Chiari malformation
نویسنده
چکیده
Chiari malformation describes a group of structural defects of the cerebellum, characterized by brain tissue protruding into the spinal canal. Chiari malformations are often associated with myelomeningocele, hydrocephalus, syringomyelia, and tethered cord syndrome. Although studies of etiology are few, an increasing number of specific genetic syndromes are found to be associated with Chiari malformations. Management primarily targets supportive care and neurosurgical intervention when necessary. Renewed effort to address current deficits in Chiari research involves work groups targeted at pathophysiology, symptoms and diagnosis, engineering and imaging analysis, treatment, pediatric issues, and related conditions. In this article, the author discusses the many aspects of diagnosis and management of Chiari malformation.
منابع مشابه
Arnold-Chiari Type II Malformation: A Case Report and Review of Prenatal Sonographic Findings
The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downward displacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into the spinal canal. This malformation is one of causative factor of death in neonates and infants. A thorough understanding of the direct and indirect sonographic findings is necessary for diagnosis of Chiari II ma...
متن کاملRelating to classification and etiology of Chiari I malformation.
Editor: In the Talal Amer and Omran M. El-Shmam review published in your journal,1 there are two types of classification for Chiari I malformation: type A, which is associated with syringomyelia and type B, which is not associated with syringomyelia. Hans Chiari (1851–1916) first reported Chiari malformation (1891) morphologically as a cerebellar tonsillar herniation with occasional fourth vent...
متن کاملChiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?
Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache...
متن کاملFamilial Aggregation of Chiari Malformation: Presentation, Pedigree, and Review of the Literature.
This article reports the largest familial aggregation of Chiari malformation in a single family to date as reported in the literature. This study is a retrospective case series of a family of whom five individuals have a confirmed case of Chiari malformation and three additional individuals have Chiari signs and symptoms. This contribution further supports the implication of genetics in the tra...
متن کاملChiari malformation presenting as loss of cerebellar substance on computed tomography.
Cerebral computed tomography (CT) is the primary imaging modality in the investigation of suspected cerebellar degeneration. A case is presented in which an inaccurate clinical and radiologic diagnosis of olivo-pontocerebellar degeneration resulted from CT imaging demonstrating loss of cerebellar substance. Subsequent clinical recognition of downbeat nystagmus led to a diagnosis of Chiari malfo...
متن کاملCoexistent holoprosencephaly and Chiari II malformation.
Chiari II malformations and holoprosencephaly have been considered to be brain malformations that differ with respect to teratogenic insult, embryologic mechanism, and morphology. We herein describe coexistent Chiari II malformation and holoprosencephaly that occurred in a viable infant. A review of the literature regarding Chiari II malformations and holoprosencephaly suggests that a disturban...
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