsterdam, Excerpta Medica, 1965, p 125.
11 +
Austin JH:  Observations in metachromatic leucoencephalopathy . Trans Am Neurol Assoc 83:149-152, 1958;.
12 +
Austin JH:  Some recent findings in leukodystrophies and in gargoylism , in Aronson S, Volk B (eds): Inborn Disorders of Sphingolipid Metabolism: Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses . New York, Pergamon Press Inc, 1966;, pp 359-387.
13 +
Moser H, Sugita M, Harbison MD, et al:  Liver glycolipids, steroid sulfates and steroid sulfatases in a form of metachromatic leucodystrophy associated with multiple sulfatase deficiencies , in Volk B, Aronson S (eds): Sphingolipids, Sphingolipidoses and Allied Disorders . New York, Plenum Press Inc, 1972;, vol 19, pp 429-450.
14 +
Thieffry S, Lyon G, Maroteaux P:  Leucodystrophie métachromatique (Sulfatidose) et mucopolysaccharidose associées chez un même malade . Rev Neurol 114:193-200, 1966;.
15 +
Rampini S, Isler W, Baerlocher K:  Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbständiges Krankheitsbild (Mukosulfatidose) . Helv Paediatr Acta 25:436-461, 1970;.
16 +
Murphy JV, Wolfe HJ, Balazs EA, et al:  A patient with deficiency of arylsulfatases A, B, C and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans , in Bernsohn J, Grossman H (eds): Lipid Storage Diseases : New York, Academic Press Inc, 1971;, pp 67-110.
17 +
Philippard M:  Etude biochemique des sphingolipidoses et des mucopolysaccharidoses , in Mucopolysaccharidoses et Sphingolipidoses: XXII. Congés de Pediatres de Langue Française . Paris, Expansion Scientifique Française, 1969;, pp 5-41.
18 +
Grégoire A, Périer O, Dustin P Jr:  Metachromatic leukodystrophy, an electron microscopic study . J Neuropathol Exp Neurol 25:617-636, 1966;.
19 +
Aleu FP, Terry RD, Zellweger H:  Electron microscopy of two cerebral biopsies in gargoylism . J Neuropathol Exp Neurol 24:304-317, 1965;.
20 +
Escourolle R, Berger B, Poirier J:  Brain biopsy in a case of H.S. mucopolysaccharidosis: Polydystrophic oligophrenia or San Filippo's disease: An histochemical and ultrastructural study . Presse Méd 74:2869-2874, 1966;.
21 +
Dreyfus JC:  Bases moléculaires des maladies enzymatiques génétiques . Biochimie 54:559-571, 1972;.

First Page Preview

First page PDF preview

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

1 +
Austin JH:  Recent studies in the metachromatic and globoid body forms of diffuse sclerosis , in Folch-Pi J, Bauer H (eds): Brain Lipids and Lipoproteins and the Leucodystrophies . Amsterdam, Elsevier Press, Inc, 1963;, pp 120-133.
2 +
Austin JH:  Mental retardation: Metachromatic leucodystrophy , in Carter CH: Medical Aspects of Mental Retardation . Springfield, Ill, Charles C Thomas Publisher, 1965;, pp 768-812.
3 +
Austin JH:  Studies in metachromatic leukodystrophy: XII. Multiple sulfatase deficiency . Arch Neurol 28:258-264, 1973;.
4 +
Bischel M, Austin J, Kemeny H:  Metachromatic leucodystrophy: VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues . Arch Neurol 15:13-28, 1966;.
5 +
Harzer K, Stinshoff K, Mraz W, et al:  The patterns of arylsulphatases A and B in human normal and metachromatic leucodystrophy tissues and their relationship to the cerebroside sulphatase activity . J Neurochem 20:279-287, 1973;.
6 +
Percy AK, Brady RO:  Metachromatic leucodystrophy: Diagnosis with samples of venous blood . Science 161:594-595, 1968;.
7 +
Dubois G, Turpin JC, Baumann N:  Utilisation de l'électrophorèse pour la détection de la leucodystrophie métachromatique à partir de leucocytes humains . CR Acad Sci Paris 278:1401-1403, 1974;.
8 +
Dubois G, Baumann N:  Arylsulphatases A and B of human leucocytes: Specific inhibitors and electrophoretic characterization . Biochem Biophys Res Commun 50:1129-1135, 1973;.
9 +
Mossakowski M, Mathieson G, Cumings J:  On the relationship of metachromatic leucodystrophy and amaurotic idiocy . Brain 84:585-604, 1961;.
10 +
Luthy F, Ulrich J, Regli F, et al: Amaurotic idiocy with metachromatic change in the white matter, in Proceedings of the Fifth International Congress on Neuropathology. Amsterdam, Excerpta Medica, 1965, p 125.
11 +
Austin JH:  Observations in metachromatic leucoencephalopathy . Trans Am Neurol Assoc 83:149-152, 1958;.
12 +
Austin JH:  Some recent findings in leukodystrophies and in gargoylism , in Aronson S, Volk B (eds): Inborn Disorders of Sphingolipid Metabolism: Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses . New York, Pergamon Press Inc, 1966;, pp 359-387.
13 +
Moser H, Sugita M, Harbison MD, et al:  Liver glycolipids, steroid sulfates and steroid sulfatases in a form of metachromatic leucodystrophy associated with multiple sulfatase deficiencies , in Volk B, Aronson S (eds): Sphingolipids, Sphingolipidoses and Allied Disorders . New York, Plenum Press Inc, 1972;, vol 19, pp 429-450.
14 +
Thieffry S, Lyon G, Maroteaux P:  Leucodystrophie métachromatique (Sulfatidose) et mucopolysaccharidose associées chez un même malade . Rev Neurol 114:193-200, 1966;.
15 +
Rampini S, Isler W, Baerlocher K:  Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbständiges Krankheitsbild (Mukosulfatidose) . Helv Paediatr Acta 25:436-461, 1970;.
16 +
Murphy JV, Wolfe HJ, Balazs EA, et al:  A patient with deficiency of arylsulfatases A, B, C and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans , in Bernsohn J, Grossman H (eds): Lipid Storage Diseases : New York, Academic Press Inc, 1971;, pp 67-110.
17 +
Philippard M:  Etude biochemique des sphingolipidoses et des mucopolysaccharidoses , in Mucopolysaccharidoses et Sphingolipidoses: XXII. Congés de Pediatres de Langue Française . Paris, Expansion Scientifique Française, 1969;, pp 5-41.
18 +
Grégoire A, Périer O, Dustin P Jr:  Metachromatic leukodystrophy, an electron microscopic study . J Neuropathol Exp Neurol 25:617-636, 1966;.
19 +
Aleu FP, Terry RD, Zellweger H:  Electron microscopy of two cerebral biopsies in gargoylism . J Neuropathol Exp Neurol 24:304-317, 1965;.
20 +
Escourolle R, Berger B, Poirier J:  Brain biopsy in a case of H.S. mucopolysaccharidosis: Polydystrophic oligophrenia or San Filippo's disease: An histochemical and ultrastructural study . Presse Méd 74:2869-2874, 1966;.
21 +
Dreyfus JC:  Bases moléculaires des maladies enzymatiques génétiques . Biochimie 54:559-571, 1972;.

Correspondence

Submit a Letter
CME Course for:


You need to register in order to view this quiz.


To understand the clinical management of acute heart failure syndromes.
Accreditation Information The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
To view and print your certificate and access a summary of your CME courses go to My CME.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s “Cited By” API will populate this tab (http://www.crossref.org/citedby.html).
Compression-Only CPR: Pushing the Science Forward
Cone
AAM 2010;304:1493-1495.
All you need to read in the other general journals
BMJ 2010;341:c5893-c1494.
Submit a Comment

Some tools below are only available to our subscribers or users with an online account.

Related Content

Customize your page view by dragging & repositioning the boxes below.

© 2012 American Medical Association. All Rights Reserved.
Powered bySilverchair Information Systems