Results in CNS, peripheral nervous system (PNS) demyelination
3 clinical forms: Late infantile (most common), juvenile, adult
IMAGING
General Features
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Wolf NI et al: Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction. Ann Clin Transl Neurol. 7(2):169-80, 2020
Beerepoot S et al: Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective. Orphanet J Rare Dis. 14(1):240, 2019
van Rappard DF et al: Diffusion tensor imaging in metachromatic leukodystrophy. J Neurol. 265(3):659-68, 2018
van Rappard DF et al: Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment. J Neurol Neurosurg Psychiatry. 89(1):105-11, 2018
Gonorazky HD et al: Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. Muscle Nerve. 56(5):E41-4, 2017
Kim J et al: Gallbladder abnormalities in children with metachromatic leukodystrophy. J Surg Res. 208:187-91, 2017
Grimm A et al: Thickening of the peripheral nerves in metachromatic leukodystrophy. J Neurol Sci. 368:399-401, 2016
Groeschel S et al: Long-term outcome of allogeneic hematopoietic stem cell transplantation in patients with juvenile metachromatic leukodystrophy compared with nontransplanted control patients. JAMA Neurol. 73(9):1133-40, 2016
Singh P et al: Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy. J Pediatr Neurosci. 11(2):131-3, 2016
van Rappard DF et al: Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy. Neurology. 87(1):103-11, 2016
Aronovich EL et al: Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. Mol Genet Metab. 114(2):83-93, 2015
Zerah M et al: Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in nonhuman primates. Hum Gene Ther Clin Dev. 26(2):113-24, 2015
Ahmed RM et al: A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry. 85(7):770-81, 2014
Musolino PL et al: Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 45(3):169-74, 2014
Müller vom Hagen J et al: Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients. Eur J Neurol. 21(7):983-8, 2014
van Egmond ME et al: Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy. JAMA Neurol. 70(6):779-82, 2013
Groeschel S et al: Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology. 79(16):1662-70, 2012
Gieselmann V et al: Metachromatic leukodystrophy--an update. Neuropediatrics. 41(1):1-6, 2010
Haberlandt E et al: Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy. Eur J Paediatr Neurol. 13(3):257-60, 2009
Singh RK et al: Isolated cranial nerve enhancement in metachromatic leukodystrophy. Pediatr Neurol. 40(5):380-2, 2009
Biffi A et al: Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet. 74(4):349-57, 2008
Lagranha VL et al: In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells. Metab Brain Dis. 23(4):469-84, 2008
Pierson TM et al: Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol. 64(5):583-7, 2008
Görg M et al: Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. J Child Neurol. 22(9):1139-42, 2007
Maia AC Jr et al: Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy. AJNR Am J Neuroradiol. 28(6):999, 2007
van der Voorn JP et al: Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. AJNR Am J Neuroradiol. 26(3):442-6, 2005
Gallo S et al: Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. J Neurol Neurosurg Psychiatry. 75(4):655-7, 2004
Engelbrecht V et al: Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with WM diseases. Radiology. 222(2):410-8, 2002
Results in CNS, peripheral nervous system (PNS) demyelination
3 clinical forms: Late infantile (most common), juvenile, adult
IMAGING
General Features
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Wolf NI et al: Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction. Ann Clin Transl Neurol. 7(2):169-80, 2020
Beerepoot S et al: Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective. Orphanet J Rare Dis. 14(1):240, 2019
van Rappard DF et al: Diffusion tensor imaging in metachromatic leukodystrophy. J Neurol. 265(3):659-68, 2018
van Rappard DF et al: Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment. J Neurol Neurosurg Psychiatry. 89(1):105-11, 2018
Gonorazky HD et al: Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. Muscle Nerve. 56(5):E41-4, 2017
Kim J et al: Gallbladder abnormalities in children with metachromatic leukodystrophy. J Surg Res. 208:187-91, 2017
Grimm A et al: Thickening of the peripheral nerves in metachromatic leukodystrophy. J Neurol Sci. 368:399-401, 2016
Groeschel S et al: Long-term outcome of allogeneic hematopoietic stem cell transplantation in patients with juvenile metachromatic leukodystrophy compared with nontransplanted control patients. JAMA Neurol. 73(9):1133-40, 2016
Singh P et al: Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy. J Pediatr Neurosci. 11(2):131-3, 2016
van Rappard DF et al: Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy. Neurology. 87(1):103-11, 2016
Aronovich EL et al: Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. Mol Genet Metab. 114(2):83-93, 2015
Zerah M et al: Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in nonhuman primates. Hum Gene Ther Clin Dev. 26(2):113-24, 2015
Ahmed RM et al: A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry. 85(7):770-81, 2014
Musolino PL et al: Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 45(3):169-74, 2014
Müller vom Hagen J et al: Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients. Eur J Neurol. 21(7):983-8, 2014
van Egmond ME et al: Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy. JAMA Neurol. 70(6):779-82, 2013
Groeschel S et al: Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology. 79(16):1662-70, 2012
Gieselmann V et al: Metachromatic leukodystrophy--an update. Neuropediatrics. 41(1):1-6, 2010
Haberlandt E et al: Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy. Eur J Paediatr Neurol. 13(3):257-60, 2009
Singh RK et al: Isolated cranial nerve enhancement in metachromatic leukodystrophy. Pediatr Neurol. 40(5):380-2, 2009
Biffi A et al: Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet. 74(4):349-57, 2008
Lagranha VL et al: In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells. Metab Brain Dis. 23(4):469-84, 2008
Pierson TM et al: Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol. 64(5):583-7, 2008
Görg M et al: Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. J Child Neurol. 22(9):1139-42, 2007
Maia AC Jr et al: Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy. AJNR Am J Neuroradiol. 28(6):999, 2007
van der Voorn JP et al: Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. AJNR Am J Neuroradiol. 26(3):442-6, 2005
Gallo S et al: Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. J Neurol Neurosurg Psychiatry. 75(4):655-7, 2004
Engelbrecht V et al: Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with WM diseases. Radiology. 222(2):410-8, 2002