Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

Reinstein, Eyal; Pariani, Mitchel; Bannykh, Serguei; Rimoin, David L.; Schievink, Wouter I.

doi:10.1038/ejhg.2012.191

Cited by 71 publications

(43 citation statements)

References 22 publications

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“…However, some caution should be exercised in extrapolating directly from PVNH to dyslexia with respect to this mechanism. Widespread neuronal ectopias do not predict existence or pattern of reading impairment (Reinstein et al, 2012) and may be associated with non-verbal learning impairment (McCann et al, 2008). …”

Section: Relationships Between Candidate Genes and Brain Structurementioning

confidence: 99%

The Genetics of Reading Disabilities: From Phenotypes to Candidate Genes

Raskind¹,

Peter²,

Richards³

et al. 2013

Front. Psychology

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This article provides an overview of (a) issues in definition and diagnosis of specific reading disabilities at the behavioral level that may occur in different constellations of developmental and phenotypic profiles (patterns); (b) rapidly expanding research on genetic heterogeneity and gene candidates for dyslexia and other reading disabilities; (c) emerging research on gene-brain relationships; and (d) current understanding of epigenetic mechanisms whereby environmental events may alter behavioral expression of genetic variations. A glossary of genetic terms (denoted by bold font) is provided for readers not familiar with the technical terms.

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Section: Relationships Between Candidate Genes and Brain Structurementioning

confidence: 99%

The Genetics of Reading Disabilities: From Phenotypes to Candidate Genes

Raskind¹,

Peter²,

Richards³

et al. 2013

Front. Psychology

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“…A minority of SIH patients have connective tissue disorder such as Marfan syndrome or Ehlers–Danlos syndrome . To our knowledge, this is the first patient reported in the literature with SIH with underlying AOS.…”

Section: Discussionmentioning

confidence: 79%

“…Only the minority of spontaneous intracranial hypotension (SIH) patients have connective tissue disorder such as Marfan syndrome or Ehlers–Danlos syndrome …”

mentioning

confidence: 99%

“…

Abbreviations: AOS aneurysms-osteoarthritis syndrome, MRI magnetic resonance imaging, SIH spontaneous intracranial hypotensionOnly the minority of spontaneous intracranial hypotension (SIH) patients have connective tissue disorder such as Marfan syndrome 1 or Ehlers-Danlos syndrome. 2 We report a patient with SIH who appeared to have underlying aneurysms-osteoarthritis syndrome (AOS).A 55-year-old male presented to the emergency department with headache complaints since 7 weeks. One morning, he woke up with headache.

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confidence: 99%

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Spontaneous Intracranial Hypotension as First Symptom of Aneurysms‐Osteoarthritis Syndrome: A Case Report

et al. 2015

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“…Another prospective study observed HDCT in 9 of 50 patients, including the classic and joint hypermobility subtypes of Ehlers-Danlos syndrome, Marfan syndrome, and unspecified HDCT [33]. An additional eight patients in this 50-patient series met criteria for benign joint hypermobility syndrome.…”

Section: Dural Weaknessmentioning

confidence: 99%

Headache Secondary to Intracranial Hypotension

Schievink

Deline²

2014

Curr Pain Headache Rep

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Intracranial hypotension is known to occur as a result of spinal cerebrospinal fluid (CSF) leaking, which may be iatrogenic, traumatic, or spontaneous. Headache is usually, but not always, orthostatic. Spontaneous cases are recognized more readily than in previous decades as a result of a greater awareness of clinical presentations and typical cranial magnetic resonance imaging findings. An underlying disorder of connective tissue that predisposes to weakness of the dura is implicated in spontaneous spinal CSF leaks. CT, MR, and digital subtraction myelography are the imaging modalities of choice to identify spinal CSF leakage. Spinal imaging protocols continue to evolve with improved diagnostic sensitivity. Epidural blood patching is the most common initial intervention for those seeking medical attention, and may be repeated several times. Surgery is reserved for cases that fail to respond or relapse after simpler measures. While the prognosis is generally good with intervention, serious complications do occur. More research is needed to better understand the genetics and pathophysiology of dural weakness as well as physiologic compensatory mechanisms, to continue to refine imaging modalities and treatment approaches, and to evaluate short- and long-term clinical outcomes.

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Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

Cited by 71 publications

References 22 publications

The Genetics of Reading Disabilities: From Phenotypes to Candidate Genes

The Genetics of Reading Disabilities: From Phenotypes to Candidate Genes

Spontaneous Intracranial Hypotension as First Symptom of Aneurysms‐Osteoarthritis Syndrome: A Case Report

Headache Secondary to Intracranial Hypotension

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