Background: Spontaneous intracranial hypotension has historically been a poorly understood pathology that is often unrecognized and undertreated. Even more rarely has it been described in pediatric patients with an otherwise benign past medical history.
Observations: Herein the authors describe one of the youngest patients ever reported, a 2-year-old girl who developed severe headaches, nausea, and vomiting and experienced headache relief after lying down. Imaging revealed tonsillar herniation 14 mm below the foramen magnum, presumed to be a Chiari malformation, along with extensive dural cysts starting from thoracic level T2 down to the sacrum. She was found to have streaky skin pigmentary variation starting from the trunk down to her feet. Genetic analysis of skin biopsies revealed mosaicism for an isodicentric marker chromosome (10p15.3-10q11.2 tetrasomy) in 27%-50% of cells. After undergoing a suboccipital and cervical decompression at an outside institution, she continued to be symptomatic. She was referred to the authors' hospital, where she was diagnosed with spontaneous intracranial hypotension.
Lessons: After receiving a series of epidural blood patches, the patient experienced almost complete relief of her symptoms. To the authors' knowledge, this is the first time this chromosomal anomaly has ever been reported in a living child, and this may represent a new genetic association with dural ectasia.
Keywords: CSF = cerebrospinal fluid; EBP = epidural blood patch; MRI = magnetic resonance imaging; SIH = spontaneous intracranial hypotension; dural ectasia; epidural blood patch; genetic mosaicism; intracranial hypotension; tetrasomy 10p.
© 2021 The authors.