title: Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome. Case report.
abstract: The authors describe the case of a 12-year-old girl with Marfan syndrome, sacral dural ectasia, and tonsillar herniation, who presented with headache. Initially, it was hypothesized that the headaches were secondary to the tonsillar herniation, and the patient consequently underwent surgical decompression of the foramen magnum. Postoperatively, the patient's condition did not improve, and additional magnetic resonance (MR) imaging demonstrated evidence of a cerebrospinal fluid (CSF) leak at the level of the dural ectasia. It was surmised that the girl's symptoms were due to spontaneous intracranial hypotension (SIH) and that the tonsillar herniation was caused by the leakage. The patient responded well to application of a blood patch at the level of the demonstrated leak, and her headache resolved. This appears to be the first reported case of a patient with Marfan syndrome presenting with a symptomatic spontaneous CSF leak complicated by tonsillar herniation. In this rare association of SIH and connective tissue disorders, recognition of the clinical signs and typical MR imaging features of SIH may lead to more appropriate and less invasive treatment, potentially avoiding surgery.
authors.affiliation: Department of Pediatric Neurosurgery, Hôpital Necker-Enfants Malades, Paris, France. stephanie.puget@nck.aphp.fr
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Puget
authors.forename: Charles
authors.initials: C
authors.lastname: Kondageski
authors.forename: Alison
authors.initials: A
authors.lastname: Wray
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.forename: Thomas
authors.initials: T
authors.lastname: Roujeau
authors.forename: Federico
authors.initials: F
authors.lastname: Di Rocco
authors.forename: Michel
authors.initials: M
authors.lastname: Zerah
authors.forename: Christian
authors.initials: C
authors.lastname: Sainte-Rose
mesh_terms: D001139:Arnold-Chiari Malformation / Q000175:diagnosis* / Q000601:surgery; D017217:Blood Patch, Epidural; D002648:Child; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000175:diagnosis* / Q000209:etiology / Q000601:surgery; D005260:Female; D006261:Headache / Q000209:etiology*; D006801:Humans; D019585:Intracranial Hypotension / Q000175:diagnosis* / Q000209:etiology; D008159:Lumbar Vertebrae / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008382:Marfan Syndrome / Q000175:diagnosis*; D009192:Myelography; D011183:Postoperative Complications / Q000175:diagnosis* / Q000601:surgery; D012447:Sacrum / Q000473:pathology; D013126:Spinal Nerve Roots / Q000473:pathology; D013353:Subdural Effusion / Q000175:diagnosis* / Q000601:surgery