Department of Neurology, University Hospital Zurich, Frauenklinikstrasse 26, 8091, Zurich, Switzerland.
Orphanet J Rare Dis. 2024 Aug 25;19(1):312. doi: 10.1186/s13023-024-03309-4.
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.
我们对 McLeod 综合征（MLS）的表型进行了系统回顾，并报告了一例 73 岁女性遗传改变导致 MLS 的病例，其表现为典型的进行性核上性麻痹（PSP）表型。
为了便于临床推理并实现针对性诊断，我们对描述经证实的 McLeod 综合征症状性病例的论文进行了系统回顾。本综述遵循 PRISMA 2020 声明：针对系统综述报告的更新指南（Page 等人，Syst Rev 10(1):89, 2021）。
MLS 的平均发病年龄为 40.2 岁，出现舞蹈症（46%）、癫痫发作和精神改变（各 13%）。非常常见的是 Kell 抗原减弱（100%）、肌肉活检改变（100%）、XK 基因改变（100%）、肌酸激酶升高（97%）、棘形红细胞（96%）、MRI 改变（95%）、舞蹈症（84%）和反射减弱（82%）。
对 65 名男性和 11 名女性的回顾提供了 MLS 临床表型的简明概述，强化了我们的观点，即这位女性患者的 PSP 独立于 MLS 携带者状态。本报告强调了在医学决策中锚定的陷阱，特别是已知非常罕见疾病的遗传携带者状态可能导致的诊断偏差。
