ABSTRACT
Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been described as neuroacanthocytosis. This is a heterogeneous group of conditions that can be clearly subdivided on the basis of recent genetic findings. The McLeod Syndrome, one of the core neuroacanthocytosis syndromes, is a rare X-linked disorder caused by mutations of the XK gene, an X-chromosomal gene of unknown function characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. We report two Chilean brothers with the McLeod phenotype who showed important psychiatric features. The diagnosis may be elusive if the presence of acanthocytosis is not properly studied. We describe a method which allowed the diagnosis that unmasked acanthocytosis. Otherwise the condition could have remained undiagnosed as it had been for decades in this family. This syndrome must be considered when assessing a familial movement disorder, specially affecting males with relevant psychiatric features. A reliable test for acanthocytosis assessment is available.
Subject(s)
Humans , Male , Middle Aged , Amino Acid Transport Systems, Neutral/genetics , Antigens, Surface/genetics , Blood Proteins/genetics , Genetic Diseases, X-Linked/genetics , Mutation/genetics , Neuroacanthocytosis/genetics , Genetic Diseases, X-Linked/diagnosis , Neuroacanthocytosis/diagnosis , Pedigree , SyndromeABSTRACT
Background: Acinetobacter baumannii nosocomial outbreaks are common and the microorganism is frequently resistant to multiple antimicrobials. There is little information about Acinetobacter baumannii antimicrobial susceptibility in the northern region of Chile. Aim: To identify different Acinetobacter baumannii biotypes isolated from clinical samples and to determine their antimicrobial susceptibility. Material and methods: One hundred twenty three Acinetobacter baumannii isolates were studied. The identification and typing of Acinetobacter baumannii was based on phenotypic characteristics. Antimicrobial susceptibility was investigated using agar dilution techniques. Results: Most Acinetohacter baumannii strains were isolated from wounds, urinary and respiratory infections. Seven biotypes were isolated, being biotype 9 the most frequent. lmipenem was the antimicrobial with the higher activity against the microorganism. Amikacin, cefoperazonesulbactam, ampicillinsulbactam and ceftazidime had a moderate activity. There were high resistance levels to ampicillin and older cephalosporins. Conclusions: Acinetobacter baumannii is emerging as a significant nosocomial pathogen in Chile and shows high resistance rates to multiple antibiotics