Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child
نویسندگان
چکیده
منابع مشابه
X-Linked Adrenoleukodystrophy: Diagnostic and Therapeutic Approach
Adrenoleukodystrophy (ALD) is an X-linked inherited disorder that affects the central nervous system, peripheral nerves, adrenal cortex and testes. Also known as Schilder’s disease and sudanophillic leukodystrophy, ALD is a peroxisomal metabolic storage disease caused by mutations in the ABCD1 gene, involved in the degradation of very long-chain fatty acids (VLCFA). The consequent accumulation ...
متن کاملGuillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy
X-Linked adrenoleukodystrophy is the most common peroxisomal disorder with different phenotypes among patients carrying the same ABCD1 mutation. There were previously reported associations of X-linked adrenoleukodystrophy with autoimmune disorders. The authors describe Guillain Barré syndrome in a child with X-linked adrenoleukodystrophy. The available evidence does not permit conclusion concer...
متن کاملClinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo’s Oil
X-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the peroxisomal metabolism biochemically characterized by the accumulation of very long chain fatty acids (VLCFA) in tissues and biological fluids. The major accumulated acids are hexacosanoic acid (C26:0) and tetracosanoic acid (C24:0). The disorder is characterized clinically by central and peripheral demyelination and adrenal ...
متن کاملX-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
X-linked adrenoleukodystrophy (X-ALD) is a clinically heterogeneous disorder ranging from the severe childhood cerebral form to asymptomatic persons. The overall incidence is 1:16,800 including hemizygotes as well as heterozygotes. The principal molecular defect is due to inborn mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membran...
متن کاملA rare X-linked inherited mucocutaneous syndrome in two siblings.
We report on an 11 year-old boy with dyskeratosis congenita who presented with dystrophic nails, dysphagia, hyperpigmentation and oral leukoplakia. He had a brother who died 14 years earlier with similar presenting symptoms and aplastic anaemia. Genetic studies of our patient demonstrated the presence of a DKC1 mutation and confirmed our diagnosis. Further genetic screening revealed that his mo...
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ژورنال
عنوان ژورنال: Srpski arhiv za celokupno lekarstvo
سال: 2017
ISSN: 0370-8179,2406-0895
DOI: 10.2298/sarh160331050s