Angelman syndrome: a case series assessing neurological issues in adulthood.

BACKGROUND: This study aimed to evaluate the clinical symptoms of Angelman syndrome (AS) in adults and to identify the neurological pathways affected in this disease. AS is a neurogenetic disorder resulting due to the deletion or inactivation of the ubiquitin-protein-ligase E3A gene on maternal chromosome 15. SUMMARY: A retrospective analysis of data from six adults patients with clinical, electroencephalographic and genetic confirmation of AS was performed. Movement disorders of the hands and mouth, laughing spells, severe expressive speech disorders, a happy nature, hyposomnia and anxiety are the major neurological characteristics of AS in adulthood. Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood. Epilepsy, one of the most frequent symptoms in childhood and in adulthood, is characterised by specific electroencephalographic patterns. Key Messages: These clinical characteristics are important to improve the clinical awareness and genetic diagnosis of AS. Clinicians must be better informed concerning the adult phenotype as it is not well described in the literature. We stress the importance of AS as one of the main causes of intractable epilepsy. The authors suggest frontal and cerebellar dysfunction. Further functional cerebral imaging studies are necessary.

Low serum procalcitonin level accurately predicts the absence of bacteremia in adult patients with acute fever.

The ability of measurement of serum procalcitonin (PCT) levels to differentiate bacteremic from nonbacteremic infectious episodes in patients hospitalized for community-acquired infections was assessed. Serum samples were obtained from adult inpatients with fever to determine the serum PCT level, C-reactive protein (CRP) level, and erythrocyte sedimentation rate (ESR). Of 165 patients, 22 (13%) had bacteremic episodes and 143 (87%) had nonbacteremic episodes. PCT levels, CRP levels, and ESRs were significantly higher in bacteremic patients than in nonbacteremic patients (P<.001,.007, and.024, respectively). The best cutoff value for PCT was 0.4 ng/mL, which was associated with a negative predictive value of 98.8%. Area under the receiver operating characteristic curve was 0.83 for PCT, which was significantly higher than that for CRP (0.68; P<.0001) and ESR (0.65; P<.05). A serum PCT level of <0.4 ng/mL accurately rules out the diagnosis of bacteremia. The use of PCT assessment could help physicians limit the number of blood cultures to be processed and the number of antibiotic prescriptions.