| H01561 | |
| H number | H01561 |
| Name | Chiari malformation; Arnold-Chiari syndrome |
| Description | Chiari malformations, also known as Arnold-Chiari syndrome, is a group of syndromes consisting of different kinds of pathologic conditions of the posterior fossa development. They are congenital in most cases, caused by structural defects in the brain spinal cord which may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformations are acquired after birth. Causes of acquired Chiari malformations involve injuries, exposure to harmful substances, infections. More rarely, chronic subdural hematoma can be the cause of progressive caudal descent of the cerebellar tonsils. Chiari malformations were classified by Hans Chiari in 1891, into four groups. Chiari malformation type I (CM I), the most frequent of Chiari malformations, is characterized by the inferior displacement of cerebellar tonsillas through the foramen magnum. This leads to different symptoms and clinical features, such as headaches, syringomyelia, and hydrocephalus. CM II is characterized by displacement of the parts of the inferior vermis, pons, and medulla oblongata together with elongation of the fourth ventricle. Most cases are associated with myelomeningocele. CM III is characterized by an occipital or cervical encephalocele along with the intracranial abnormalities seen with CM II malformation and a wide foramen magnum. It causes severe neurological defects. CM IV is characterized by marked cerebellar hypoplasia or aplasia. |
| Category | Congenital malformation |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA03 LA07.4 ICD-10: Q07.0 MeSH: D001139 OMIM: 118420 207950 |
| Reference | PMID:22576785 AUTHORS Grazzi L, Andrasik F TITLE Headaches and Arnold-Chiari syndrome: when to suspect and how to investigate. JOURNAL Curr Pain Headache Rep 16:350-3 (2012) DOI:10.1007/s11916-012-0270-2 PMID:20228456 AUTHORS Vannemreddy P, Nourbakhsh A, Willis B, Guthikonda B TITLE Congenital Chiari malformations. JOURNAL Neurol India 58:6-14 (2010) DOI:10.4103/0028-3886.60387 PMID:25653995 AUTHORS Ganesh D, Sagayaraj BM, Barua RK, Sharma N, Ranga U TITLE Arnold Chiari malformation with spina bifida: a lost opportunity of folic Acid supplementation. JOURNAL J Clin Diagn Res 8:OD01-3 (2014) DOI:10.7860/JCDR/2014/11242.5335 PMID:23468202 AUTHORS Welsch M, Antes S, Kiefer M, Meyer S, Eymann R TITLE Association of Chiari malformation and vitamin B12 deficit in a family. JOURNAL Childs Nerv Syst 29:1193-8 (2013) DOI:10.1007/s00381-013-2056-1 |