Patients with rheumatic and musculoskeletal diseases (RMDs) on immunosuppressants are considered a vulnerable group in COVID‐19 pandemic and vaccination is the mainstay for the prevention of this infection (1). To date, recommendations and data for COVID‐19 vaccination in adolescent patients with RMDs are lacking (2). International societies and post‐authorization safety reports of the novel mRNA COVID‐19 vaccines are generally reassuring; nonetheless their safely profile in adolescents with RMDs on immune‐modulating treatment is unknown, since these individuals were excluded from the vaccine trials (3‐5).
Brain abscess is a rare complication of staphylococcal bacteremia in infants. Here we present a case of a premature infant who developed multiple brain abscesses 12 weeks following an episode of inadequately treated Staphylococcus aureus sepsis. The abscess developed in the absence of trauma, prior surgery, cyanotic heart disease, or immune defect. The initial staphylococcal isolate exhibited identical pulsed-field gel electrophoresis pattern with that of the isolate cultured from abscess aspirate. The infant was successfully treated by surgical drainage and administration of antibiotics for 12 weeks, initially teicoplanin and meropenem followed by trimethoprim/sulfamethoxazole, without neurological or developmental sequelae. Staphylococcal bacteremia in neonates should be vigorously treated to prevent life-threatening complications.
BackgroundPelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, ataxia, progressive spasticity, and cognitive decline. PMD classically results from a duplication of a genomic segment encompassing the entire PLP1 gene. Since the PLP1 gene is located in Xq22, PMD affects mostly boys.Methods and resultsHere we report the case of a girl with typical PMD. Copy number analysis of the PLP1 locus revealed a duplication of the entire gene and FISH analysis showed that the extra copy of the PLP1 gene was actually inserted in chromosome 1p36. This insertion of an additional copy of PLP1 in an autosome led to a functional duplication irrespective of the X-inactivation pattern. Subsequent overexpression of PLP1 was the cause of the PMD phenotype observed in this girl. Further sequencing of the breakpoint junction revealed a microhomology and thus suggested a replication based mechanism (such as FoSTeS or MMBIR).ConclusionThis case emphasizes the susceptibility of the PLP1 locus to complex rearrangement likely driven by the Xq22 local genomic architecture. In addition, careful consideration should be given to girls with classical PMD clinical features since they usually experience complex PLP1 genomic alteration with a distinct risk of inheritance.
Pelizaeus-Merzbacher disease is a rare X-linked recessive disorder regarding the defective myelin sheath formation in the CNS neurons due to mutations of the proteolipid protein 1 gene (PLP1). Even though it is predominant in males, affected females have been found to represent a small proportion in the medical literature 1. A wide variety of PLP1 mutations have been reported as a cause. Herein, we describe the case of a 9-month-old female with (bearing) the typical features of the disease who was found to have a rare mutation.
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