Cases reported "Adrenoleukodystrophy"

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1/34. X-linked adrenoleukodystrophy: spinocerebellar variant.

    The phenotypic variability in X-linked adrenoleukodystrophy (X-ALD) can be wide and varied. Rarely, it can present with clinical signs of spinocerebellar degeneration. There are very few reported cases of selective predominant white matter disease of the cerebellum in these patients. We report a patient with a rare variant of adult onset ALD who was previously diagnosed as spinocerebellar ataxia. He was a 24-year-old male who had delayed developmental milestones, developed signs of spinocerebellar degeneration (SCD) after 10 years of Addison's disease. Serial magnetic resonance imaging (MRI), revealed cerebellar and pontine white matter disease but sparing the cerebral cortex and supratentorial white matter. His diagnosis of X-ALD was subsequently confirmed by the elevated serum very long chain fatty acids. This patient illustrates the unusual clinical presentation and imaging features of X-ALD and the importance of considering X-ALD in the clinical context of spinocerebellar degeneration. Early recognition of this rare variant would allow proper genetic counselling and institution of dietary therapy and/or bone marrow transplantation.
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2/34. A child with reading impairment and a family history of adrenoleukodystrophy.

    The clinical course of a 6-year-old boy with adrenoleukodystrophy (ALD) who underwent allogeneic stem-cell transplantation during an early clinical stage is described. Twenty-three months after transplant, he remains neurologically stable, but with moderate neurological sequelae; the serum very long chain fatty acid profile has improved, but not normalized. The indications, mechanism of action, and complications of bone marrow transplantation in ALD are discussed briefly, along with other potential therapies.
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3/34. bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy.

    The effects of bone marrow transplantation (BMT) in X-linked childhood adrenoleukodystrophy (ALD) are described in four Japanese patients. Two older patients, 10-year-old boys with IQ 60 and difficulty in school, had favourable results. IQ levels and MRI findings were generally maintained after BMT. One patient showed improvement of gait disturbance. They have both attended ordinary schools after BMT, although a learning disorder persists. On the other hand, two other younger patients with a rapid course and indeterminate IQ at BMT showed deterioration of neurological functions. Indication for BMT seems to be a maintained IQ level, preferably higher than 80, since it seems to be difficult to normalize IQ level after BMT. Younger patients have higher risk of developing a rapidly progressive form of the disease. Identification of presymptomatic boys, and serial and careful follow-up by neuropsychological and neuroradiological studies, are essential prerequisites to successful BMT in X-ALD.
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4/34. Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.

    We identified two novel missense mutations in exon 1 of adrenoleukodystrophy (ALD) gene in two unrelated Japanese families. The first, G(874)C transition results in Arg(163)Pro substitution in the cytoplasmic domain of the ALD protein in adrenomyeloneuropathy family. The second, C(679)G results in Ser(98)Trp substitution in the first transmembrane loop in childhood onset cerebral ALD family. Both mutations cause the substitution of polar amino acid (arginine and serine) with non-polar amino acid (proline and tryptophan). bone marrow transplantation (BMT) from his non-affected his younger sister was performed on a boy with childhood onset cerebral ALD who showed neurological deficit and brain MRI abnormalities. We evaluated the effect of BMT over a 6-year period in terms of neurological deficit, the level of very-long-chain fatty acids (VLCFA) in plasma and fibroblasts, and brain MRI. After BMT, patient's peripheral white blood cells were replaced by donor's XX ones carrying a normal ALD gene confirmed by in situ hybridization using satellite dna of the centromere of X and Y chromosomes as probes and the level of VLCFA in lymphocytes was within normal limit. However, his neurological state progressively deteriorated. BMT was not beneficial to him.
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5/34. Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.

    An 8.5-year-old girl with a pathogenic mutation (515insC) of the ATP-binding cassette, subfamily D, member 1 gene (ABCD1) on her maternally derived x chromosome showed clinical, biochemical, and magnetic resonance imaging abnormalities similar to those in affected males. Cytogenetic studies led to the surprise finding of a de novo deletion of Xq27 on the paternally derived x chromosome. A bone marrow transplant had an apparently favorable effect. Cytogenetic studies should be performed in all severely symptomatic X-linked adrenoleukodystrophy heterozygotes.
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6/34. Unrelated allogeneic bone marrow transplant in adrenoleukodystrophy using CD34 stem cell selection.

    adrenoleukodystrophy is an inherited disease characterized by progressive neurodegeneration with rapid deterioration to a vegetative state. Of the treatment modalities tried to date, BMT is the only one with the potential for cure. However, the high rate of morbidity and mortality associated with allogeneic transplant makes it necessary to try out novel measures to improve the outcome in these patients. We report here a case where we used CD34 stem cell selection for allogeneic unrelated-donor BMT in a patient with adrenoleukodystrophy.
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7/34. Improvement of central motor conduction after bone marrow transplantation in adrenoleukodystrophy.

    The case is described of a 20-year-old man with adrenoleukodystrophy who showed right spastic hemiparesis and gait disturbance. brain magnetic resonance imaging disclosed predominant involvement of the left corticospinal pathway. The clinical symptoms improved after bone marrow transplantation. transcranial magnetic stimulation disclosed significant improvement in various parameters of central motor conduction.
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8/34. adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: the importance of early testing.

    Childhood cerebral X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease typically presenting from age 4 to 8 years in males. We report 2 cases of X-ALD in boys. The diagnosis of Addison's disease was made before the development of neurological symptoms in both cases. The first patient had hyperpigmentation of the lips and an adrenocorticotropic hormone (ACTH) level higher than 1250 pg/mL when he was 7 years 3 months old. The initial diagnosis was Addison's disease, but X-ALD was diagnosed at age 8 years 8 months, when his motor and mental function deteriorated. The second boy had hypoglycemia, skin pigmentation, and an ACTH level of 1086 pg/mL when he was 4 years 6 months old, but the diagnosis was changed from Addison's disease to X-ALD owing to deterioration in speech at age 7 years. Since both bone marrow transplantation and Lorenzo's oil are beneficial only at the early stage of disease and idiopathic Addison's disease is very rare in children, it is important to test for very-long-chain fatty acids in boys suspected of having Addison's disease.
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9/34. Reversible posterior leukoencephalopathy syndrome in a child with cerebral X-linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation.

    Reversible posterior leukoencephalopathy syndrome (RPLS) was described by Hinchey and colleagues in 1996. The disorder occurs predominantly in patients with acute hypertension and/or on pharmacological immunosuppression. We report a 6-year-old male with cerebral X-linked adrenoleukodystrophy who received an HLA-matched unrelated bone marrow transplant (BMT). cyclosporine was used as graft-versus-host disease prophylaxis. At 55 days post-BMT, his cyclosporine concentrations were high for several days and the concentration was still high on day 70 (353 microg/L). He presented 83 days post-BMT with new onset of headache, lethargy, acute visual loss and focal seizures. He was not hypertensive. MRI of the head revealed signal changes that now extended more peripherally into the subcortical and cortical regions of the occipital and temporal lobes. The patient's cyclosporine was stopped for 5 days. The patient's vision returned to normal and his headaches and lethargy resolved with no further seizures 3 weeks later. Follow-up MRI of the head 2 months later showed almost complete resolution of the cortical signal abnormalities. It is important to consider RPLS in patients with cerebral adrenoleukodystrophy who present with acute neurological deterioration. attention to the pattern of white matter and the presence of cortical grey matter involvement on neuroimaging is important for the diagnosis. When appropriate management is initiated, that is controlling hypertension when present and discontinuing or reducing the dose of offending immunosuppressive agents, the acute neurological symptoms will usually resolve.
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10/34. Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination.

    Changes in fatty acid composition of complex lipids were analyzed in postmortem white matter from a patient with late onset adrenoleukodystrophy (ALD). The specimen showed three regions with progressive myelin breakdown: morphologically normal white matter; areas with active demyelination and perivascular lymphocyte and macrophage infiltration; and areas with marked gliosis. In the morphologically intact region, cholesterol esters were similar in amount and fatty acid composition to those in control tissue, although marked changes were observed in the actively demyelinating area. galactolipids in these areas were also similar to those in controls. In contrast, glycerophospholipids were increased in amount and in very long chain fatty acids (VLCFA), which are the hallmark of ALD, at the active edge of the demyelinative lesion and even in the apparently intact sample. Further fractionation of the glycerophospholipids by high performance liquid chromatography showed a significant (up to 39-fold) accumulation of hexacosanoic acid (C26:0) in phosphatidylcholine, but not in other phosphatidyl derivatives. The consistent increases in phosphatidylcholine VLCFA in all samples from the ALD brain, which are postulated to represent progressive stages in the development of the disorder, suggest that phosphatidylcholine may be involved in antigen formation and may underlie an immunological basis for the pathogenesis of ALD.
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