Holoprosencephaly

Holoprosencephaly
Presentation by: Lindsay Higgins

Holoprosencephaly

* In holoprosencephaly, the prosencephalon fails to cleave down the midline, creating a single cerebral hemisphere and ventricle.
* The severity of holoprosencephaly is related to how completely the frontal regions of the brain are developed. The corpus callosum can be used as an approximate marker of brain development in holoprosencephaly. The further anterior the corupus forms, the better developed the brain.
* Three types: Alobar, Semilobar, and Lobar

Etiology of Holoprosencephaly
* Maternal Diabetes Mellitus
* Trisomy 13 (Patau Syndrome)
* Trisomy 18 (Edwards Syndrome)
* Fetal Alcohol Syndrome: Holoprosencephaly is the most severe manifestation of Fetal Alcohol Syndrome. It is especially associated with alcohol abuse during the first 4 weeks of pregnancy.
* Inherited mutations of genes HPE1, HPE2, HPE3, HPE4, HPE5
* Spontaneous mutations of Sonic Hedgehog Gene, which causes an autosomal dominant form of holoprosencephaly

Types of Holoprosencephaly
Alobar Holoprosencephaly
Semilobar Holoprosencephaly
Lobar Holoprosencephaly
References

Holoprosencephaly .ppt