Ryalls, MR;
Gan, H-W;
Davison, JE;
(2020)
Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies.
Journal of Clinical Research in Pediatric Endocrinology
10.4274/jcrpe.galenos.2020.2020.0214.
(In press).
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Abstract
BACKGROUND: Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 35-40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Approximately 70-80% of boys with ALD have impaired adrenal function prior to the onset of neurologic symptoms. CASE REPORT: We present a boy who had recurrent episodes of hypoglycaemia from age 2 years and was diagnosed with adrenal insufficiency without adrenal antibodies at age 5.5 years. RESULTS: Following initial normal VLCFA levels, subsequent VLCFA analysis demonstrated elevated C26 fatty acids consistent with peroxisomal dysfunction and suggestive of ALD, which was confirmed via molecular genetic analysis of the ABCD1 gene. Brain imaging evidence of cerebral involvement emerged at age 7, and the child underwent successful allogeneic hematopoietic stem cell transplantation. At last assessment (11.5 years old), he was performing as expected for age. CONCLUSION: This case highlights the importance of pursuing a diagnosis when clinical suspicion remains, and the significance of VLCFA analysis for patients with adrenal insufficiency without adrenal antibodies in prompting an ALD diagnosis. Subsequent brain imaging surveillance can detect early, pre-symptomatic cerebral disease allowing for timely treatment and successful arrest of cerebral disease progression.
| Type: | Article |
|---|---|
| Title: | Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies |
| Location: | Turkey |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.4274/jcrpe.galenos.2020.2020.0214 |
| Publisher version: | http://doi.org/10.4274/jcrpe.galenos.2020.2020.021... |
| Language: | English |
| Additional information: | © Galenos Publishing House. This is an Open Access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
| Keywords: | adrenal insufficiency, adrenoleukodystrophy, very-long chain fatty acids, x-linked |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10107249 |
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