mid brain malformations

7/24/2019 mid brain malformations

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Imaging midbrain andhindbrain

malformations

Dan Doherty, Kathleen J Millen, A James Barkovich. Midbrain andhindbrain malformations: advances in clinical diagnosis, imaging, and

genetics. Lancet Nerol. "#$% A&r'$"()*:%+$-%


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PredominantlyCerebellar

Dandy alker malformation

Lissence&haly and cerebellarmalformation

/hombence&halosyna&sis

0ther cerebellarmalformations

1erebellar dy&lasia

Cerebellar and brainstem

2ontocerebellar hy&o&lasia

Jobert syndrome1obble stone malformations

PredominantlyBrainstem

3ori4ontal ga4e &alsy ith

&rogressive scoliosisMoebis syndrome

Predominantlymidbrain

Dience&halic mesence&halic

5nction dys&lasia

Unclassied and unidentied


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21 hy&o&lasia " 6 Less severe

21 hy&o&lasia ) 6 Most severe

Microce&haly 7n ne born 6 8y&e )

Develo&s over time 6 8y&e "

9ei4res common in ty&e " and )

8y&e 6 7ncreased 19; lactate levels


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1A9K related mtation

2rogressive microce&haly and&ontocerebellar hy&o&lasia thata chromosome More common in girls

Lethal in boys


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2ontine tegmental ca&dys&lasia

Mlti&le cranial nero&athies 3earing loss

8rigeminal anaesthesia

;acial &aralysis

Di?clty salloing

1ongenital heart, kidney, vertebrae, andrib defects

/e&orted in s&oradic male and femalecases ithot a


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CHMP1A-related &ontocerebellar hy&o&lasia

Ac=ired microce&haly, increased e@tremitytone and contractres

1ongenital disorders of glycosylation ty&e$a

/etinitis &igmentosa

7ncreased transaminase concentrations

1oaglo&athy 3y&othyroidism hy&ogonadism

9ei4res strokelike e&isodes


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3ori4ontal a4e 2alsy ith 2rogressive9coliosis

2rogressive scoliosis dring earlychildhood and congenital eyemovement abnormalities


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1ri d chat syndrome

1atlike high&itched cries

2sychomotorretardation

Microce&halyand

hy&ertelorism

mid brain malformations

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