Anesthetic Approach for a Patient with 1q21.1 Microdeletion Syndrome: A Case Report
Journal Title: Journal of Academic Research in Medicine - Year 2020, Vol 10, Issue 3
Abstract
1q21.1 microdeletion syndrome is a chromosome abnormality where segment of genetic material on the long (q) arm of chromosome 1 at position 21.1 is missing or deleted. Distal 1q21.1 microdeletion is associated with microcephaly, macrocephaly, mental retardation, craniofacial dysmorphism, cardiac abnormalities, and cataracts, while proximal 1q21.1 microdeletion is associated with thrombocytopenia-absent radius syndrome and skeletal, cardiac, and genitourinary system abnormalities. Moreover, patients with 1q21.1 microdeletion syndrome have no unique facial features; however, 75% of the carriers have craniofacial dysmorphism. Short stature (50%), microcephaly (22%), cleft palate, cleft lip, long philtrum, frontal bossing, epicanthal folds, and bulbous nose can be seen among these patients. Although there is delay in motor development in 50%-75% of these patients, mental retardation is typically mild to moderate. Neurological symptoms such as tremor (44%), hyperreflexia (35%), and hypotonia (35%) have been reported in the literature. In addition, seizure occurs at a frequency of 10%-20% and starts at an early age. Psychiatric conditions such as autism spectrum, attention-deficit hyperactivity, and mood and anxiety disorders might also occasionally accompany 1q21.1 microdeletion syndrome. In this case report, we discuss our anesthetic experience with a 3-year-old boy diagnosed with this syndrome, for whom an orthopedic clinic planned a posterior spinal instrumentation. Further, this is the first case in the literature on anesthetic treatment of patient with 1q21.1 microdeletion syndrome.
Authors and Affiliations
Gül Cansever, Cansu Uzuntürk, Nur Canbolat
Keywords
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- EP ID EP691775
- DOI 10.4274/jarem.galenos.2020.3703
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