Chronic neuronopathic type of Gaucher’s disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement
Introduction Gaucher’s disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher’s disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by...
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| Veröffentlicht in: | Scottish medical journal 2014-05, Vol.59 (2), p.e1-e6 |
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| creator | Botross, Nevein Philip Riad, Amgad Abadir Viswanathan, Shanthi Nordin, Rusli Bin Lock, HN |
| description | Introduction
Gaucher’s disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher’s disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic–clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life.
Case presentation
We describe a case of a 17-year-old girl who was born normally but subsequently developed treatment-refractory seizures at the age of nine with myoclonus, oculomotor apraxia, ataxia and cognitive decline. Enzyme activity of beta-glucocerebrosidase was found to be low without visceromegaly or bone involvement.
Conclusion
Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy. |
| doi_str_mv | 10.1177/0036933014529868 |
| format | Article |
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Gaucher’s disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher’s disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic–clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life.
Case presentation
We describe a case of a 17-year-old girl who was born normally but subsequently developed treatment-refractory seizures at the age of nine with myoclonus, oculomotor apraxia, ataxia and cognitive decline. Enzyme activity of beta-glucocerebrosidase was found to be low without visceromegaly or bone involvement.
Conclusion
Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy.</description><identifier>ISSN: 0036-9330</identifier><identifier>EISSN: 2045-6441</identifier><identifier>DOI: 10.1177/0036933014529868</identifier><identifier>PMID: 24671628</identifier><language>eng</language><publisher>London, England: SAGE Publications</publisher><subject>Adolescent ; Apraxias - diagnosis ; Apraxias - physiopathology ; Ataxia - diagnosis ; Ataxia - physiopathology ; Cognition Disorders - enzymology ; Cognition Disorders - etiology ; Cognition Disorders - physiopathology ; Disease Progression ; Female ; Functional Neuroimaging ; Gaucher Disease - diagnosis ; Gaucher Disease - enzymology ; Gaucher Disease - physiopathology ; Glucosylceramidase - metabolism ; Humans ; Myoclonic Epilepsies, Progressive - diagnosis ; Myoclonic Epilepsies, Progressive - enzymology ; Myoclonic Epilepsies, Progressive - physiopathology</subject><ispartof>Scottish medical journal, 2014-05, Vol.59 (2), p.e1-e6</ispartof><rights>The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c337t-4df4932885888092f5b9ee39fafd90f9f2656804e77e35d2b045c6d6bc08284c3</citedby><cites>FETCH-LOGICAL-c337t-4df4932885888092f5b9ee39fafd90f9f2656804e77e35d2b045c6d6bc08284c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/0036933014529868$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/0036933014529868$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,777,781,21800,27905,27906,43602,43603</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24671628$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Botross, Nevein Philip</creatorcontrib><creatorcontrib>Riad, Amgad Abadir</creatorcontrib><creatorcontrib>Viswanathan, Shanthi</creatorcontrib><creatorcontrib>Nordin, Rusli Bin</creatorcontrib><creatorcontrib>Lock, HN</creatorcontrib><title>Chronic neuronopathic type of Gaucher’s disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement</title><title>Scottish medical journal</title><addtitle>Scott Med J</addtitle><description>Introduction
Gaucher’s disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher’s disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic–clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life.
Case presentation
We describe a case of a 17-year-old girl who was born normally but subsequently developed treatment-refractory seizures at the age of nine with myoclonus, oculomotor apraxia, ataxia and cognitive decline. Enzyme activity of beta-glucocerebrosidase was found to be low without visceromegaly or bone involvement.
Conclusion
Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy.</description><subject>Adolescent</subject><subject>Apraxias - diagnosis</subject><subject>Apraxias - physiopathology</subject><subject>Ataxia - diagnosis</subject><subject>Ataxia - physiopathology</subject><subject>Cognition Disorders - enzymology</subject><subject>Cognition Disorders - etiology</subject><subject>Cognition Disorders - physiopathology</subject><subject>Disease Progression</subject><subject>Female</subject><subject>Functional Neuroimaging</subject><subject>Gaucher Disease - diagnosis</subject><subject>Gaucher Disease - enzymology</subject><subject>Gaucher Disease - physiopathology</subject><subject>Glucosylceramidase - metabolism</subject><subject>Humans</subject><subject>Myoclonic Epilepsies, Progressive - diagnosis</subject><subject>Myoclonic Epilepsies, Progressive - enzymology</subject><subject>Myoclonic Epilepsies, Progressive - physiopathology</subject><issn>0036-9330</issn><issn>2045-6441</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kb9u2zAQh4miQWMk3jMVHLuo4T9R1BgYrRsgQJZmFijqaKmQSIWUHGjrnDfI6_VJSttphgCdSOL33QfeHUJXlHyltCiuCeGy5JxQkbNSSfUBrRgReSaFoB_R6hBnh_wcrWPsapJCyoWSn9A5E7KgkqkVet60wbvOYAdzuvhRT216TcsI2Fu81bNpIfz5_RJx00XQEfBTN7V4DH4XIHn3gIfFm_4ogbHrYYwL7hyeWsC6juDM0bTvooHgB9jpfsHaNbj2DhK49_0eBnDTJTqzuo-wfj0v0MP3bz83P7K7--3t5uYuM5wXUyYaK0rOlMqVUqRkNq9LAF5abZuS2NIymUtFBBQF8LxhdZqJkY2sDVFMCcMv0JeTN_XwOEOcquHwt77XDvwcK5ozwQUTNE8oOaEm-BgD2GoM3aDDUlFSHZZQvV9CKvn8ap_rAZq3gn8jT0B2AqLeQfXLz8Glbv8v_Avy75IX</recordid><startdate>20140501</startdate><enddate>20140501</enddate><creator>Botross, Nevein Philip</creator><creator>Riad, Amgad Abadir</creator><creator>Viswanathan, Shanthi</creator><creator>Nordin, Rusli Bin</creator><creator>Lock, HN</creator><general>SAGE Publications</general><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>20140501</creationdate><title>Chronic neuronopathic type of Gaucher’s disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement</title><author>Botross, Nevein Philip ; Riad, Amgad Abadir ; Viswanathan, Shanthi ; Nordin, Rusli Bin ; Lock, HN</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c337t-4df4932885888092f5b9ee39fafd90f9f2656804e77e35d2b045c6d6bc08284c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Apraxias - diagnosis</topic><topic>Apraxias - physiopathology</topic><topic>Ataxia - diagnosis</topic><topic>Ataxia - physiopathology</topic><topic>Cognition Disorders - enzymology</topic><topic>Cognition Disorders - etiology</topic><topic>Cognition Disorders - physiopathology</topic><topic>Disease Progression</topic><topic>Female</topic><topic>Functional Neuroimaging</topic><topic>Gaucher Disease - diagnosis</topic><topic>Gaucher Disease - enzymology</topic><topic>Gaucher Disease - physiopathology</topic><topic>Glucosylceramidase - metabolism</topic><topic>Humans</topic><topic>Myoclonic Epilepsies, Progressive - diagnosis</topic><topic>Myoclonic Epilepsies, Progressive - enzymology</topic><topic>Myoclonic Epilepsies, Progressive - physiopathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Botross, Nevein Philip</creatorcontrib><creatorcontrib>Riad, Amgad Abadir</creatorcontrib><creatorcontrib>Viswanathan, Shanthi</creatorcontrib><creatorcontrib>Nordin, Rusli Bin</creatorcontrib><creatorcontrib>Lock, HN</creatorcontrib><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>Scottish medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Botross, Nevein Philip</au><au>Riad, Amgad Abadir</au><au>Viswanathan, Shanthi</au><au>Nordin, Rusli Bin</au><au>Lock, HN</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Chronic neuronopathic type of Gaucher’s disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement</atitle><jtitle>Scottish medical journal</jtitle><addtitle>Scott Med J</addtitle><date>2014-05-01</date><risdate>2014</risdate><volume>59</volume><issue>2</issue><spage>e1</spage><epage>e6</epage><pages>e1-e6</pages><issn>0036-9330</issn><eissn>2045-6441</eissn><abstract>Introduction
Gaucher’s disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher’s disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic–clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life.
Case presentation
We describe a case of a 17-year-old girl who was born normally but subsequently developed treatment-refractory seizures at the age of nine with myoclonus, oculomotor apraxia, ataxia and cognitive decline. Enzyme activity of beta-glucocerebrosidase was found to be low without visceromegaly or bone involvement.
Conclusion
Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy.</abstract><cop>London, England</cop><pub>SAGE Publications</pub><pmid>24671628</pmid><doi>10.1177/0036933014529868</doi></addata></record> |
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| subjects | Adolescent Apraxias - diagnosis Apraxias - physiopathology Ataxia - diagnosis Ataxia - physiopathology Cognition Disorders - enzymology Cognition Disorders - etiology Cognition Disorders - physiopathology Disease Progression Female Functional Neuroimaging Gaucher Disease - diagnosis Gaucher Disease - enzymology Gaucher Disease - physiopathology Glucosylceramidase - metabolism Humans Myoclonic Epilepsies, Progressive - diagnosis Myoclonic Epilepsies, Progressive - enzymology Myoclonic Epilepsies, Progressive - physiopathology |
| title | Chronic neuronopathic type of Gaucher’s disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement |
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