Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.
نویسندگان
چکیده
Adrenomyeloneuropathy is a varient of adrenoleukodystrophy, both of which are rare inherited disorders of peroxisomes characterized by the accumulation of very-long-chain fatty acids in plasma, the central and peripheral nervous systems, adrenal glands and testes, which leads to dysfunction of these organs and systems. In this article, we describe an illustrative case of adrenomyeloneuropathy and discuss the clinical presentation, diagnosis and management of the 2 disorders.
منابع مشابه
Adrenomyeloneuropathy Presenting With Adrenal Insufficiency
Adrenomyeloneuropathy (AMN), one of the variants of X-linked adrenoleukodystrophy (ALD), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). AMN is characterized primarily by involvements of long ascending and descending tracts of the spinal cord and peripheral neuropathy, which leads to spastic paraparesis and urinary and erectile dysfunct...
متن کاملAdrenomyeloneuropathy: report of a new mutation in a French Canadian female.
BACKGROUND X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis. CASE REPORT We report a novel m...
متن کاملAn unusual presentation of X-linked adrenoleukodystrophy
UNLABELLED X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene that result in accumulation of very long chain fatty acids (VLCFAs) in various tissues. This leads to demyelination in the CNS and impaired steroidogenesis in the adrenal cortex and testes. A 57-year-old gentleman was referred for the assessment of bilateral gynaecomastia of 6 mont...
متن کاملO-43: Mutations in NR5A1 Associated withOvarian Insufficiency
Background: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies...
متن کاملگزارش یک مورد سل فوق کلیه در بچه 3 ساله با شکایت توده شکمی Adrenal Tuberculosis in a 3-year-old Boy Presenting as an Abdominal Mass: A Case Report
Mycobacterium tuberculosis kills about 3 million patients each year and, so, is the single most important infectious cause of death on earth. Tuberculosis is the most common cause of primary adrenal insufficiency especially in under-developed countries. In primary stage, diffused enlargement of adrenal gland is noted and in later stages, the gland shrinks. This presented case is a 3.5-year-...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
دوره 171 9 شماره
صفحات -
تاریخ انتشار 2004