Systematic review of phenotypes in McLeod syndrome and case report of a progressive supranuclear palsy in a female carrier.
McLeod syndrome
Neuroacanthocytosis
Phenotype
Progressive supranuclear palsy
Systematic review
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
25 Aug 2024
25 Aug 2024
Historique:
received:
10
11
2023
accepted:
06
08
2024
medline:
26
8
2024
pubmed:
26
8
2024
entrez:
25
8
2024
Statut:
epublish
Résumé
We present a systematic review of phenotypes of McLeod syndrome (MLS) and a case of a 73-year-old female carrier of the genetic alteration leading to MLS with the typical progressive supranuclear palsy (PSP) phenotype. To facilitate clinical reasoning and enable targeted diagnosis, we conducted a systematic review of the papers describing symptomatic cases of confirmed McLeod syndrome. This review follows the PRISMA 2020 statement: an updated guideline for reporting systematic reviews (Page et al in Syst Rev 10(1):89, 2021). The average onset of MLS was at 40.2 years of age with chorea (46%), seizures and psychiatric changes (each 13%). Very common are weakened Kell antigen (100%), changes in muscle biopsy (100%), genetic alterations in XK (100%), elevated creatine kinase (97%), acanthocytes (96%), MRI changes (95%), chorea (84%) and hyporeflexia (82%). This review of 65 males and 11 females gives a concise overview of clinical phenotypes in MLS, reinforcing our view that this female patient had PSP independent of MLS carrier status. This report highlights the pitfalls of anchoring in medical decision-making, particularly the possible diagnostic bias of a known genetic carrier status of a very rare disease.
Identifiants
pubmed: 39183347
doi: 10.1186/s13023-024-03309-4
pii: 10.1186/s13023-024-03309-4
doi:
Types de publication
Systematic Review
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
312Informations de copyright
© 2024. The Author(s).
Références
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