Background And Objectives: Pallister-Killian Syndrome (PKS) is a rare genetic disease due to a mosaic anomaly of chromosome 12. There is little information about PKS in the anesthetic literature. This report aimed at discussing aspects of this syndrome that may be relevant to anesthesia.
Case Report: A 5-year-old male patient with typical PKS characteristics (facial dimorphism, temporal alopecia, micrognathia, macroglossia, mental retardation, seizures and pigmentary skin lesions) was scheduled to magnetic resonance of the head under general anesthesia. He was induced and maintained with sevoflurane under facial mask and oropharyngeal canulla. Pulmonary ventilation was manually assisted during induction. There has been no complication and the procedure was performed in outpatient regimen.
Conclusions: The importance of a thorough preanesthetic evaluation is emphasized due to possible malformations associated to PKS, including cardiopathies. Attention to difficult intubation or maintenance of the airways is recommended.
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http://dx.doi.org/10.1590/s0034-70942004000500009 | DOI Listing |
Ophthalmol Retina
November 2024
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Neoreviews
November 2024
Fetal and Pregnancy Health Program, Lucile Packard Children's Hospital, Stanford Medicine Children's Health, Palo Alto, CA.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Cell Rep
June 2024
Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, 3800 Spruce Street, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA; Institute for Regenerative Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:
Childs Nerv Syst
August 2024
Pediatric Neurosurgery Unit, Department of Pediatric Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Pallister-Killian syndrome (PKS; OMIM #601803) is a rare genetic disorder typically characterized by developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Here, we report a 27-month-old girl with a prenatal diagnosis of PKS and a histopathological diagnosis of pineocytoma.
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