Volume 6, Issue 1 (Journal of Clinical and Basic Research (JCBR) 2022)
jcbr 2022, 6(1): 32-36 |
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Hosseini S A, Rahafard S, Kia A. A Case of Late Infantile Metachromatic Leukodystrophy Presenting with Gradually-onset Paraplegia. jcbr 2022; 6 (1) :32-36
URL: http://jcbr.goums.ac.ir/article-1-353-en.html
URL: http://jcbr.goums.ac.ir/article-1-353-en.html
1- Neonatal & Children's Health Research Center , Golestan University of Medical Sciences, Gorgan , Iran
2- Neonatal & Children's Health Research Center , Golestan University of Medical Sciences, Gorgan , Iran , dr.rahafrd@gmail.com
3- Mehregan Imaging Centre , Gorgan , Iran
2- Neonatal & Children's Health Research Center , Golestan University of Medical Sciences, Gorgan , Iran , dr.rahafrd@gmail.com
3- Mehregan Imaging Centre , Gorgan , Iran
Abstract: (1740 Views)
Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disease, with an estimated prevalence rate of 1 per 40,000 to 160,000 worldwide. Progressive alteration in motor and cognitive functions is the most common clinical presentation. Late infantile MLD is the most common form of the disease that presents with a progressive decrease in visual acuity, impaired swallowing, muscle rigidity, seizures, and developmental delays. We herein present a rare case of late infantile MLD in a four-and-half-year-old male patient presenting with gradually-onset paraplegia.
Case description: The patient had normal growth and neurodevelopmental pattern until 15 months of age. Afterward, he had a gradually increasing abnormality in gate and finally became paralyzed since the age of three years. The patient was also suffering from dysphagia, bilateral ptosis, and bad temperament. Normal metabolic test, myopathies, and brain MRI findings led to the diagnosis of MLD with gradually-onset paraplegia.
Conclusion: Generally, early diagnosis of MLD may increase the chance of recovery from the disease. We suggest considering MLD in patients suffering from behavioral, visual, and motor regressions, especially those with normal metabolic tests.
Case description: The patient had normal growth and neurodevelopmental pattern until 15 months of age. Afterward, he had a gradually increasing abnormality in gate and finally became paralyzed since the age of three years. The patient was also suffering from dysphagia, bilateral ptosis, and bad temperament. Normal metabolic test, myopathies, and brain MRI findings led to the diagnosis of MLD with gradually-onset paraplegia.
Conclusion: Generally, early diagnosis of MLD may increase the chance of recovery from the disease. We suggest considering MLD in patients suffering from behavioral, visual, and motor regressions, especially those with normal metabolic tests.
Keywords: Lysosomal storage diseases, Metachromatic leukodystrophy, Demyelinating disease, Neurodegenerative disease, Late infantile MLD
Article Type: Case report |
Subject:
Medicine
References
1. Shaimardanova AA, Chulpanova DS, Solovyeva VV, Mullagulova AI, Kitaeva KV, Allegrucci C, et al. Metachromatic leukodystrophy: diagnosis, modeling, and treatment approaches. Frontiers in Medicine. 2020;7. [View at Publisher] [DOI] [PMID] [PMCID] [Google Scholar]
2. Rosenberg JB, Kaminsky SM, Aubourg P, Crystal RG, Sondhi D. Gene therapy for metachromatic leukodystrophy. Journal of neuroscience research. 2016;94(11):1169-79. [View at Publisher] [DOI] [PMID] [PMCID] [Google Scholar]
3. Mallick A, Godil A, Khetpal A, Rizvi AH, Khan F. Infantile metachromatic leukodystrophy in an 18 month old girl. JPMA The Journal of the Pakistan Medical Association. 2016;66(9):1197-200. [View at Publisher] [Google Scholar]
4. Gieselmann V, Krägeloh-Mann I. Metachromatic leukodystrophy-an update. Neuropediatrics. 2010;41(01):1-6. [View at Publisher] [DOI] [PMID] [Google Scholar]
5. van Rappard D. Mind the Metachromatic leukodystrophy: Natural evolution and treatment effects. 2018. [Google Scholar]
6. Batzios SP, Zafeiriou DI. Developing treatment options for metachromatic leukodystrophy. Molecular genetics and metabolism. 2012;105(1):56-63. [View at Publisher] [DOI] [PMID] [Google Scholar]
7. Cesani M, Lorioli L, Grossi S, Amico G, Fumagalli F, Spiga I, et al. Mutation update of ARSA and PSAP genes causing metachromatic leukodystrophy. Human mutation. 2016;37(1):16-27. [View at Publisher] [DOI] [PMID] [Google Scholar]
8. Wolf NI, Breur M, Plug B, Beerepoot S, Westerveld AS, van Rappard DF, et al. Metachromatic leukodystrophy and transplantation: Remyelination, no cross‐correction. Annals of clinical and translational neurology. 2020;7(2):169-80. [View at Publisher] [DOI] [PMID] [PMCID]
9. Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, et al. Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. Journal of child neurology. 2010;25(5):572-80. [View at Publisher] [DOI] [PMID] [PMCID] [Google Scholar]
10. Borges FM, Costa MJGd, Carneiro ZA, Lourenço CM. Metachromatic leukodystrophy: pediatric presentation and the challenges of early diagnosis. Revista da Associação Médica Brasileira. 2020;66:1344-50. [View at Publisher] [DOI] [PMID] [Google Scholar]
11. Kehrer C, Groeschel S, Kustermann-Kuhn B, Bürger F, Köhler W, Kohlschütter A, et al. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. Orphanet journal of rare diseases. 2014;9(1):1-9. [View at Publisher] [DOI] [PMID] [PMCID] [Google Scholar]
12. JAbbeHDArI S, Rahimian E, Jafari N, Sanii S, Khayatzadehkakhki S, Biglari HN. The clinical features and diagnosis of metachromatic leukodystrophy: A case series of Iranian pediatric patients. Iranian journal of child neurology. 2015;9(3):57. [PubMed] [Google Scholar]
13. Golchin N, Hajjari M, Malamiri RA, Aminzadeh M, Mohammadi-Asl J. Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder. Genetics and Molecular Biology. 2017;40:759-62. [View at Publisher] [DOI] [PMID] [PMCID] [Google Scholar]
14. Barboura I, Hadded S, Chebel S, Mansour RB, Chahed H, Gueddiche M-N, et al. Brain MRI and biological diagnosis in five Tunisians MLD patients. Diagnostic pathology. 2012;7(1):1-5. [View at Publisher] [DOI:] [PMID] [PMCID] [Google Scholar]
15. Groeschel S, Kehrer C, Engel C, í Dali C, Bley A, Steinfeld R, et al. Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course. Journal of inherited metabolic disease. 2011;34(5):1095-102. [View at Publisher] [DOI] [PMID] [Google Scholar]
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