| Autor: |
Ryalls MR; Royal Surrey County Hospital NHS Foundation Trust, Department of Paediatric, Guildford, UK, Gan HW; Great Ormond Street Hospital for Children NHS Foundation Trust, Paediatric Endocrinology and Diabetes; University College of London Institute of Child Health, London, UK, Davison JE; Great Ormond Street Hospital for Children NHS Foundation Trust, Metabolic Medicine, London, UK |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2021 Jun 02; Vol. 13 (2), pp. 212-217. Date of Electronic Publication: 2020 May 12. |
| DOI: |
10.4274/jcrpe.galenos.2020.2020.0214 |
| Abstrakt: |
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. We present a boy who had recurrent episodes of hypoglycaemia from age two years and was diagnosed with adrenal insufficiency without adrenal antibodies at age 5.5 years. 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 at age 7 suggested cerebral involvement and the child underwent successful allogeneic hematopoietic stem cell transplantation. At last assessment (11.5 years old), he was performing as expected for age. 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 securing 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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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