Metachromatic leukodystrophy
Metachromatic leukodystrophy or Scholz′s disease is a rare disorder transmitted as an autosomal recessive trait, leading to demyelination and neurological impairment. An 18-year-old boy was brought to the psychiatry out-patient department with a history of progressive decline of cognitive functions...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2013-01-01
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| Series: | Muller Journal of Medical Sciences and Research |
| Subjects: | |
| Online Access: | http://www.mjmsr.net/article.asp?issn=0975-9727;year=2013;volume=4;issue=2;spage=113;epage=115;aulast=DD′souza |
| _version_ | 1818892842507960320 |
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| author | Prima Cheryl D′souza Archanaa Vignesh K Subaschandra P John Mathai |
| author_facet | Prima Cheryl D′souza Archanaa Vignesh K Subaschandra P John Mathai |
| author_sort | Prima Cheryl D′souza |
| collection | DOAJ |
| description | Metachromatic leukodystrophy or Scholz′s disease is a rare disorder transmitted as an autosomal recessive trait, leading to demyelination and neurological impairment. An 18-year-old boy was brought to the psychiatry out-patient department with a history of progressive decline of cognitive functions and self-help skills since 8 years. On examination, the patient was alert, easily distractible, and restless with stereotypic movements of the head. He was unable to speak, able to comprehend simple commands but not complex instructions and had an inappropriate affect. EEG revealed frequent intermittent clusters of biphasic spike-slow wave and sharpish discharges arising from bilateral fronto - centro - temporal regions. MRI brain showed non-enhancing altered signal intensity involving bilateral periventricular deep white matter, with a possibility of metachromatic leukodystrophy. Metachromatic leukodystrophy is a progressive demyelinating disorder which may present with cognitive or behavioral symptoms. It may be misdiagnosed as a psychiatric disorder, delaying intervention, leading to unnecessary exposure to neuroleptics and increasing financial burden for the family. |
| first_indexed | 2024-12-19T18:03:08Z |
| format | Article |
| id | doaj.art-34ba4b773d9c4b25911fecaa48c2b4de |
| institution | Directory Open Access Journal |
| issn | 0975-9727 |
| language | English |
| last_indexed | 2024-12-19T18:03:08Z |
| publishDate | 2013-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Muller Journal of Medical Sciences and Research |
| spelling | doaj.art-34ba4b773d9c4b25911fecaa48c2b4de2022-12-21T20:11:33ZengWolters Kluwer Medknow PublicationsMuller Journal of Medical Sciences and Research0975-97272013-01-014211311510.4103/0975-9727.118242Metachromatic leukodystrophyPrima Cheryl D′souzaArchanaa VigneshK SubaschandraP John MathaiMetachromatic leukodystrophy or Scholz′s disease is a rare disorder transmitted as an autosomal recessive trait, leading to demyelination and neurological impairment. An 18-year-old boy was brought to the psychiatry out-patient department with a history of progressive decline of cognitive functions and self-help skills since 8 years. On examination, the patient was alert, easily distractible, and restless with stereotypic movements of the head. He was unable to speak, able to comprehend simple commands but not complex instructions and had an inappropriate affect. EEG revealed frequent intermittent clusters of biphasic spike-slow wave and sharpish discharges arising from bilateral fronto - centro - temporal regions. MRI brain showed non-enhancing altered signal intensity involving bilateral periventricular deep white matter, with a possibility of metachromatic leukodystrophy. Metachromatic leukodystrophy is a progressive demyelinating disorder which may present with cognitive or behavioral symptoms. It may be misdiagnosed as a psychiatric disorder, delaying intervention, leading to unnecessary exposure to neuroleptics and increasing financial burden for the family.http://www.mjmsr.net/article.asp?issn=0975-9727;year=2013;volume=4;issue=2;spage=113;epage=115;aulast=DD′souzaCognitive declinedemyelinating disordermetachromatic leukodystrophy |
| spellingShingle | Prima Cheryl D′souza Archanaa Vignesh K Subaschandra P John Mathai Metachromatic leukodystrophy Muller Journal of Medical Sciences and Research Cognitive decline demyelinating disorder metachromatic leukodystrophy |
| title | Metachromatic leukodystrophy |
| title_full | Metachromatic leukodystrophy |
| title_fullStr | Metachromatic leukodystrophy |
| title_full_unstemmed | Metachromatic leukodystrophy |
| title_short | Metachromatic leukodystrophy |
| title_sort | metachromatic leukodystrophy |
| topic | Cognitive decline demyelinating disorder metachromatic leukodystrophy |
| url | http://www.mjmsr.net/article.asp?issn=0975-9727;year=2013;volume=4;issue=2;spage=113;epage=115;aulast=DD′souza |
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