ABSTRACT
Gorham-Stout disease is a rare condition of uncertain aetiology characterised by lymphatic proliferation within osseous structures and subsequent massive osteolysis. This report describes the index case of a patient with multifocal Gorham-Stout disease involving the skull base with Chiari I malformation and recurrent aseptic meningitis without fistula. A five-year-old male presented following decompression of a Chiari I malformation with headaches, vomiting, and stiff neck and cerebrospinal fluid pleocytosis without growth of a pathogenic organism. Ongoing symptoms prompted a further three presentations over several months revealing persistent aseptic cerebrospinal fluid monocytic pleocytosis. Further investigation revealed multifocal osseous cystic disease and subsequent bone biopsy suggested Gorham-Stout disease. Suboccipital decompression was not repeated despite craniocervical junction re-stenosis. A literature review demonstrated the extreme rarity of Gorham-Stout disease associated with Chiari I malformation and meningitis. Potential mechanisms of these entities occurring in concert are discussed. Consideration of Gorham-Stout disease as a secondary cause for Chiari I malformation is important amid local bone changes or cerebrospinal fluid leakage prior to pursuing suboccipital decompression considering the poor outcomes reported.
Subject(s)
Arnold-Chiari Malformation/etiology , Arnold-Chiari Malformation/pathology , Meningitis, Aseptic/etiology , Meningitis, Aseptic/pathology , Osteolysis, Essential/complications , Osteolysis, Essential/pathology , Bone Diseases/pathology , Central Nervous System Infections/surgery , Cerebrospinal Fluid Leak/etiology , Child, Preschool , Headache/surgery , Humans , Male , Neurosurgical Procedures/adverse effects , Skull Base/pathologySubject(s)
Anaplastic Lymphoma Kinase/genetics , Gene Rearrangement , Neoplasms, Muscle Tissue/genetics , Placenta Diseases/genetics , Pregnancy Complications, Neoplastic/genetics , Adult , Female , Humans , Neoplasms, Muscle Tissue/pathology , Placenta Diseases/pathology , Pregnancy , Pregnancy Complications, Neoplastic/pathologyABSTRACT
When nurses are hired for positions that require lengthy, highly specialized in-house orientation, their failure to complete orientation on time can lead to staffing shortages. In this article, we report the use of a transparent tracking system to monitor nurses' progress through a competency-based orientation program. By monitoring progress and detecting lapses, immediate remediation can be offered to those who need it, and staffing shortages thereby are avoided.
Subject(s)
Clinical Competence/standards , Hospitals, Pediatric , Inservice Training/methods , Inservice Training/standards , Nursing Staff, Hospital/education , Child , Humans , Personnel Selection , PreceptorshipABSTRACT
Ventricular noncompaction cardiomyopathy is a rare form of congenital cardiomyopathy with increasing evidence of genetic etiology, especially when presenting in childhood. Fetal presentation is rare. We describe a case of fetal hydrops, presenting at 24 weeks gestation and leading to intrapartum death at 26 weeks gestation. Autopsy examination revealed characteristic features of left ventricular noncompaction. A genetic analysis identified a constellation of variants of unknown significance in MYH6, TNNC1, and MYBPC3, genes known to be important in sarcomeric function. Additionally, the variant in MYBPC3 was homozygous. While this case did not demonstrate a conventional single-gene mutation as the cause of the ventricular noncompaction, a broader genomic investigation revealed several variants in sarcomeric genes which may act synergistically to impact cardiac function.
