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Metachromatic leukodystrophy, late infantile form

MedGen UID:
155529
Concept ID:
C0751278
Disease or Syndrome
Synonym: Metachromatic leukodystrophy, late infantile
SNOMED CT: Late infantile metachromatic leucodystrophy (47683004); Greenfield disease (47683004); Metachromatic leukodystrophy, congenital type (40802007); Metachromatic leukodystrophy, late infantile type (47683004)
 
Monarch Initiative: MONDO:0017729
OMIM®: 250100; 607574
Orphanet: ORPHA309256

Definition

A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Metachromatic leukodystrophy, late infantile form

Professional guidelines

PubMed

Ben Issa A, Kamoun F, Bouchaala W, Charfi Triki C, Fakhfakh F
Int J Dev Neurosci 2024 Feb;84(1):35-46. Epub 2023 Oct 17 doi: 10.1002/jdn.10306. PMID: 37848385
Baumann N, Turpin JC, Lefevre M, Colsch B
J Physiol Paris 2002 Apr-Jun;96(3-4):301-6. doi: 10.1016/s0928-4257(02)00019-0. PMID: 12445909

Curated

Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.

Recent clinical studies

Etiology

Harrington M, Whalley D, Twiss J, Rushton R, Martin S, Huynh L, Yang H
Orphanet J Rare Dis 2019 Apr 29;14(1):89. doi: 10.1186/s13023-019-1060-2. PMID: 31036045Free PMC Article
Kehrer C, Blumenstock G, Gieselmann V, Krägeloh-Mann I; GERMAN LEUKONET
Dev Med Child Neurol 2011 Sep;53(9):850-855. Epub 2011 Jun 27 doi: 10.1111/j.1469-8749.2011.04028.x. PMID: 21707604
Groeschel S, Kehrer C, Engel C, I Dali C, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I
J Inherit Metab Dis 2011 Oct;34(5):1095-102. Epub 2011 Jun 23 doi: 10.1007/s10545-011-9361-1. PMID: 21698385
Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S257-62. Epub 2010 Jul 2 doi: 10.1007/s10545-010-9140-4. PMID: 20596894
Malone MJ
Pediatr Clin North Am 1976 May;23(2):303-26. doi: 10.1016/s0031-3955(16)33273-4. PMID: 818606

Diagnosis

Beerepoot S, Wolf NI, Wehner K, Bender B, van der Knaap MS, Krägeloh-Mann I, Groeschel S
Eur J Paediatr Neurol 2022 Mar;37:87-93. Epub 2022 Feb 3 doi: 10.1016/j.ejpn.2022.01.020. PMID: 35152000
Martin P, Hagberg GE, Schultz T, Harzer K, Klose U, Bender B, Nägele T, Scheffler K, Krägeloh-Mann I, Groeschel S
Clin Neuroradiol 2021 Dec;31(4):969-980. Epub 2020 Nov 23 doi: 10.1007/s00062-020-00975-2. PMID: 33226437Free PMC Article
Gieselmann V, Krägeloh-Mann I
Neuropediatrics 2010 Feb;41(1):1-6. Epub 2010 Jun 22 doi: 10.1055/s-0030-1253412. PMID: 20571983
Gieselmann V, Polten A, Kreysing J, von Figura K
J Inherit Metab Dis 1994;17(4):500-9. doi: 10.1007/BF00711364. PMID: 7967499
Malone MJ
Pediatr Clin North Am 1976 May;23(2):303-26. doi: 10.1016/s0031-3955(16)33273-4. PMID: 818606

Therapy

Beerepoot S, Wolf NI, Wehner K, Bender B, van der Knaap MS, Krägeloh-Mann I, Groeschel S
Eur J Paediatr Neurol 2022 Mar;37:87-93. Epub 2022 Feb 3 doi: 10.1016/j.ejpn.2022.01.020. PMID: 35152000
Elgün S, Waibel J, Kehrer C, van Rappard D, Böhringer J, Beck-Wödl S, Just J, Schöls L, Wolf N, Krägeloh-Mann I, Groeschel S
Orphanet J Rare Dis 2019 Jun 11;14(1):136. doi: 10.1186/s13023-019-1113-6. PMID: 31186049Free PMC Article
Martin HR, Poe MD, Provenzale JM, Kurtzberg J, Mendizabal A, Escolar ML
Biol Blood Marrow Transplant 2013 Apr;19(4):616-24. Epub 2013 Jan 22 doi: 10.1016/j.bbmt.2013.01.010. PMID: 23348427
Kehrer C, Blumenstock G, Gieselmann V, Krägeloh-Mann I; GERMAN LEUKONET
Dev Med Child Neurol 2011 Sep;53(9):850-855. Epub 2011 Jun 27 doi: 10.1111/j.1469-8749.2011.04028.x. PMID: 21707604
Sevin C, Benraiss A, Van Dam D, Bonnin D, Nagels G, Verot L, Laurendeau I, Vidaud M, Gieselmann V, Vanier M, De Deyn PP, Aubourg P, Cartier N
Hum Mol Genet 2006 Jan 1;15(1):53-64. Epub 2005 Nov 25 doi: 10.1093/hmg/ddi425. PMID: 16311251

Prognosis

Martin P, Hagberg GE, Schultz T, Harzer K, Klose U, Bender B, Nägele T, Scheffler K, Krägeloh-Mann I, Groeschel S
Clin Neuroradiol 2021 Dec;31(4):969-980. Epub 2020 Nov 23 doi: 10.1007/s00062-020-00975-2. PMID: 33226437Free PMC Article
Elgün S, Waibel J, Kehrer C, van Rappard D, Böhringer J, Beck-Wödl S, Just J, Schöls L, Wolf N, Krägeloh-Mann I, Groeschel S
Orphanet J Rare Dis 2019 Jun 11;14(1):136. doi: 10.1186/s13023-019-1113-6. PMID: 31186049Free PMC Article
Dubey R, Chakrabarty B, Gulati S, Sharma MC, Deopujari S, Baheti N, Santosh V, Pai G, Kabra M
Pediatr Neurol 2014 Jun;50(6):616-8. Epub 2014 Jan 16 doi: 10.1016/j.pediatrneurol.2014.01.028. PMID: 24685010
Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S257-62. Epub 2010 Jul 2 doi: 10.1007/s10545-010-9140-4. PMID: 20596894
Malone MJ
Pediatr Clin North Am 1976 May;23(2):303-26. doi: 10.1016/s0031-3955(16)33273-4. PMID: 818606

Clinical prediction guides

Ben Issa A, Kamoun F, Bouchaala W, Charfi Triki C, Fakhfakh F
Int J Dev Neurosci 2024 Feb;84(1):35-46. Epub 2023 Oct 17 doi: 10.1002/jdn.10306. PMID: 37848385
Chapleau A, Mirchi A, Tran LT, Poulin C, Bernard G
Pediatr Neurol 2023 Nov;148:133-137. Epub 2023 Aug 19 doi: 10.1016/j.pediatrneurol.2023.08.013. PMID: 37713976
Beerepoot S, Wolf NI, Wehner K, Bender B, van der Knaap MS, Krägeloh-Mann I, Groeschel S
Eur J Paediatr Neurol 2022 Mar;37:87-93. Epub 2022 Feb 3 doi: 10.1016/j.ejpn.2022.01.020. PMID: 35152000
Groeschel S, Kehrer C, Engel C, I Dali C, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I
J Inherit Metab Dis 2011 Oct;34(5):1095-102. Epub 2011 Jun 23 doi: 10.1007/s10545-011-9361-1. PMID: 21698385
Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S257-62. Epub 2010 Jul 2 doi: 10.1007/s10545-010-9140-4. PMID: 20596894

Recent systematic reviews

Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS
J Child Neurol 2010 May;25(5):572-80. Epub 2009 Dec 28 doi: 10.1177/0883073809341669. PMID: 20038527Free PMC Article

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • AAP, 2021
      Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.

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