| H01561 | |
| H番号 | H01561 |
| 名称 | キアリ奇形; アーノルド・キアリ症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA03 LA07.4 ICD-10: Q07.0 MeSH: D001139 OMIM: 118420 207950 |
| 文献 | PMID:22576785 著者 Grazzi L, Andrasik F タイトル Headaches and Arnold-Chiari syndrome: when to suspect and how to investigate. 雑誌 Curr Pain Headache Rep 16:350-3 (2012) DOI:10.1007/s11916-012-0270-2 PMID:20228456 著者 Vannemreddy P, Nourbakhsh A, Willis B, Guthikonda B タイトル Congenital Chiari malformations. 雑誌 Neurol India 58:6-14 (2010) DOI:10.4103/0028-3886.60387 PMID:25653995 著者 Ganesh D, Sagayaraj BM, Barua RK, Sharma N, Ranga U タイトル Arnold Chiari malformation with spina bifida: a lost opportunity of folic Acid supplementation. 雑誌 J Clin Diagn Res 8:OD01-3 (2014) DOI:10.7860/JCDR/2014/11242.5335 PMID:23468202 著者 Welsch M, Antes S, Kiefer M, Meyer S, Eymann R タイトル Association of Chiari malformation and vitamin B12 deficit in a family. 雑誌 Childs Nerv Syst 29:1193-8 (2013) DOI:10.1007/s00381-013-2056-1 |