Multiple Sulfatase Deficiency: Clinical, Neuropathological, Ultrastructural and Biochemical Studies
We describe the clinical, pathological, ultrastructural and biochemical features in the case of a 1 S-year-old boy with multiple sulfatase deficiency. Clinical abnormalities included hypotonia, retarded psychomotor development, hepatosplenomegaly, pigmentary degeneration of the retina, myoclonic sei...
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| Veröffentlicht in: | Journal of neuropathology and experimental neurology 1990-07, Vol.49 (4), p.406-423 |
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| container_title | Journal of neuropathology and experimental neurology |
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| creator | Guerra, Wayne F Verity, M Anthony Philippart, Michel Fluharty, Arvan L Nguyen, Hao T |
| description | We describe the clinical, pathological, ultrastructural and biochemical features in the case of a 1 S-year-old boy with multiple sulfatase deficiency. Clinical abnormalities included hypotonia, retarded psychomotor development, hepatosplenomegaly, pigmentary degeneration of the retina, myoclonic seizures, aortic insufficiency and quadriplegia. Urinalysis revealed increased heparan sulfate. At necropsy, aortic and mitral valves revealed nodular thickening and periodic acid-Schiff (PAS)-positive, metachromatic granules in renal proximal tubules. The brain weighed 400 g and demonstrated cerebral and cerebellar atrophy with a retrocerebellar meningeal cyst. Cortical neurons contained periodic acid-Schiff-positive and cresyl violetreactive granules. White matter demonstrated brown metachromasia and intense fibrillary gliosis. Conjunctival fibroblasts contained amorphous vacuoles with dense osmiophilic nucleoid cores. Pleomorphic extracellular, intraneural and intraglial inclusions were noted in the brain. Activities of arylsulfatase A, B and C were diminished markedly in autopsied tissue from brain, liver, and kidney (0, 0 and |
| doi_str_mv | 10.1097/00005072-199007000-00005 |
| format | Article |
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Clinical abnormalities included hypotonia, retarded psychomotor development, hepatosplenomegaly, pigmentary degeneration of the retina, myoclonic seizures, aortic insufficiency and quadriplegia. Urinalysis revealed increased heparan sulfate. At necropsy, aortic and mitral valves revealed nodular thickening and periodic acid-Schiff (PAS)-positive, metachromatic granules in renal proximal tubules. The brain weighed 400 g and demonstrated cerebral and cerebellar atrophy with a retrocerebellar meningeal cyst. Cortical neurons contained periodic acid-Schiff-positive and cresyl violetreactive granules. White matter demonstrated brown metachromasia and intense fibrillary gliosis. Conjunctival fibroblasts contained amorphous vacuoles with dense osmiophilic nucleoid cores. Pleomorphic extracellular, intraneural and intraglial inclusions were noted in the brain. Activities of arylsulfatase A, B and C were diminished markedly in autopsied tissue from brain, liver, and kidney (0, 0 and<10% of control activities, respectively). Partial deficiencies of iduronate sulfatase and heparan sulfatase were noted in different tissues. Variable decreased enzyme activities were expressed in leukocytesarylsulfatase A, 33% B, 40% and C, 90% heparan sulfatase, 2% and iduronate sulfatase was not detectable. Near normal activities were found in cultured fibroblasts.</description><identifier>ISSN: 0022-3069</identifier><identifier>EISSN: 1554-6578</identifier><identifier>DOI: 10.1097/00005072-199007000-00005</identifier><identifier>PMID: 1694540</identifier><identifier>CODEN: JNENAD</identifier><language>eng</language><publisher>Hagerstown, MD: American Association of Neuropathologists, Inc</publisher><subject>Adolescent ; Atrophy ; Biological and medical sciences ; Brain - metabolism ; Brain - pathology ; Brain - ultrastructure ; Cerebellum - pathology ; Conjunctiva - ultrastructure ; Errors of metabolism ; Humans ; Kidney - ultrastructure ; Lipids (lysosomal enzyme disorders, storage diseases) ; Male ; Medical sciences ; Metabolic diseases ; Myelin Sheath - pathology ; Staining and Labeling ; Sulfatases - deficiency ; Sulfatases - metabolism</subject><ispartof>Journal of neuropathology and experimental neurology, 1990-07, Vol.49 (4), p.406-423</ispartof><rights>1990 American Association of Neuropathologists, Inc</rights><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3855-abc8d71dd08518f7564535a7b5b23209532972b16b556bbbf03b5b8093982add3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19548979$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1694540$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Guerra, Wayne F</creatorcontrib><creatorcontrib>Verity, M Anthony</creatorcontrib><creatorcontrib>Philippart, Michel</creatorcontrib><creatorcontrib>Fluharty, Arvan L</creatorcontrib><creatorcontrib>Nguyen, Hao T</creatorcontrib><title>Multiple Sulfatase Deficiency: Clinical, Neuropathological, Ultrastructural and Biochemical Studies</title><title>Journal of neuropathology and experimental neurology</title><addtitle>J Neuropathol Exp Neurol</addtitle><description>We describe the clinical, pathological, ultrastructural and biochemical features in the case of a 1 S-year-old boy with multiple sulfatase deficiency. Clinical abnormalities included hypotonia, retarded psychomotor development, hepatosplenomegaly, pigmentary degeneration of the retina, myoclonic seizures, aortic insufficiency and quadriplegia. Urinalysis revealed increased heparan sulfate. At necropsy, aortic and mitral valves revealed nodular thickening and periodic acid-Schiff (PAS)-positive, metachromatic granules in renal proximal tubules. The brain weighed 400 g and demonstrated cerebral and cerebellar atrophy with a retrocerebellar meningeal cyst. Cortical neurons contained periodic acid-Schiff-positive and cresyl violetreactive granules. White matter demonstrated brown metachromasia and intense fibrillary gliosis. Conjunctival fibroblasts contained amorphous vacuoles with dense osmiophilic nucleoid cores. Pleomorphic extracellular, intraneural and intraglial inclusions were noted in the brain. Activities of arylsulfatase A, B and C were diminished markedly in autopsied tissue from brain, liver, and kidney (0, 0 and<10% of control activities, respectively). Partial deficiencies of iduronate sulfatase and heparan sulfatase were noted in different tissues. Variable decreased enzyme activities were expressed in leukocytesarylsulfatase A, 33% B, 40% and C, 90% heparan sulfatase, 2% and iduronate sulfatase was not detectable. Near normal activities were found in cultured fibroblasts.</description><subject>Adolescent</subject><subject>Atrophy</subject><subject>Biological and medical sciences</subject><subject>Brain - metabolism</subject><subject>Brain - pathology</subject><subject>Brain - ultrastructure</subject><subject>Cerebellum - pathology</subject><subject>Conjunctiva - ultrastructure</subject><subject>Errors of metabolism</subject><subject>Humans</subject><subject>Kidney - ultrastructure</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Myelin Sheath - pathology</subject><subject>Staining and Labeling</subject><subject>Sulfatases - deficiency</subject><subject>Sulfatases - metabolism</subject><issn>0022-3069</issn><issn>1554-6578</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1990</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kUtP3DAUhS3Uik4pPwEpG7oirR-5sd1dGQqtRGFBWVu243QMnmTwQ4h_T4YMZVVvrnzOd6-tcxGqCP5CsORf8XQAc1oTKTHm061-kfbQggA0dQtcvEMLjCmtGW7lB_QxpbuJkFg2-2iftLKBBi-Q_V1C9pvgqpsSep11ctWZ6731brBP36pl8IO3OpxUV67EcaPzagzj31m6DTnqlGOxuUQdKj101akf7cqtt0B1k0vnXfqE3vc6JHe4qwfo9vzHn-XP-vL64tfy-2VtmQCotbGi46TrsAAieg5tAww0N2Aoo1gCo5JTQ1oD0BpjeswmS2DJpKC669gB-jzP3cTxobiU1don60LQgxtLUlwKELSVEyhm0MYxpeh6tYl-reOTIlht81Wv-ap_-c7S1Hq0e6OYteveGudAJ_945-s0RdBHPVif3jAJjZB8-4Vm5h7HkF1M96E8uqhWToe8Uv9bL3sGvmWSgg</recordid><startdate>199007</startdate><enddate>199007</enddate><creator>Guerra, Wayne F</creator><creator>Verity, M Anthony</creator><creator>Philippart, Michel</creator><creator>Fluharty, Arvan L</creator><creator>Nguyen, Hao T</creator><general>American Association of Neuropathologists, Inc</general><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199007</creationdate><title>Multiple Sulfatase Deficiency: Clinical, Neuropathological, Ultrastructural and Biochemical Studies</title><author>Guerra, Wayne F ; Verity, M Anthony ; Philippart, Michel ; Fluharty, Arvan L ; Nguyen, Hao T</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3855-abc8d71dd08518f7564535a7b5b23209532972b16b556bbbf03b5b8093982add3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1990</creationdate><topic>Adolescent</topic><topic>Atrophy</topic><topic>Biological and medical sciences</topic><topic>Brain - metabolism</topic><topic>Brain - pathology</topic><topic>Brain - ultrastructure</topic><topic>Cerebellum - pathology</topic><topic>Conjunctiva - ultrastructure</topic><topic>Errors of metabolism</topic><topic>Humans</topic><topic>Kidney - ultrastructure</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Myelin Sheath - pathology</topic><topic>Staining and Labeling</topic><topic>Sulfatases - deficiency</topic><topic>Sulfatases - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Guerra, Wayne F</creatorcontrib><creatorcontrib>Verity, M Anthony</creatorcontrib><creatorcontrib>Philippart, Michel</creatorcontrib><creatorcontrib>Fluharty, Arvan L</creatorcontrib><creatorcontrib>Nguyen, Hao T</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of neuropathology and experimental neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Guerra, Wayne F</au><au>Verity, M Anthony</au><au>Philippart, Michel</au><au>Fluharty, Arvan L</au><au>Nguyen, Hao T</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Multiple Sulfatase Deficiency: Clinical, Neuropathological, Ultrastructural and Biochemical Studies</atitle><jtitle>Journal of neuropathology and experimental neurology</jtitle><addtitle>J Neuropathol Exp Neurol</addtitle><date>1990-07</date><risdate>1990</risdate><volume>49</volume><issue>4</issue><spage>406</spage><epage>423</epage><pages>406-423</pages><issn>0022-3069</issn><eissn>1554-6578</eissn><coden>JNENAD</coden><abstract>We describe the clinical, pathological, ultrastructural and biochemical features in the case of a 1 S-year-old boy with multiple sulfatase deficiency. Clinical abnormalities included hypotonia, retarded psychomotor development, hepatosplenomegaly, pigmentary degeneration of the retina, myoclonic seizures, aortic insufficiency and quadriplegia. Urinalysis revealed increased heparan sulfate. At necropsy, aortic and mitral valves revealed nodular thickening and periodic acid-Schiff (PAS)-positive, metachromatic granules in renal proximal tubules. The brain weighed 400 g and demonstrated cerebral and cerebellar atrophy with a retrocerebellar meningeal cyst. Cortical neurons contained periodic acid-Schiff-positive and cresyl violetreactive granules. White matter demonstrated brown metachromasia and intense fibrillary gliosis. Conjunctival fibroblasts contained amorphous vacuoles with dense osmiophilic nucleoid cores. Pleomorphic extracellular, intraneural and intraglial inclusions were noted in the brain. Activities of arylsulfatase A, B and C were diminished markedly in autopsied tissue from brain, liver, and kidney (0, 0 and<10% of control activities, respectively). Partial deficiencies of iduronate sulfatase and heparan sulfatase were noted in different tissues. Variable decreased enzyme activities were expressed in leukocytesarylsulfatase A, 33% B, 40% and C, 90% heparan sulfatase, 2% and iduronate sulfatase was not detectable. Near normal activities were found in cultured fibroblasts.</abstract><cop>Hagerstown, MD</cop><pub>American Association of Neuropathologists, Inc</pub><pmid>1694540</pmid><doi>10.1097/00005072-199007000-00005</doi><tpages>18</tpages></addata></record> |
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| source | MEDLINE; Oxford University Press Journals Digital Archive Legacy; Journals@Ovid Complete |
| subjects | Adolescent Atrophy Biological and medical sciences Brain - metabolism Brain - pathology Brain - ultrastructure Cerebellum - pathology Conjunctiva - ultrastructure Errors of metabolism Humans Kidney - ultrastructure Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Myelin Sheath - pathology Staining and Labeling Sulfatases - deficiency Sulfatases - metabolism |
| title | Multiple Sulfatase Deficiency: Clinical, Neuropathological, Ultrastructural and Biochemical Studies |
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