Infantile Metachromatic Leukodystrophy: Case Report
Abstract
Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms. We reported a case of a two-year-old male patient with psychomotor retardation history, developmental delay, poor overall performance and imaging findings compatible with Leukodystrophy are presented. The goal of this case report is to identify clinical presentation and typical MRI features to diagnose MLD, in the absence of an enzyme assay or a gene mutation investigation.
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Biomed Pharmacother. France; 1994;48:347–50.
[2]Mahmood A, Chacham S, Reddy UN, Rao JN, Rao SP. A 5-Year-Old Male Child With Late Infantile Metachromatic Leukodystrophy: A Case Report. J Child Neurol [Internet]. SAGE Publications Inc; 2014;30:483–5. Available from: https://doi. org/10.1177/0883073814542948
[3]Alvarez-Pabón Y, Lozano-Jiménez JF, Di Lizio-Miele KG, Contreras- García GA. [Late infantile metachromatic
leukodystrophy: case report]. Arch Argent Pediatr. Argentina; 2019;117:e52–5.
[4]Shaimardanova AA, Chulpanova DS, Solovyeva V V, Mullagulova AI, Kitaeva K V, Allegrucci C, et al. Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. Front Med [Internet]. 2020;7. Available from:
https://www.frontiersin. org/article/10.3389/fmed.2020.576221
[5]Hyde TM, Ziegler JC, Weinberger DR. Psychiatric disturbances in metachromatic leukodystrophy. Insights into the
neurobiology of psychosis. Arch Neurol. (1992) 49:401–6. 10.1001/ archneur.1992.00530280095028 [PubMed] [CrossRef] [Google Scholar]
[6]McFadden K, Ranganathan S. Pathology of the gallbladder
[7] Wanner MR, Karmazyn B, Fan R. Multidetector CT diagnosis of massive hemobilia due to gallbladder
polyposis in a child with metachromatic leukodystrophy. Pediatr Radiol. (2015) 45:2017–20. 10.1007/s00247-015-3411-z [PubMed] [CrossRef] [Google Scholar]
[8]van Rappard DF, Bugiani M, Boelens JJ, van der Steeg
[9]Kim J, Sun Z, Ezekian B, Schooler GR, Prasad VK, Kurtzberg J, et al.. Gallbladder abnormalities in children with
metachromatic leukodystrophy. J Surg Res. (2017) 208:187–91. 10.1016/j. jss.2016.08.081 [PubMed] [CrossRef] [Google Scholar]
[10]van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol. (2017) 134:351– 82. 10.1007/s00401-017-1739-1 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
[11]Almarzooqi S, Quadri A, Albawardi A. Gallbladder polyps in metachromatic leukodystrophy. Fetal Pediatr
Pathol. (2018) 37:102–8. 10.1080/15513815.2018.1424277 [PubMed] [CrossRef] [Google Scholar]
[12]Kurian JJ, Jacob TJK. An unusual presentation of gall bladder papillomatosis in association with metachromatic leukodystrophy. BMJ Case Rep. (2018) 2018:bcr2017224162. 10.1136/bcr-2017-224162 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
[13]Beerepoot S, Nierkens S, Boelens JJ, Lindemans C, Bugiani M, Wolf NI. Peripheral neuropathy in metachromatic
leukodystrophy: current status and future perspective. Orphanet J Rare Dis. (2019) 14:240. 10.1186/s13023-019-1220-4 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
[14] Liaw HR, Lee HF, Chi CS, Tsai CR. Late infantile metachromatic leukodystrophy: clinical manifestations of
five Taiwanese patients and genetic features in Asia. Orphanet J Rare Dis. (2015) 10:144. 10.1186/s13023-015-0363-1 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
[15]Ali Mallick MS, Godil A, Khetpal A, Rizvi AH, Khan F. Infantile metachromatic leukodystrophy in an 18 month old
girl. J Pak Med Assoc. (2016) 66:1197–200. [PubMed] [Google
Scholar]
[16]Barkovich AJ. Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol. (2000) 21:1099– 109. [PMC free article] [PubMed] [Google Scholar]
| Files | ||
| Issue | Vol 8 No 2 (2023): March-April | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v8i2.14087 | |
| Keywords | ||
| Metachromatic Leukodystrophy Arylsulfatase A Lysosomal White matter disease Demyelinating disease | ||
| Rights and permissions | |
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Hamad S, Abufara I, Zagharneh S, Abureesh T, Jobran A. Infantile Metachromatic Leukodystrophy: Case Report. CRCP. 2023;8(2):68-71.
