Search PubMed⌕ Search
Home/Archive/PubMed

PubMed · 1874153

The Chiari-I malformation.

A P Sclafani·R M DeDio·R A Hendrix
View original source ↗Export metadata ↓

Abstract

We have described the important clinical features and aspects of the Chiari-I malformations, with particular emphasis on Chiari-I malformation. Previously thought to be a rare finding with only minor significance, Chiari-I malformation is an important cause of a variety of symptoms, and will be diagnosed even more frequently as the use of MRI increases. The clinician must consider Chiari-I malformation in any patient with unexplained sensorineural hearing loss, headache, vertigo, ataxia, dysequilibrium, dysphagia or other cranial nerve symptom, especially if accompanied by more classic symptoms of this disorder, such as cervical pain or weakness.

Explore related subjects

Arnold-Chiari MalformationHumansMagnetic Resonance ImagingNeurologic ExaminationNeurosurgeryPrognosisTomography, X-Ray ComputedJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

A P Sclafani, R M DeDio, R A Hendrix. 1991. The Chiari-I malformation.. https://pubmed.ncbi.nlm.nih.gov/1874153/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2007

Is Chiari type I malformation a reason for chronic daily headache.

This article briefly reviews the spectrum of headaches associated with Chiari type I malformation and specifically analyzes current data on the possibility of this malformation as an etiology for some cases of chronic daily headache (CDH). Chiari type I malformation is definitely associated with cough headache and not with primary episodic headaches, with the rare exception of basilar migraine-like cases. With regard to CDH, there is no clear evidence supporting an association with this malformation. An MRI study would be justified only in patients showing either a Valsalva-aggravating component or cervicogenic features. Hydrocephalus and low intracranial pressure syndrome should be ruled out in patients showing tonsillar herniation in an MRI study and consulting due to daily headache.

Arnold-Chiari Malformation↗
PubMed2007

Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome. Case report.

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.

Arnold-Chiari Malformation↗
PubMed2006

Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15.

Chiari type I malformation (CMI; OMIM 118420) is narrowly defined when the tonsils of the cerebellum extend below the foramen magnum, leading to a variety of neurological symptoms. It is widely thought that a small posterior fossa (PF) volume, relative to the total cranial volume leads to a cramped cerebellum and herniation of the tonsils into the top of the spinal column. In a collection of magnetic resonance imagings (MRIs) from affected individuals and their family members, we measured correlations between ten cranial morphologies and estimated their heritability in these families. Correlations between bones delineating the PF and significant heritability of PF volume (0.955, P = 0.003) support the cramped PF theory and a genetic basis for this condition. In a collection of 23 families with 71 affected individuals, we performed a genome wide linkage screen of over 10,000 SNPs across the genome to identify regions of linkage to CMI. Two-point LOD scores on chromosome 15 reached 3.3 and multipoint scores in this region identified a 13 cM region with LOD scores over 1 (15q21.1-22.3). This region contains a biologically plausible gene for CMI, fibrillin-1, which is a major gene in Marfan syndrome and has been linked to Shprintzen-Goldberg syndrome, of which CMI is a distinguishing characteristic. Multipoint LOD scores on chromosome 9 maximized at 3.05, identifying a 40 cM region with LOD scores over 1 (9q21.33-33.1) and a tighter region with multipoint LOD scores over 2 that was only 8.5 cM. This linkage evidence supports a genetic role in Chiari malformation and justifies further exploration with fine mapping and investigation of candidate genes in these regions.

Arnold-Chiari Malformation↗