Fetal Head Abnormalites numero dos Flashcards
What is Holoprosencephaly?
failure of division of the prosencephalon (fore brain) resulting in varying degree of prosencephalon midline defects
What is the clinical presentation of holoprosencephaly?
proboscis cyclopia cleft lip/palate occular hypotelorism colitary median maxillary central incisor
What chromosomal abnormalities are associated with holoprosencephaly (aneuploidic)
Tri13 (most common)
Tri18
What is associated with holoprosencephaly (non-aneuploidic)
congenital renal anomalies congenital cardiac anomalies diabetic embryopathy facial anomalies shprintzen syndrome
What are the 3 subtypes of holoprosencephaly
alobar
semilobar
lobar
What is alobar holoprosencephaly
thalami are fused
single posterior ventricle
a/w: facial abnormalities– cyclopia, ethmocephaly, cebocephaly and median cleft lip
What is semi lobar holoprosencephaly
central lobes are present: most commonly fused anteriorly and at the thalami
olfactory tracts/bulbs are not present
agenesis/hypoplasia of CC
What is lobar holoprosencephaly
least affected
more subtle midline abnormalities: fusion of cingulate gyrus and thalami
olfactory tracts/CC can be absent or hypoplastic
Is holoprosencephaly compatible with extra uterine life?
not usually
depends on type
What is the most common type of holoprosencephaly
Alobar
There’s a lotta shit on holoprosencephaly so
review the slides
What is hydranencephaly
gross ventriculomegaly due to complete or near complete absence of cerebral tissue
What does hydranencephaly appear as?
absence of the cerebral hemispheres with an incomplete or absence falx and a sac-like structure cerebral fluid surrounding the brainstem and basal ganglia
What is the key sonographic feature of hydranencephaly?
large cranial fluid collection lacking a mantle or rim of cerebral brain tissue
Is hydranencephaly compatible with life?
no
What is schizencephaly?
clefts in the cerebral mantle (usually bilateral), lined by pia-ependyma, with communication between the ventricles and subarachnoid space
How is Dandy Walker Malformation characterized
complete agenesis of cerebellar vermis
What is a primary (congenital) arachnoid cyst
results from benign accumulation of clear fluid between the dura and the brain substance throughout the CNS
related to the arachnoid membrane and does not communicate with the subarachnoid space.
What is secondary (acquired) arachnoid cysts
result from haemorrhage, trauma, and infection
usually communicate with the subarachnoid space
Does an arachnoid cyst communicate with the ventricles?
No
What is porencephaly (porencephalic cyst)?
rare disorder
no mass effect
cystic degeneration & encephalomalacia and the formation of porencephalic cysts
Porencephaly is more severe than hydranencephaly. True or false
False– less severe
What causes porencephaly
infarction or hemorrhage into brain parenchyma due to insult in utero (abruption, trauma, infection) causing focal or widespread ischemia
necrosis and cystic resolution of brain tissue leads to cyst formation that communicates with the ventricle.
Do porencephalic cysts communicate with the ventricular system and subarachnoid space?
yes
What is Arnold Chiari malformation?
prolapse of hindbrain structures below the foramen magnum
a/w: skeletal abnormalities and neurological dysfunction
What is type 1 of Arnold Chiari?
just a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa this is mainly an incidental CT discovery
What is type 2 of Arnold Chiari?
usually involved in prenatal cases and is a congenital deformity characterized by displacement of cerebellar tonsils, parts of the cerebellum, fourth ventricle, pons, and medulla oblongata through the foramen magnum into the spinal canal
usually accompanied by hydrocephalus and myelomeningocele.
What is type 3 of Arnold Chiari?
more severe form, with large herniation of the posterior fossa content and myelomeningocele and hydrocephalus
Which type of Arnold Chiari do we see schematic changes?
Type 2
What is a sign we see in Arnold Chiari Malformation?
Bananaaaaa sign – lobes of cerebellum lost their lumpy appearance and vermian incisure aint normal