-polymicrogyria

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/09/08 20:31:58」(JST)

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Polymicrogyria (PMG) is a developmental malformation of the human brain characterized by an excessive number of small convolutions (gyri) on the surface of the brain. Either the whole surface (generalized) or parts of the surface (focal) can be affected.

Clinical presentation

The diagnosis of PMG is merely descriptive and is not a disease in itself, nor does it describe the underlying etiology or cause of the brain malformation.

Polymicrogyria may in fact be just one piece of a syndrome of developmental abnormalities, because children born with it may suffer from a wide spectrum of other problems, including: global developmental disabilities, mild to severe mental retardation, motor dysfunctions including speech and swallowing problems, respiratory problems, and seizures. Though it is difficult to make a predictable prognosis for children with the diagnosis of PMG, there are some generalized clinical findings according to the areas of the brain that are affected.

Bilateral frontal polymicrogyria (BFP)-Cognitive and motor delay, spastic quadriparesis, epilepsy
Bilateral frontoparietal polymicrogyria (BFPP)-Severe cognitive and motor delay, seizures, dysconjugate gaze, cerebellar dysfunction
Bilateral perisylvian polymicrogyria (BPP)-Pseudobulbar signs, cognitive impairment, epilepsy, some with arthrogryposis and/or lower motor neuron disease
Bilateral parasagittal parieto-occipital polymicrogyria (BPPP)-Partial seizures, some with mental retardation
Bilateral generalized polymicrogyria (BGP)-Cognitive and motor delay of variable severity, seizures

Diagnosis

With increased use of imaging techniques such as MRI and CT, polymicrogyria is becoming more widely diagnosed. However, polymicrogyria is often misdiagnosed as pachygyria or lissencephaly, even by experienced radiologists, since the differences between these conditions can be difficult to see on an MRI or CT scan.

Pathology

Polymicrogyria is a disorder of neuronal migration resulting in structurally abnormal cerebral hemispheres. The Greek roots of the name describe its salient feature: many [poly] small [micro] gyri (convolutions in the surface of the brain). It is also characterized by shallow sulci, a slightly thicker cortex, neuronal heterotopia and enlarged ventricles. When many of these small folds are packed tightly together, PMG may resemble pachygyria (a few "thick folds" - a mild form of lissencephaly).

Etiology

Causes are genetic, viral or due to nutritional deficits during gestation.

An association with the gene WDR62 has been identified.^[1]^[2]

Support

The Cortical Foundation is a non-profit organization formed in 2011 to assist those affected by polymicrogyria; and other cortical malformations like focal cortical dysplasia, lissencephaly, tuberous sclerosis, hemimegalencephaly, schizencephaly, microcephaly, megalencephaly, and heterotopia. Join the Discussion Forum to speak with other families affected by polymicrogyria, stay updated with the latest news via the Facebook Page and Twitter Feed, and/or visit the website for general information about polymicrogyria.

References

^ Bhat, V; Girimaji, SC, Mohan, G, Arvinda, HR, Singhmar, P, Duvvari, MR, Kumar, A (2011 Apr 15). "Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.". Clinical genetics 80 (6): no–no. doi:10.1111/j.1399-0004.2011.01686.x. PMID 21496009.
^ Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB (2011) Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.Am J Med Genet A. 2011 Aug 10. doi:10.1002/ajmg.a.34165.

UpToDate Contents

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1. 幼児および小児における小頭症の病因および評価 etiology and evaluation of microcephaly in infants and children
2. 小児痙攣およびてんかんの分類、病因、および臨床的特徴の概要 overview of the classification etiology and clinical features of pediatric seizures and epilepsy
3. 先天性奇形に対するアプローチ approach to congenital malformations
4. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly
5. 毛細血管奇形（ポートワイン母斑）：臨床的特徴、診断、および関連する症候群 capillary malformations port wine stains clinical features diagnosis and associated syndromes

English Journal

Long-term follow-up of the ketogenic diet for refractory epilepsy: Multicenter Argentinean experience in 216 pediatric patients.

Caraballo R, Vaccarezza M, Cersosimo R, Rios V, Soraru A, Arroyo H, Agosta G, Escobal N, Demartini M, Maxit C, Cresta A, Marchione D, Carniello M, Panico L.SourceHospital Nacional de Pediatria "Prof Dr Juan P. Garrahan", Buenos Aires, Argentina.
Seizure : the journal of the British Epilepsy Association.Seizure.2011 Oct;20(8):640-5. Epub 2011 Jul 16.
PURPOSE: In this Argentinean retrospective, collaborative, multicenter study, we examine the efficacy and tolerability of the ketogenic diet (KD) for different epilepsy syndromes.MATERIALS AND METHODS: we evaluated the clinical records of 216 patients started on the KD between March 1, 1990 and Dece
PMID 21763159

Hemimegalencephaly: Prenatal Diagnosis and Outcome.

Alvarez RM, Garcia-Diaz L, Marquez J, Fajardo M, Rivas E, Garcia-Lozano JC, Antinolo G.SourceUnidad de Gestion Clinica de Genetica, Reproduccion y Medicina Fetal, Hospital Universitario Virgen del Rocio/CSIC/Universidad de Sevilla, Sevilla, Espana.
Fetal diagnosis and therapy.Fetal Diagn Ther.2011 Sep 14. [Epub ahead of print]
Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midli
PMID 21921574

Japanese Journal

大脳皮質形成障害(多小脳回,異所性灰白質)と透明中隔欠損を認めた症候性部分てんかんの1例

蒲谷洋平,西田拓司,仲神龍一 [他]
精神医学 53(4), 323-328, 2011-04
NAID 40018738761

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

PODURI Annapurna,CHITSAZZADEH Vida,D'ARRIGO Stefano,FEDRIZZI Ermellina,PANTALEONI Chiara,RIVA Daria,BUSSE Claudia,KUSTER Helmut,DUPLESSIS Adre,GAITANIS John,SAHIN Mustafa,GARGANTA Cheryl,TOPCU Meral,DIES Kira A.,BARRY Brenda J.,PARTLOW Jennifer,BARKOVICH A. James,WALSH Chritopher A.,CHANG Bernard S.
Brain & development 32(7), 550-555, 2010-08-01
NAID 10027491983

Related Pictures

★リンクテーブル★

リンク元	「多小脳回症」「malformations of cortical development」「多小脳回」

「多小脳回症」

Polymicrogyria
	Classification and external resources
	; This child presented with seizures. The coronal true inversion recovery sequence shows thickened and disordered cortex in superior frontal and cingulate gyri bilaterally (arrow). There are small convolutions visible at the corticomedullary junction. The appearance is that of cortical dysplasia, with polymicrogyria more likely than pachygyria due to the small convolutions visible. There are also small foci of grey matter signal in the corpus callosum, deep to the dysplastic cortex (double arrows). These probably represent areas of grey matter heterotopia.
ICD-9	742.2
DiseasesDB	33975
MeSH	D054220
GeneReviews	Polymicrogyria Overview;

　　[★]

英: polymicrogyria

多くの小さい脳回が形成される。顕微鏡的には脳回が異常に癒合しており、これらの脳回が脳溝で区切られているわけではない。大脳皮質は6層ではなく、4層構造となっている。(APT.454)

「malformations of cortical development」

　　[★]

大脳皮質形成異常

関: MCD、polymicrogyria

「多小脳回」

　　[★]

英: polymicrogyria
関: 大脳皮質形成異常

[pmid21496009-0] Bhat, V; Girimaji, SC, Mohan, G, Arvinda, HR, Singhmar, P, Duvvari, MR, Kumar, A (2011 Apr 15). "Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.". Clinical genetics 80 (6): no–no. doi:10.1111/j.1399-0004.2011.01686.x. PMID 21496009.

[Murdock2011-1] Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB (2011) Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.Am J Med Genet A. 2011 Aug 10. doi:10.1002/ajmg.a.34165.

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polymicrogyria