A 23 years old primagravida presented for routine sonographic scan with no significant complaints. According to the patient, menstrual age was approximately 30 weeks.
Image 1:
MR image confirms the presence of a high-riding third ventricle (arrow), pointed parallel anterior horns, and dilated occipital horn (colprocephaly).
Image 2:
Transverse sonogram of the fetal brain shows dilation of the occipital horn (curved arrow) and a high-riding third ventricle (arrow).
Image 3
Image 4: Axial fetal cranium
There is prominence of the ventricles but more in the occipital horns.
Image 5: Oblique fetal cranium
Image 6: long axis fetal femur
Image 7: long axis fetal femur
Image 8:
Another MR image shows wide divergence of the frontal horns and elevation of the third ventircle.
Comment:
There are two different diagnoses to this case. Visualization of the cavum septum pellucidum is absent in the fetal brain. There is an association with chromosomal disorders such as trisomy 18, holoprosencephaly, etc. of the fetal head. The fetal bone images represent a genetic disorder.
12 comments:
In the presence of an elevated third ventricle and absence of the cavum septum pellucidum, I think agenesis of the corpus callosum should be suspected. In the last image, it is confirmed that the corpus callosum is absent.
Also, it seems like the lateral ventricle is dilated. it is hard to see choroid plexus
The absent of the corpus callosum is resulted from disruption to development of the fetal brain in the first trimester. Even though the specific cause of ACC is not clearly known, research suggests that some possible causes may include chromosome errors, inherited genetic factors,
prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders.
Hye said....
I believe the images of the femur show a fracture consistent with Osteogenesis Imperfecta (Brittle Bone Disease). This is a genetic condition in which the bone are very fragile and suspectible to breaks even in utero. There are 4 different types of OI. Prognosis varies depending on the type of OI one may have.
I agree with Abby. It is agenesis of the corpus callosum with ventriculomegaly. The image said there was a promingent 3rd ventricle and absent corpus callosum and it was genetic.
i also agree that this case is Agenesis of the corpus callosum. do you know that it is a birth defect in which the structure that connects the two hemispheres of the brain the corpus callosum is partially or completely absent.
I am definitely agreeing with everyone that this is a case of agenesis of the corpus callosum. I have been doing some research and have not seen any cases where osteogenesis imperfecta was related to ACC. I have seen that skeletal dysplasia is related, but this baby's femur bones do not look particularly short or bowed. The only thing that I could find that related ACC to brittle bones is a genetic disorder called
X-Linked hydrocephalus. The little fracture in the femur does lead me to believe there is lack of calcification, which points to osteogenesis imperfecta (though the bones seem very bright and dense). I'm really not sure....
I agree with everyone that this is a clear case of agenesis of corpus callosum. It can be an isolated condition or associated with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, Andermann syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) I found this piece of information interesting: "Girls may have a gender-specific condition called Aicardi's syndrome, which causes severe mental retardation, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye."
Leah
Hi everyone,
Thank you for visiting my blog for this week. Everyon is correct! The final diagnosis is agenesis of the corpus callosum and
osteogenesis imperfecta.
Zouliath said
the lateral ventricle is dilated. It is the agenesis of the corpus callosum.
And the images of the femur show a fracture consistent with Osteogenesis Imperfecta.
Agenesis of the corpus callosum is caused by disruption to development of the fetal brain between the 3rd and 12th week of pregnancy. In most cases, it is not possible to know what caused a disorder. However, research suggests that some possible causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders.
We have 10 year old male with osteogenesis imperfecta and corpus callosal agenesis. Is there a known association or is it incidental?
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