Abstract
X-linked adrenoleukodystrophy is the most common peroxisomal disorder characterized by progressive demyelination of the central nervous system, and adrenal insufficiency. A thirteen-years-old male presented with hearing loss and night crying. He was talking loudly because of the deafness, and his skin was hyperpigmented. Adrenocorticotropic hormone (ACTH) level was increased and cortisol level was low in hormonal evaluation. Very long chain fatty acids were studied for suspected adrenoleukodystrophy, and elevated plasma C26 level led to the diagnosis. Molecular genetic analysis revealed hemizygous deletion of exons 6 to 9 in ABCD1 gene. Although poor school performance, attention deficit, behavioral changes, quadriplegia, cerebral ataxia, visual and hearing impairment, adrenal insufficiency are classical clinical findings of adrenoleukodystrophy, rarely severe deafness can be the initial symptom.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
