Paeds Cases · neurology-neurodisability-and-neuromuscular
Explain the scan and the transplant decision to the parents of a boy with cerebral adrenoleukodystrophy — OSCE
OSCE communication and shared decision-making station: explaining to frightened parents that their son's school decline and a contrast-enhancing brain lesion is cerebral X-linked adrenoleukodystrophy, an inherited inflammatory white-matter disorder in which a bone-marrow transplant can halt the disease if performed early, conveying urgency while managing fear, and outlining the diagnostic confirmation, the adrenal assessment, and the support available.
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You are the paediatric registrar caring for this boy. The task is to explain, in plain language, that the son's decline is caused by an inherited inflammatory condition of the brain's white matter called cerebral adrenoleukodystrophy - not cancer - in which the immune system attacks the brain's wiring, and that a bone-marrow transplant can halt the attack when it is performed early. You must address the parents' fear that the dye means cancer, explain why the school problem became a transplant decision so quickly, and convey honest urgency without abandoning hope. Agree a clear next-step plan with a named coordinator. [1] [2]
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- [1]Parikh S, Bernard G, Leventer RJ, et al. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephalopathies. Mol Genet Metab, 2015.PMID 25655951
- [2]Engelen M, van Ballegoij WJC, Mallack EJ, et al. International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach. Neurology, 2022.PMID 36175155
- [3]Mallack EJ, Turk BR, Yan H, et al. MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines. J Inherit Metab Dis, 2021.PMID 33373467