Anesthetic Approach for a Patient with 1q21.1 Microdeletion Syndrome: A Case Report

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.