Category: Rare Genetic and Metabolic Diseases
Objective: Analyze, review and describe the pathognomonic or characteristic signs and symptoms of Mcleod syndrome.
Background: Mcleod syndrome is caused due to a mutation of recessive inheritance linked to the X chromosome of the XK gene, responsible for the production of a specific protein (Kell antigen) from the surface of the red blood cells, brain and muscle. The prevalence and incidence reported is 0.5 cases per one million inhabitants, with approximately 150 cases reported worldwide, with male predominance.
Method: Systematic review study with meta analysis of the clinical case reports of McLeod syndrome to meet the proposed objective, the search was conducted in the PubMed database, with the search strategy: “McLeod syndrome” AND “case report “OR” clinical case “that include patient description. Data was captured in the Excel program that contained the signs, symptoms and complications; The data obtained were analyzed using the Stata 14 program, the descriptive statistics and the measure of effect size in the prediction of signs and symptoms associated with mortality were obtained.
Results: A database was generated with 41 articles including 64 individual cases with an average age of 46 years and a proportion of men of 98.43%. According to the proportional comparison tests, the choreic movements did not have a predominance by sex, however, a significant difference was found with respect to the presentation in adulthood compared to the pediatric, predominantly in adults. On the contrary, muscular atrophy and gait disorders had no difference with respect to the age of presentation. The signs muscular atrophy, paraesthesia, hyporeflexia and decreased kell antigen were associated with mortality, explaining between 0.4 and 0.5 magnitude of the effect when using the Cohen D statistic.
Conclusion: This entity represents a challenge for early diagnosis, since the signs and previously described symptoms do not always occur in all patients as is the case with acanthocytosis and choreic movements. The integration of a diagnostic protocol that allows unifying the diagnostic approaches is recommended whenever the syndrome is suspected.
To cite this abstract in AMA style:A. Rochel Pérez, O. Cuevas Koh, K. Santos Zaldivar, R. Leal Ortega, R. Janssen-Aguilar, N. Mendez Dominguez. Mcleod syndrome: Systematic review with meta-analysis [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/mcleod-syndrome-systematic-review-with-meta-analysis/. Accessed December 5, 2023.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/mcleod-syndrome-systematic-review-with-meta-analysis/