A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy.

CONCLUSION: Two siblings with X-ALD due to presumably an identical, missense ABCD1 mutation and distinct clinical phenotype have confirmed the lack of phenotype-genotype correlation and proved the essential role of molecular genetics analysis in the early diagnosis. It is crucial to follow up for the development of cranial involvement and decide a bone marrow transplantation which is the only option that can prevent the progression of the disease, thus extend the lifespan. PMID: 31184821 [PubMed - as supplied by publisher]
Source: Neuroendocrinology Letters - Category: Endocrinology Tags: Neuro Endocrinol Lett Source Type: research