J Neurosurg (1 Suppl Pediatrics) 106:48–52, 2007 48 J. Neurosurg: Pediatrics / Volume 106 / January, 2007 PONTANEOUS intracranial hypotension with severe headache secondary to a CSF leak is a well-estab- lished condition. 21,25,34 Recently, dural ectasia has been described as a common finding in patients with connective tissue disorders and it is purported to be implicated in CSF leakage at these dural weak points. 6,8,9,21,28 We present a case of a child suffering from headaches in whom we discovered both tonsillar herniation and dural ectasia of the sacral nerve roots. Tonsillar herniation is a known complication of a CSF leak after lumbar puncture and lumboperitoneal shunt place- ment. 4,23 To our knowledge, however, this is the first report- ed case of a patient with Marfan syndrome presenting with a symptomatic spontaneous CSF leak complicated by ton- sillar herniation. Case Report History and Examination. This 12-year-old girl was ad- mitted to Hôpital Necker–Enfants Malades in November 2003 with a 6-month history of biparietal and occipital headaches, which were more severe when the patient was in an upright position and were relieved with recumbency. The headaches were refractory to treatment with analgesics. Prior to referral to our institution, the girl had been seen by several doctors. Her parents had become increasingly con- cerned as her appetite waned. Eventually she was given the diagnosis of psychological dysfunction and anorexia ner- vosa. A screening cerebral MR imaging study (T 1 -weighted sequences with and without contrast medium and T 2 - weighted sequences) had revealed tonsillar herniation (Fig. 1 upper). As a result of this finding the patient was referred to our unit. On examination, the child was found to have the charac- teristic marfanoid appearance and arachnodactyly. She was taller and thinner than her parents; her height was 1.7 m and she weighed 30 kg. Her limbs were disproportionately long compared with her trunk. Scoliosis of 20˚ and joint hyper- mobility were noted. She appeared unwell, was obviously lethargic, and clinically dehydrated. A detailed neurological examination revealed no abnormality. The patient had re- producible postural headache, accompanied by nausea and Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome Case report STÉPHANIE PUGET , M.D., 1 CHARLES KONDAGESKI, M.D., 1 ALISON WRAY , F.R.A.C.S., 2 NATHALIE BODDAERT , M.D., 1 THOMAS ROUJEAU, M.D., 1 FEDERICO DI ROCCO, M.D., 1 MICHEL ZERAH, M.D., 1 AND CHRISTIAN SAINTE-ROSE, M.D. 1 1 Department of Pediatric Neurosurgery, Hôpital Necker–Enfants Malades, Paris, France; and 2 Department of Neurosurgery, Royal Children’s Hospital, Melbourne, Australia The authors describe the case of a 12-year-old girl with Marfan syndrome, sacral dural ectasia, and tonsillar herni- ation, 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, recogni- tion of the clinical signs and typical MR imaging features of SIH may lead to more appropriate and less invasive treat- ment, potentially avoiding surgery. KEY WORDS • intracranial hypotension • tonsillar herniation • Chiari malformation • Marfan syndrome • blood patch • pediatric neurosurgery S Abbreviations used in this paper: CM-I = Chiari malformation Type I; CSF = cerebrospinal fluid; MR = magnetic resonance; SIH = spontaneous intracranial hypotension.