Miller-Dieker syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
'''Miller-Dieker syndrome''' is a [[disease]] characterised by a developmental defect of the [[brain]], caused by incomplete neuronal migration. | '''Miller-Dieker syndrome''' is a [[disease]] characterised by a developmental defect of the [[brain]], caused by incomplete neuronal migration. | ||
== | ==Historical Perspective== | ||
It is named for JQ Miller<ref name="pmid14066999">{{cite journal |author=Miller JQ |title=Lissencephaly in 2 siblings |journal=Neurology |volume=13 |issue= |pages=841-50 |year=1963 |pmid=14066999 |doi=}}</ref> and H. Dieker.<ref>Dieker, H.; Edwards, R. H.; ZuRhein, G. et al. The lissencephaly syndrome.In: Bergsma, D. : The Clinical Delineation of Birth Defects: Malformation Syndromes. New York: National Foundation-March of Dimes (pub.) II 1969. Pp. 53-64.</ref> | |||
[[ | ==Pathophysiology== | ||
===Pathology=== | |||
The [[brain]] is smooth (also known as [[lissencephaly]]), has an absence of [[Sulcus (neuroanatomy)|sulci]] and [[Gyrus|gyri]], has a [[cerebral cortex]] 4 layers thick instead of 6 and shows [[microcephaly]]. There are multiple abnormalities of the [[brain]], [[heart]], [[kidney]] and [[gastrointestinal tract]]. | |||
==Genetics== | ===Genetics=== | ||
Originally thought to be an [[autosomal]] [[recessive]] disorder, it is now known to be an autosomal [[dominant]] disorder, and a [[haploinsufficiency]] of one or more [[gene]]s on [[chromosome]] 17p. | Originally thought to be an [[autosomal]] [[recessive]] disorder, it is now known to be an autosomal [[dominant]] disorder, and a [[haploinsufficiency]] of one or more [[gene]]s on [[chromosome]] 17p. | ||
The disease arises from the [[deletion]] of part of 17p (which includes both the [[LIS1]] and [[14-3-3 epsilon]] gene), leading to partial [[monosomy]]. There may be unbalanced [[Chromosomal translocation|translocations]] (ie 17q:17p or 12q:17p), or the presence of a [[ring chromosome]] 17. | The disease arises from the [[deletion]] of part of 17p (which includes both the [[LIS1]] and [[14-3-3 epsilon]] gene), leading to partial [[monosomy]]. There may be unbalanced [[Chromosomal translocation|translocations]] (ie 17q:17p or 12q:17p), or the presence of a [[ring chromosome]] 17. | ||
==Natural History, COmplications, Prognosis=== | |||
There is [[delayed growth]] and [[delayed mental development]]. Death tends to occur in infancy and childhood. | |||
==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | |||
*[[Failure to thrive]] | |||
*[[Feeding difficulties]] | |||
*[[Seizures]] | |||
*Decreased spontaneous activity | |||
===Physical Examination=== | |||
====Head==== | |||
*[[Microcephaly]] | |||
*There is a characteristic facial appearance, , | |||
===Laboratory Findings=== | |||
The disease may be diagnosed by cytogenetic techniques, testing for a [[microdeletion]] at LIS1.<ref name="pmid17437911">{{cite journal |author=Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K |title=Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome |journal=Pediatr. Neurol. |volume=36 |issue=4 |pages=258-60 |year=2007 |pmid=17437911 |doi=10.1016/j.pediatrneurol.2006.11.015}}</ref> | The disease may be diagnosed by cytogenetic techniques, testing for a [[microdeletion]] at LIS1.<ref name="pmid17437911">{{cite journal |author=Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K |title=Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome |journal=Pediatr. Neurol. |volume=36 |issue=4 |pages=258-60 |year=2007 |pmid=17437911 |doi=10.1016/j.pediatrneurol.2006.11.015}}</ref> | ||
==References== | ==References== | ||
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{{Chromosomal abnormalities}} | {{Chromosomal abnormalities}} | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Latest revision as of 12:57, 31 July 2012
| Miller-Dieker syndrome | |
| ICD-9 | 758.33 |
|---|---|
| OMIM | 247200 |
| DiseasesDB | 29494 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Miller-Dieker syndrome is a disease characterised by a developmental defect of the brain, caused by incomplete neuronal migration.
Historical Perspective
It is named for JQ Miller[1] and H. Dieker.[2]
Pathophysiology
Pathology
The brain is smooth (also known as lissencephaly), has an absence of sulci and gyri, has a cerebral cortex 4 layers thick instead of 6 and shows microcephaly. There are multiple abnormalities of the brain, heart, kidney and gastrointestinal tract.
Genetics
Originally thought to be an autosomal recessive disorder, it is now known to be an autosomal dominant disorder, and a haploinsufficiency of one or more genes on chromosome 17p.
The disease arises from the deletion of part of 17p (which includes both the LIS1 and 14-3-3 epsilon gene), leading to partial monosomy. There may be unbalanced translocations (ie 17q:17p or 12q:17p), or the presence of a ring chromosome 17.
Natural History, COmplications, Prognosis=
There is delayed growth and delayed mental development. Death tends to occur in infancy and childhood.
Diagnosis
Symptoms
- Failure to thrive
- Feeding difficulties
- Seizures
- Decreased spontaneous activity
Physical Examination
Head
- Microcephaly
- There is a characteristic facial appearance, ,
Laboratory Findings
The disease may be diagnosed by cytogenetic techniques, testing for a microdeletion at LIS1.[3]
References
- ↑ Miller JQ (1963). "Lissencephaly in 2 siblings". Neurology. 13: 841–50. PMID 14066999.
- ↑ Dieker, H.; Edwards, R. H.; ZuRhein, G. et al. The lissencephaly syndrome.In: Bergsma, D. : The Clinical Delineation of Birth Defects: Malformation Syndromes. New York: National Foundation-March of Dimes (pub.) II 1969. Pp. 53-64.
- ↑ Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K (2007). "Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome". Pediatr. Neurol. 36 (4): 258–60. doi:10.1016/j.pediatrneurol.2006.11.015. PMID 17437911.