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1/25. Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplantation.

    Metachromatic leukodystrophy refers to a group of genetic neurologic diseases caused by deficiencies of the enzyme arylsulfatase A and the resulting accumulation of sulfatides in white matter. bone marrow transplantation has been advocated as a treatment in an attempt to correct the enzyme deficiency. Such a transplant was performed in 1991 in a 16-year-old girl with a form of late juvenile metachromatic leukodystrophy caused by a homozygous P426L mutation in the arylsulfatase A gene. Engraftment was prompt and resulted in constant enzymatic normalization of circulating lymphocytes. The elevated urinary excretion of sulfatides remained unaffected. Clinical findings up until transplantation consisted of gait disturbances, impairment of cognitive functioning, and deterioration in school performance over several years. During a 6-year follow-up period, the patient's condition was subject to major fluctuations but, on the whole, findings showed slow neurologic and neurophysiologic deterioration. The clinical course observed after bone marrow transplantation probably more or less reflects the natural course expected in this form of late-onset metachromatic leukodystrophy.
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2/25. ganciclovir-resistant cytomegalovirus encephalitis in a bone marrow transplant recipient.

    A 20-year-old patient, who received a bone marrow transplant in order to treat metachromatic leukodystrophy (MLD), succumbed to cytomegalovirus (CMV) encephalitis. After CMV viremia developed, the patient received ganciclovir, but he was switched to foscarnet when ganciclovir resistance was suspected. foscarnet was discontinued because of concern about its potential central nervous system toxicity. autopsy samples of brain and cerebrospinal fluid contained CMV dna with a UL97 mutation (M460V) known to confer ganciclovir resistance. No foscarnet resistance mutations were found.
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3/25. adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy.

    A 38-year-old man presented with weakness of the lower limbs. electrophysiology revealed a pronounced demyelinating neuropathy. Nerve biopsy disclosed de- and remyelinating lesions and characteristic lamellar inclusions in schwann cells and macrophages. There was no familial history of neurologic disorder, and impairment of motor evoked potentials was the only sign of CNS involvement. Arylsulfatase A and cerebroside sulfate sulfatase activities in leukocytes and cultures of the patient's fibroblasts were low. The sulfatide loading test also revealed abnormal sulfatide accumulation. This may be the first reported case of adult metachromatic leukodystrophy presenting as peripheral neuropathy.
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4/25. White matter dysfunction and its neuropsychological correlates: a longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant.

    A 10-year-old white female who had received a bone marrow transplant (BMT) at 57 months of age as treatment for late infantile onset metachromatic leukodystrophy (MLD), a neurodegenerative autosomal recessive storage disease, showed stabilization of the cognitive degenerative process and demonstrated a partial pattern of cognitive deficits and behavioral abnormalities that has been called NLD (nonverbal learning disabilities) associated with white matter disease. A pattern of good rote memory, reading skills, and concrete language contrasted with poor visual spatial skills, mathematics, and abstract problem solving. She did not show the usual speech prosody and social deficits associated with NLD.
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5/25. Longitudinal neurophysiologic studies in a patient with metachromatic leukodystrophy following bone marrow transplantation.

    We describe a girl with late infantile metachromatic leukodystrophy. The patient has been followed up with serial neurologic and neurophysiologic examinations for 8 years following bone marrow transplantation, which she underwent when she was 4 3/4 years old. Her older sister died from metachromatic leukodystrophy at the age of 8 years, whereas our patient has retained significant cognitive and motor skills. Serial neurophysiologic studies initially demonstrated continued deterioration after the bone marrow transplantation, but since then, most results have remained stable or improved. Although, to our knowledge, there have been no previous serial studies of metachromatic leukodystrophy, individual case studies suggest that these findings in our patient are very unusual. With the advent of possible treatment for this condition, there is a need for further serial neurophysiologic studies to characterize the natural progression and the possible detection of progression or reversal with treatment.
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6/25. Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics.

    We report two autopsy cases of siblings with adult-onset autosomal dominant leukodystrophy characterized by destruction of cerebral white matter, large numbers of axonal spheroids and pigmented glia in the fronto-temporal lobes. Both patients presented with motor and cognitive symptoms and aphasia, 2-3 years before death. At autopsy, the brain showed brown coloration and decreased volume of white matter in the frontal and temporal lobes as well as corpus callosum. Microscopically, marked loss of myelin and axons and abundant axonal spheroids without apparent neuronal loss were observed in the frontal and temporal lobes, which was consistent with hereditary diffuse leukodystrophy with spheroids (HDLS). In addition, glial cells, most consistent with macrophages and containing pigments that were stained by sudan III and PAS, were found in the white matter lesions. The present cases showed overlapping features with HDLS and pigmentary type of orthochromatic leukodystrophy, suggesting that the pathomechanisms of these two diseases are closely related.
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7/25. Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological study.

    A 7-year-old boy had clinical features of metachromatic leucodystrophy (MLD), however, an increased urinary sulphatide excretion was found in the presence of normal arylsulphatase A (and alpha-galactosidase A) activity. A rectal biopsy showed metachromatically staining storage macrophages as well as nonmetachromatic, but PAS-positive, submucosal neurons filled with membranous cytoplasmic bodies. These two types of storage material led to testing for a sphingolipid activator protein (SAP) deficiency. Loading tests with sulphatide and globotriaosylceramide showed deficient turnover of both sphingolipids in cultured fibroblasts. Using the Ouchterlony method, there was no reactivity between a described anti-SAP 1 antiserum and the patient's fibroblast extracts. This new case of SAP-1 deficient MLD was compared with the four cases of this variant known from the literature. Our results indicate that rectal biopsy morphology and lipid loading biochemistry should prove useful for the screening of SAP defects.
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8/25. Comparative ultrastructural observations on peripheral nerve abnormalities in the late infantile, juvenile and late onset forms of metachromatic leukodystrophy.

    The ultrastructural findings in nerve biopsies from two cases of late onset metachromatic leukodystrophy were compared with those in cases of late infantile and juvenile onset. Hypertrophic changes and regenerating clusters were more evident in the late onset cases, in which macrophages were less frequent, presumably reflecting the chronicity of the disorder in this form. Inclusions within schwann cells and endoneurial macrophages were similar in all four cases. Myelin figures, in which the periodicity of major dense lines was 8 nm, were present in schwann cells associated with myelinated axons. The electron lucent zones between the major dense lines were bisected by lines of lesser electron density. These inclusions were probably related to myelin breakdown. All other inclusions displayed a periodicity of 5.8 nm and consisted of zebra bodies, vacuoles containing irregularly orientated lamellar material and stacks of flattened discs. These inclusions represented the metachromatic sulphatide deposits. Occasional inclusion bodies were observed within axons.
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ranking = 78.157898289204
keywords = macrophage
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9/25. Pigmentary type of orthochromatic leukodystrophy with early onset and protracted course.

    The pigmentary type of orthochromatic leukodystrophy (OLD) is a rare disorder in adults; only one questionable childhood case has been observed. We report the sporadic case of a male aged 26 years with early onset and protracted course. He presented retarded motor development from birth with ataxic gait and, at age 13 years, developed progressive mental and neurologic deterioration with tetraparesis, ataxia and seizures and died in a disabled, mute state. Repeated CT scans showed progressive diffuse cerebral atrophy and low density of the hemispheric white matter. autopsy revealed OLD with pigmented macrophages and glial cells, ultrastructurally showing storage of lipofuscin and ceroid with multilamellar bodies or finger-print profiles. Abnormal cytoplasmic inclusions in reduced oligodendroglial cells suggest demyelination due to a primary defect of oligodendroglia in this rare disorder.
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keywords = macrophage
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10/25. Bone-marrow transplantation for metachromatic leucodystrophy.

    An 11-month-old boy with late infantile metachromatic leucodystrophy was given a bone-marrow transplant (BMT) from an HLA-identical sister; 6 months later his cerebrospinal fluid leucocytes were exclusively of donor origin. Coupled with the patient's continued developmental progress, as assessed 33 months after the procedure, the findings suggest that BMT may be an effective treatment for some congenital metabolic disorders which affect the central nervous system.
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