adrenomyeloneuropathy with bulbar palsy: a rare association
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ID: 181804
2014
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Abstract
Adrenomyeloneuropathy (AMN) is a variant of adrenoleukodystrophy (ALD), an X-linked recessive peroxisomal disorder associated with accumulation of very long chain fatty acids (VLCFA). Mutations of this gene lead to abnormal peroxisomal β-oxidation, which results in the harmful accumulation of VLCFAs in affected cells. Neurological symptoms occur due to progressive demyelination and destruction of cerebral white matter and primary adrenal insufficiency. Bulbar palsy in a case of AMN is very unusual. We report a case of a 22-year-old male with AMN who developed adrenal insufficiency at the age of 4 years successfully treated by gluco- and mineralocorticoids followed by features of myeloneuropathy with bulbar palsy. AMN with prominent bulbar symptoms emphasizes the diverse clinical manifestation of this disease.
| Reference Key |
chafale2014annalsadrenomyeloneuropathy
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|---|---|
| Authors | ;Vishal Annaji Chafale;Satish Arunkumar Lahoti;Atanu Biswas;Arijit Roy;Asit Kumar Senapati |
| Journal | Journal of global antimicrobial resistance |
| Year | 2014 |
| DOI |
10.4103/0972-2327.138530
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