Background: Spinal arachnoid cysts (SAC) are rare, especially in children. Patients can be asymptomatic or present symptoms of spinal cord compression. In this latter case, surgery is indicated to relieve the compression. Different surgical techniques have been described to treat these cysts, endoscopic or endoscopy-assisted fenestration being the least invasive. Tetrasomy 18p describes the condition in which two copies of the short arms of chromosome 18 are present. It is an extremely rare pathology with a variable phenotype, including 100% of cases cognitive impairment and developmental delay. Different central nervous system (CNS) abnormalities have been found in these patients.
Observations: The authors describe the case of a 3-year-old boy with a tetrasomy 18p and a wide spinal arachnoid cyst that received an endoscope-assisted treatment with a significantly improved motor outcome.
Lessons: Tetrasomy 18p is an extremely rare pathology and different CNS abnormalities have been described in association with, but to date spinal arachnoid cyst has never been reported. These children typically show global hypotonia and cognitive impairment. The authors recommend a thorough neurological assessment with cranio-spinal magnetic resonance imaging to rule out any possible malformation that could be improved by surgery.
Keywords: CNS = central nervous system; MRI = magnetic resonance imaging; SAC = spinal arachnoid cyst; children; endoscopy; intradural; spinal arachnoid cyst; tetrasomy 18p.
© 2022 The authors.