A distinct clinical phenotype in two siblings with X-linked adrenoleukodystrophy

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dc.contributor.authorKutbay N.O.
dc.contributor.authorOzbek M.N.
dc.contributor.authorYurekli B.S.
dc.contributor.authorDemirbilek H.
dc.date.accessioned2024-07-22T08:09:16Z
dc.date.available2024-07-22T08:09:16Z
dc.date.issued2019
dc.description.abstractOBJECTIVES: X-linked adrenoleukodystrophy(X-ALD) is a rare X-linked recessive metabolic disorder. The mutations in the ATP Binding Cassette Subfamily D Member 1 (ABCD1) gene account for the underlying molecular mechanism. Herein, we present two siblings with X-ALD due to a missense, presumably identical, ABCD1 mutation, who had extremely distinct clinical phenotypes. MATERIAL AND METHODS: Patient 1 (6y/o) was admitted with primary adrenal insufficiency (PAI). His VLCFA analysis and cranial MRI suggested the diagnosis of X-ALD with no cranial involvement. Although the PAI was successfully managed using hydrocortisone replacement therapy, during follow-up he was admitted with the complaints of perception impairment, seizures, loss of vision and deafness suggesting cranial involvement which was not able to be recovered despite intensive supportive therapies; in the end patient died. Patient 2 (21y/o) had mild symptoms of PAI with no organ manifestation. He was undertaken to a molecular genetics analysis for ABCD1 gene due to history of his brother. His VLCFA analysis revealed mildly elevated C26, C22 and C26/C22 ratio suggesting ALD diagnosis. However, his cranial imaging and other results were within normal limits. 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. ©2019 Neuroendocrinology Letters.
dc.identifier.issn0172780X
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/14758
dc.language.isoEnglish
dc.publisherMaghira and Maas Publications
dc.subjectAdrenoleukodystrophy
dc.subjectATP Binding Cassette Transporter, Subfamily D, Member 1
dc.subjectBrain
dc.subjectChild
dc.subjectFatal Outcome
dc.subjectHumans
dc.subjectMagnetic Resonance Imaging
dc.subjectMale
dc.subjectMutation, Missense
dc.subjectPhenotype
dc.subjectSiblings
dc.subjectYoung Adult
dc.subjectcorticotropin
dc.subjecthydrocortisone
dc.subjectvery long chain fatty acid
dc.subjectadrenal insufficiency
dc.subjectadrenoleukodystrophy
dc.subjectadult
dc.subjectArticle
dc.subjectbody height
dc.subjectbody weight
dc.subjectcase report
dc.subjectchild
dc.subjectclinical article
dc.subjectcontrast enhancement
dc.subjectdeath
dc.subjectdemyelination
dc.subjectdeterioration
dc.subjecthearing impairment
dc.subjecthormone substitution
dc.subjecthospital admission
dc.subjecthuman
dc.subjecthyperpigmentation
dc.subjectmale
dc.subjectmissense mutation
dc.subjectmutational analysis
dc.subjectnuclear magnetic resonance imaging
dc.subjectnuclear magnetic resonance spectroscopy
dc.subjectphenotype
dc.subjectpreschool child
dc.subjectSanger sequencing
dc.subjectseizure
dc.subjectshort stature
dc.subjectvisual impairment
dc.subjectX chromosome linked disorder
dc.subjectyoung adult
dc.subjectadrenoleukodystrophy
dc.subjectbrain
dc.subjectdiagnostic imaging
dc.subjectfatality
dc.subjectgenetics
dc.subjectmissense mutation
dc.subjectphenotype
dc.subjectsibling
dc.titleA distinct clinical phenotype in two siblings with X-linked adrenoleukodystrophy
dc.typeArticle

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