Discussion Board Week 5.............

 
 
Picture of Michelle Wilson
CNS Anomalies
by Michelle Wilson - Monday, 27 January 2020, 10:48 AM
 

opportunity to seal the knowledge in our own sweet little heads!

Please don't feel like you have to describe or comment on each of these-but please do a good job of the topic you do decide to become an expert on with regards to differentiating between each, describing their sonographic features, their inclination to other syndromes or abnormal karyotypes, their outcomes and prognosis for these little tykes, and finally the genetic implications for further pregnancies or even survivors having children of their own....

anencephaly, acrania, encephaloceles, Dandy-Walker Malformation, holoprosencephaly, Arnold Chiari malformation, spinal defects, facial defects, cystic hygromas, etc (really anything we cover for the week).

 
Picture of Ellen Malchankou
Re: CNS Anomalies
by Ellen Malchankou - Monday, 27 January 2020, 6:59 PM
 

Hi everyone!

I volunteer to moderate the discussion board this week because I like to ask questions  (remember I am a teacher:).  It is not an obligatory assignment, but if you have any questions or ideas to share  on fetal CNS, face and neck pathology that helps others to learn, do not hesitate! I am looking forward  reading your posts!

Full disclosure: you will not get any points for participation in this forum.

Picture of Heather White
Re: CNS Anomalies
by Heather White - Tuesday, 28 January 2020, 4:37 PM
 

I chose to look into cystic hygromas. I found a rare case of a large anterior cervical cystic hygroma. The majority if cystic hygromas are found on the posterior/occipital calvarium at the midline. typically the prognosis for CH are good to guarded. The case study listed the following prognosis below

Prognosis: Widely disparate prognoses accompany cystic hygromas. These are dependent on genetic associations and the timing of discovery . According to Thomas30, the prognosis should be divided into four categories:
1) first trimester, normal karyotype: good;
2) first trimester, abnormal karyotype: poor;
3) second trimester and early third: poor to guarded; and
4) mid to late trimester: good.
Very large masses may compromise the airway by extrinsic pressure resulting in death. To avoid this outcome, early tracheostomy is required . Although these masses usually grow slowly, they may suddenly increase in size secondary to hemorrhage or trauma or because of a viral infection when large amounts of lymphatic fluid are produced from the lymphoid follicles in the cyst wall . Other reported clinical manifestations include fascial nerve paralysis, dysphagia, or other feeding problems . Chylothorax and chylopericardium may occur as complications of mediastinal involvement11.  Spontaneous regression during uterine life is also possible, especially in fetuses with Turner or Noonan’s syndrome and this has been used as explanation for the webbed neck seen in children with these conditions10, . The prognosis for hydrops fetalis is dismal .     

 

Unfortunetly this baby with the anterior CH did not survive. He underwent surgery to remove 3/4 of the mass, but it quickly refilled. It even spread to his under eyelids. Later the hygroma ruptured and blocked his airway. The image below is from one of his ultrasounds. The hygroma was originally found at the 20 week scan.

https://sonoworld.com/TheFetus/page.aspx?id=1096

I think this is a modified coronal view of the face and the mass is below his neck. 

DIfferentials for CH would be a goiter if anterior, teratoma or cephalocele.

There is a link between CH and chromosomal abnormalities like 18,19,20, and alcohol use. 

The risk of recurance in further pregnancies is rare, they are associated with a normal karyotype and can be inherited as an autosomal recessive trait.

Picture of Jaclyn Marr
Re: CNS Anomalies
by Jaclyn Marr - Wednesday, 29 January 2020, 8:06 PM
 

are you looking at it like this? It looks more like a sagital view to me.. ? 

I was drying to find a hard palate or nasal bone. Is the hygroma the cystic/mass i circled? Are we looking at it the same? Also seen is the Placenta..and what are the 2 symmetrical looking cystic structures? Is it nuchal? Or am I blind and those are kidneys? Where do you see it? At first I thought the 2 circles were in in the cranium..but that doesn't make sense either... I just snipping tooled the picture and drew on it with "pen." What do you see? 

Picture of Amanda Meadows
Re: CNS Anomalies
by Amanda Meadows - Thursday, 30 January 2020, 10:35 PM
 

I'm choosing Dandy-Walker Malformation because I got that question wrong on the quiz :(

Definition: developmental abnormality in the roof of the 4th ventricle

Causes: can occur as part of Mendelian disorders, chromosomal abnormalities, teratogens (infection viral, alcohol, diabetes)

Sono features: enlarged cisterna magna (>10mm) that communicates with distended 4th ventricle, absent/hypoplastic cerebellum

Associated anomalies: corpus callosum agenesis, ventriculomegaly, holoprosencephaly, cephaloceles

Differential: mega cisterna magna (enlarged CM without involvement of the 4th ventricle), arachnoid cyst

Prognosis: mortality rate = 24% but with current neurosurgical techniques mortality has been decreasing

 enlarged CM, hypoplasia of cerebellar vermis & cerebellar separation

Can you see the dilation of the lat vents & CM?? In this case, fetus had complex cyst in the abdomen (shown below), diagnosis was hemangioendothelioma along with DWM.

 

Sources: https://sonoworld.com/TheFetus/page.aspx?id=2417

Penny, Steven. (2018). Exam Review for Ultrasound: Abdomen & Obstetrics and Gynecology

 

 

Picture of Amanda Meadows
Re: CNS Anomalies
by Amanda Meadows - Thursday, 30 January 2020, 10:59 PM
 

Also... I made a rap to DWM to help me remember it, hope it helps you ladies!

(Copyright ME!.....I'm gonna be YouTube famous one day!)

Picture of Michelle Wilson
Re: CNS Anomalies
by Michelle Wilson - Monday, 3 February 2020, 6:46 AM
 

OMG that is the BEST ever!!