Marfan syndrome and symptomatic dural ectasia: A case report and literature review

다국어 초록 (Multilingual Abstract)

Dural ectasia refers to the widening or ballooning of the dural sac surrounding the spinal cord. It can affect any plane of thespinal canal, but occurs primarily in the lumbosacral region. Dural ectasia is present in 63-92% patients who have Marfansyndrome, and is related to Ehlers-Danlos syndrome, neurofibromatosis type I, and ankylosing spondylitis. The most commonsymptoms are low back pain, headache, weakness, numbness above and below the affected limb, and occasional rectaland genital pain. However, in most patients, dural ectasia is usually asymptomatic. We report the case of a 5-year-old boywho presented with a severe headache who had been diagnosed with Marfan syndrome. During the evaluation, magneticresonance imaging of the lumbar and sacral spine revealed dural ectasia. To our knowledge, this is the first report on Marfansyndrome with symptomatic dural ectasia in Korea. We concluded that dural ectasia should be suspected in patientsdiagnosed with Marfan syndrome who have a severe headache.

참고문헌 (Reference)

1 Loeys BL, "The revised Ghent nosology for the Marfan syndrome" 47 : 476-485, 2010

2 Pyeritz RE, "The Marfan syndrome: diagnosis and management" 300 : 772-777, 1979

3 Schievink WI, "Spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension" 295 : 2286-2296, 2006

4 Schievink WI, "Spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension" 84 : 598-605, 1996

5 Rando TA, "Spontaneous intracranial hypotension: report of two cases and review of the literature" 42 : 481-487, 1992

6 Tinkle BT, "Saal HM; Committee on Genetics. Health supervision for children with Marfan syndrome" 132 : e1059-e1072, 2013

7 De Paepe A, "Revised diagnostic criteria for the Marfan syndrome" 62 : 417-426, 1996

8 Veldhoen S, "Pediatric patients with Marfan syndrome: frequency of dural ectasia and its correlation with common cardiovascular manifestations" 186 : 61-66, 2014

9 Dean JC, "Marfan syndrome: clinical diagnosis and management" 15 : 724-733, 2007

10 Attanasio M, "FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations" 74 : 39-46, 2008

11 Pyeritz RE, "Dural ectasia is a common feature of the Marfan syndrome" 43 : 726-732, 1988

12 Altman A, "Dural ectasia as presenting symptom of Marfan syndrome" 10 : 194-195, 2008

13 Schick U, "Diagnostics and treatment of spontaneous intracranial hypotension" 53 : 15-20, 2010

14 Rose PS, "A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome" 2 : 278-282, 2000