Adult‐onset mettachromatic leukodystophy presenting as isolated peripheral neuropathy

Fressinaud, Catherine; Jm, Vallat; Masson, Michel; Jauberteau, Marie-Odile; Baumann, N; Huggon, J.

doi:10.1212/wnl.42.7.1396

Cited by 49 publications

(25 citation statements)

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“…Time Alter Onset, y thickness,22 '25 In one patient (patient 6 ) who showed the best-preserved NCVs in our series of patients with adult MLD, accumulation of sulfaticles could be seen on light and electron microscopic examination, but signs of a de myelinating process were minimal, no substantial fiber loss had occurred, and sheath thickness was normal. Com parable findings were reported by Martin et al2fi in a pa tient with adult MLD with moderate slowing of NCVs whose nerve biopsy specimen revealed mild demyelin ation and normal sheath thickness.…”

Section: O M M E N Tmentioning

confidence: 82%

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Clinical Symptoms of Adult Metachromatic Leukodystrophy and Arylsulfatase A Pseudodeficiency

Hageman¹,

Gabreëls²,

Jong³

et al. 1995

Archives of Neurology

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In 13 patients, a diagnosis of adult metachro matic leukodystrophy was made. The main symptoms were dementia, behavioral abnormalities, ataxia, and polyneuropathy. In 12 patients, a diagnosis of arylsul fatase A pseudodeficiency was made. No character istic clinical syndrom e could be detected in these patients, Conclusions: Adult metachromatic leukodystrophy is a progressive metabolic disease with symptoms of demyelination of the central and peripheral nervous sys tems. Diagnosis must be confirmed by determination of arylsulfatase A activity and accumulation of sulfatides. Pseudodeficiency for arylsulfatase A can be confirmed or excluded by means of DNA analysis.

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Section: O M M E N Tmentioning

confidence: 82%

“…In patient 6 , the m yelinated fiber density, the percentage of large fibers, and the myelin thickness were normal. There were few signs of segmental dcmycUnation and remyelination, but accumulation of metachro matic material was in the same range as in most adult and juvenile cases.…”

Section: Rlsuiismentioning

confidence: 88%

Clinical Symptoms of Adult Metachromatic Leukodystrophy and Arylsulfatase A Pseudodeficiency

Hageman¹,

Gabreëls²,

Jong³

et al. 1995

Archives of Neurology

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“…3 Most cases of MLD treated with BMT have hitherto been infantile and early juvenile forms and the best results have been obtained in the presymptomatic cases. 7,12,13 In slowly progressing late juvenile cases with only minor symptoms, a stable clinical, neurophysiological and neuropsychological state has been reported after BMT.…”

Section: Discussionmentioning

confidence: 99%

“…1 Adult MLD may develop as a schizophrenic disorder 2 or it may present as polyneuropathy. 3 Bone marrow transplantation (BMT) is recommended for presymptomatic cases in infants and children with a sibling with MLD and for early cases of juvenile MLD. BMT has been performed in only a few cases of adult MLD.…”

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confidence: 99%

Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy

Solders¹,

Celsing²,

Hagenfeldt³

et al. 1998

Bone Marrow Transplant

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Summary:A 28-year-old woman with a 4 year history of slowly progressing 'frontal dementia' was diagnosed as having adult metachromatic leukodystrophy and was followed for 4 years after bone marrow transplantation (BMT). MRI, neurophysiological tests (EEG, ENeG, VEP, SEP and BAEP) and neuropsychological assessment were performed before, and repeatedly after BMT. MRI showed symmetrical white matter lesions in the frontal and parieto-occipital lobes and in the corpus callosum. EEG showed frontal and temporal slow wave abnormalities and nerve conduction was slow. Neuropsychological tests showed cognitive impairment in executive functions, decline in visuospatial-constructive and spatial memory tasks and disorganized thinking. IQ was low (52), with slightly better values for verbal IQ than for performance IQ. After BMT, the patient was followed for 4 years. Clear improvements were seen in EEG, in peripheral nerve conduction and in neuropsychological tests (especially in verbal IQ). MRI findings were unchanged. We believe that the improvement in our patient resulted from the bone marrow transplantation. Keywords: metachromatic leukodystrophy; bone marrow transplantationIn metachromatic leukodystrophy (MLD), the accumulation of galactosyl sulphatide in lysosomes, due to an inherited deficiency of arylsulphatase A, causes demyelination in the central and peripheral nervous systems. Clinical symptoms vary. Depending on the age at onset of clinical symptoms and on the course of the disease, MLD is classified as late infantile (6 months to 2 years), early juvenile (4 to 6 years), late juvenile (6 to 16 years) and adult (Ͼ16 years) types. In adult MLD, psychiatric symptoms dominate with a change in personality, poor school or job performance and emotional lability. Disorganized thinking and impairment of memory functions then occur and hypomania/depression Correspondence: Dr G Solders, Department of Neurology, Huddinge Hospital, S-141 86 Sweden Received 27 April 1998; accepted 15 July 1998 or psychosis is common. 1 Adult MLD may develop as a schizophrenic disorder 2 or it may present as polyneuropathy. 3 Bone marrow transplantation (BMT) is recommended for presymptomatic cases in infants and children with a sibling with MLD and for early cases of juvenile MLD. BMT has been performed in only a few cases of adult MLD. 4 Case report and methodsA 28-year-old woman with a 4 year history of slowly progressing 'frontal dementia' was diagnosed as having adult metachromatic leukodystrophy. She had previously been healthy, except for slight hypothyroidism, for which she had been treated. She had completed 12 years of school with excellent grades and had started university studies. At 24 years old, she gave birth to twins. After that, her parents noted a slow change in personality, with increasing difficulties in daily living and in caring for her children. Dyscalculia and inertia were observed. She appeared depressed for a while and then developed a schizophreniform state and was referred to a psychiatric clinic. She became progressi...

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“…More recent reports indicate that dementia together with pure neurological symptoms are also prominent [6][7][8]. In rare cases, the disease may start with pure neurological symptoms such as a peripheral demyelinating neuropathy [9,10]. Biopsies of peripheral nerve tissues or of the mucosa of the rectum show accumulation of metachromatic granula.…”

Section: Introductionmentioning

confidence: 99%

Dementia with Impaired Temporal Glucose Metabolism in Late-Onset Metachromatic Leukodystrophy

Johannsen

Ehlers²,

Hansen³

2001

Dement Geriatr Cogn Disord

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An unusual case of very-late-onset metachromatic leukodystrophy (MLD) with dementia was studied. The patient was a 41-year-old male who presented with mild dementia and a single generalized tonic clonic seizure. Neuropsychological assessment demonstrated mild amnesia, visuospatial dysfunction and attention deficits with a slow psychomotor speed. MR brain imaging displayed confluent hyperintensities of periventricular and subcortical white matter. Low levels of arylsulfatase A confirmed the diagnosis. Impaired cortical glucose metabolism especially of the medial temporal and frontal cortices was observed using positron emission tomography and fluor-18-labeled fluorodesoxyglucose. The neuropsychological deficits are related to the location of deficits in glucose metabolism.

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Adult‐onset mettachromatic leukodystophy presenting as isolated peripheral neuropathy

Cited by 49 publications

References 0 publications

Clinical Symptoms of Adult Metachromatic Leukodystrophy and Arylsulfatase A Pseudodeficiency

Clinical Symptoms of Adult Metachromatic Leukodystrophy and Arylsulfatase A Pseudodeficiency

Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy

Dementia with Impaired Temporal Glucose Metabolism in Late-Onset Metachromatic Leukodystrophy

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