Noninvasive diagnosis and management of spontaneous intracranial hypotension in patients with marfan syndrome: Case Report and Review of the Literature

Dimitris Placantonakis,Taylor Wilson,Saul Penaranda,Girish Fatterpekar,Danielb Rifkin,Vineet Tyagi,Navid Behrooz,David Zagzag,Luigi Bassani,Christophers Graffeo,Maryhelen Barcellos-Hoff

doi:10.4103/2152-7806.125629

Abstract

Background:Spontaneous intracranial hypotension is an uncommon clinical entity. Heritable connective tissue disorders (HCTD), such as Marfan syndrome, are frequently implicated as an underlying cause, due to dural structural weaknesses that predispose patients to spontaneous cerebrospinal fluid (CSF) leak. Due to the high prevalence of multi-system disease in HCTD, diagnosis and treatment are often complicated.Case Description:We present a 58-year-old female with Marfan syndrome on anticoagulation for a mechanical aortic valve replacement who came to medical attention with severe, acute-onset headache following a straining episode. Noninvasive magnetic resonance (MR) myelography confirmed thoracic CSF extravasations and multiple lumbar diverticula. The patient was treated conservatively and her symptoms resolved.Conclusion:We discuss the common presentation, diagnostic tools, and treatment options for spontaneous CSF leaks in patients with Marfan syndrome or related HCTD with an emphasis on noninvasive modalities and a review of the major radiographic criteria used to diagnose dural abnormalities, such as dural ectasia.

Highlights

Spontaneous intracranial hypotension is an uncommon clinical entity
Spontaneous intracranial hypotension (SIH) is caused by cerebrospinal fluid (CSF) leak, which leads to significant volume loss from the subarachnoid space and intracranial pressure changes
An association between SIH and Heritable connective tissue disorders (HCTD) was identified by two prospective analyses, which observed evidence of HCTD in 18% and 66% of 50‐ and 18‐patient cohorts with SIH, respectively.[21,25]

Summary

Conclusion

We discuss the common presentation, diagnostic tools, and treatment options for spontaneous CSF leaks in patients with Marfan syndrome or related HCTD with an emphasis on noninvasive modalities and a review of the major radiographic criteria used to diagnose dural abnormalities, such as dural ectasia. Oosterhof’s method, which found DE in 88-94% of Marfan patients and 44-47% of controls, measures the ratio of the anteroposterior dural sac diameter to the vertebral body diameter against specified cut‐offs.[17] Ahn’s method, which found DE in 72-76% or Marfan patients and 29-44% of controls, defines DE when the midsaggital diameter of the spinal canal is greater at S1 than L4.[2] Söylen’s method multiplies the transverse and sagittal width of the dural sac at three levels per vertebral body (superior endplate, midcorpus, inferior endplate) and compares the average of the three measurements against another set of cut‐offs.[32] Several analyses have compared these criteria and found significant discrepencies between them, with Ahn’s and Söylen’s methods showing significantly more specificity than Oosterhof’s.[32,37] In this report, we omit commentary on the systems outlined by Fattori and Villeirs, as they depend on qualitative and CT criteria, respectively.[5,34] As these radiographic metrics provide an important tool for evaluating the possibility of underlying HCTD and, susceptibility to SIH, they provide important diagnostic information that may shape management decisions in patients with postural headaches. She has remained free of orthostatic headaches for 15 months since this event

Findings

DISCUSSION

CONCLUSION