A & A case reports
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Case Reports
Peripartum Anesthetic Management and Genomic Analysis of Rare Variants in a Patient with Familial Pulmonary Fibrosis.
A 29-year-old patient, 32 weeks' pregnant, with a history of familial interstitial fibrosis, was treated for acute hypoxemia after admission to the intensive care unit. Within 48 hours, this was followed by an emergent cesarean delivery, under general anesthesia, due to acute respiratory failure. Successful perinatal obstetric and anesthetic management resulted in the delivery of a baby and recovery of the mother. Subsequent genomic analysis using next-generation sequencing of the patient's entire exome revealed that she was a carrier of a deleterious mutation in the TERT gene, previously associated with the hereditary forms of interstitial fibrosis.
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Case Reports
Avoiding Cardiovascular Collapse: Pediatric Cutaneous Mastocytosis and Anesthetic Challenges.
Mastocytosis includes a spectrum of diseases characterized by abnormal mast cell infiltration in various organs, which can lead to mast cell mediator release and immediate hypersensitivity. We review anesthetic challenges presented by a 6-year-old girl with a history of mast cell mediator release because of the urticaria pigmentosa variant of cutaneous mastocytosis, factor VII deficiency, increasing episodes of urinary tract infections, and pyelonephritis. She underwent spine magnetic resonance imaging, subsequent lumbar laminectomy for fatty filum release, and a cystourethroscopy. Perioperative management included factor VII desensitization, avoidance of triggers, minimizing histamine-releasing medications, mast cell stabilization, and preparation for potential immediate hypersensitivity.
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PHACE syndrome is a disorder that features posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. PHACE syndrome includes abnormalities in several organ systems that may influence anesthetic management. We discuss the anesthetic management of a 26-year-old woman with PHACE syndrome presenting for cesarean delivery. Management included careful airway examination, slowly dosed epidural anesthesia, close hemodynamic monitoring aided by a radial arterial line, and continuous intraoperative neurologic assessment.
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Neonatal progeroid syndrome is a unique condition wherein features of aging are apparent in a newborn at birth. It is a very rare genetic disorder. The first case in India was reported in December 2011. ⋯ Independently described by Rautenstrauch and Wiedemann, neonatal progeroid syndrome poses significant challenges to the anesthesiologist for a variety of anatomic and physiologic reasons. Coronary and cerebrovascular atherosclerosis pose significant concerns in such children. Here, we present the successful anesthetic management of a 6-month-old male infant with neonatal progeroid syndrome operated on for bilateral inguinoscrotal swellings.
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Anti-N-methyl-D-aspartate receptor encephalitis is caused by autoantibodies to N-methyl-D-aspartate receptors. This disorder is poorly understood and occurs very rarely in children. We describe a total IV anesthetic for a 4-year-old boy with anti-N-methyl-D-aspartate receptor encephalitis and review the potential drug interactions with this autoimmune disease.