title: Adrenomyeloneuropathy with bulbar palsy: A rare association.
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.
authors.affiliation: Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India.
authors.forename: Vishal Annaji
authors.initials: VA
authors.lastname: Chafale
authors.affiliation: Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India.
authors.forename: Satish Arunkumar
authors.initials: SA
authors.lastname: Lahoti
authors.affiliation: Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India.
authors.forename: Atanu
authors.initials: A
authors.lastname: Biswas
authors.affiliation: Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India.
authors.forename: Arijit
authors.initials: A
authors.lastname: Roy
authors.affiliation: Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India.
authors.forename: Asit Kumar
authors.initials: AK
authors.lastname: Senapati
keywords: Adrenal insufficiency; adrenomyeloneuropathy; bulbar palsy