Adult metachromatic leukodystrophy: case report
Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups. Currently, several forms of the disease are established: late infantile (the most common), juvenile (early and late), and adult, which manifes...
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| Format: | Article |
| Language: | Russian |
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IMA-PRESS LLC
2021-04-01
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| Series: | Неврология, нейропсихиатрия, психосоматика |
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| Online Access: | https://nnp.ima-press.net/nnp/article/view/1545 |
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| author | T. I. Prusova P. A. Reznichenko K. D. Yakovleva D. V. Dmitrenko |
| author_facet | T. I. Prusova P. A. Reznichenko K. D. Yakovleva D. V. Dmitrenko |
| author_sort | T. I. Prusova |
| collection | DOAJ |
| description | Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups. Currently, several forms of the disease are established: late infantile (the most common), juvenile (early and late), and adult, which manifests after the age of 16 years. This case report demonstrates an adult MLD in a 24-year-old woman presented with cognitive impairment, including memory deficits, judgement, communication, and self-care skills decline. Magnetic resonance imaging findings revealed massive symmetrical periventricular white matter lesions without signs of brainstem involvement and increased lactate level. Whole exome sequencing revealed two ARSA gene mutations. Clinical and genetic characteristics of the adult MLD and modern treatment approaches are discussed. |
| first_indexed | 2024-04-10T02:01:11Z |
| format | Article |
| id | doaj.art-aa5d250bdd324e08a75f7613e05221c9 |
| institution | Directory Open Access Journal |
| issn | 2074-2711 2310-1342 |
| language | Russian |
| last_indexed | 2024-04-10T02:01:11Z |
| publishDate | 2021-04-01 |
| publisher | IMA-PRESS LLC |
| record_format | Article |
| series | Неврология, нейропсихиатрия, психосоматика |
| spelling | doaj.art-aa5d250bdd324e08a75f7613e05221c92023-03-13T08:42:21ZrusIMA-PRESS LLCНеврология, нейропсихиатрия, психосоматика2074-27112310-13422021-04-01132869010.14412/2074-2711-2021-2-86-901116Adult metachromatic leukodystrophy: case reportT. I. Prusova0P. A. Reznichenko1K. D. Yakovleva2D. V. Dmitrenko3V.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian FederationV.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian FederationV.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian FederationV.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian FederationMetachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups. Currently, several forms of the disease are established: late infantile (the most common), juvenile (early and late), and adult, which manifests after the age of 16 years. This case report demonstrates an adult MLD in a 24-year-old woman presented with cognitive impairment, including memory deficits, judgement, communication, and self-care skills decline. Magnetic resonance imaging findings revealed massive symmetrical periventricular white matter lesions without signs of brainstem involvement and increased lactate level. Whole exome sequencing revealed two ARSA gene mutations. Clinical and genetic characteristics of the adult MLD and modern treatment approaches are discussed.https://nnp.ima-press.net/nnp/article/view/1545metachromatic leukodystrophyadult formarylsulfatase acognitive impairmenthematopoietic stem cell transplantation |
| spellingShingle | T. I. Prusova P. A. Reznichenko K. D. Yakovleva D. V. Dmitrenko Adult metachromatic leukodystrophy: case report Неврология, нейропсихиатрия, психосоматика metachromatic leukodystrophy adult form arylsulfatase a cognitive impairment hematopoietic stem cell transplantation |
| title | Adult metachromatic leukodystrophy: case report |
| title_full | Adult metachromatic leukodystrophy: case report |
| title_fullStr | Adult metachromatic leukodystrophy: case report |
| title_full_unstemmed | Adult metachromatic leukodystrophy: case report |
| title_short | Adult metachromatic leukodystrophy: case report |
| title_sort | adult metachromatic leukodystrophy case report |
| topic | metachromatic leukodystrophy adult form arylsulfatase a cognitive impairment hematopoietic stem cell transplantation |
| url | https://nnp.ima-press.net/nnp/article/view/1545 |
| work_keys_str_mv | AT tiprusova adultmetachromaticleukodystrophycasereport AT pareznichenko adultmetachromaticleukodystrophycasereport AT kdyakovleva adultmetachromaticleukodystrophycasereport AT dvdmitrenko adultmetachromaticleukodystrophycasereport |