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False positive MRI for lobar holoprosencephaly?
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False positive MRI for lobar holoprosencephaly?

Hello,

I have a 3 month old daughter that was born with multiple congenital anamolies--- include cleft lip/palate, hemifacial microsomia w/microtic r. ear, heterotaxy syndrome with malrotated intestines and polysplenia and associated complex congenital heart defects, and centrally mediated diabetes inspidus. She was born in a nationally ranked children's hospital who believed she would most likely be born with agenesis of the corpus collosum. She had an MRI done w/ contrast at this hospital when she was diagnosed with diabetes inspidus. The findings of this MRI were an absence of the septum pellucidum with all other brain anatomy findings as normal.

My daughter was med-flighted to a hospital closer to our home when she was two months old. She began having seizures and another MRI (w/o contrast) was ordered. On this MRI they noted the absence of the septum pellicidum, and also diagnosed her with lobar holoprosencephaly. I've spoken with the first hospital and their assessment of their MRI of my daughter stands firm in that they see no evidence of HPE on their MRI scan. The second hospital is just as adamant that they see it; I have looked at both MRIs and the first MRI w/ contrast shows a fully defined cleft throughout her entire brain, and the second MRI definitely shows lobar HPE.

One of the two has to be wrong. Before we seek out a third opinion, I wanted to ask: What are the false positive and false negative rates for diagnosing HPE with MRI? Does it make a difference in the MRI is done w/ or w/o contrast? Does at age at time of MRI make a difference (one at 4 weeks old, one at 8 weeks old?).

(In case it is relevant, she had a normal karotype and micro-array, including specifically looking for L-S-O syndrome, Di-George Syndrome and a handful of others. All genetic work-up has returned normal).

Thank you for your time
Avatar_dr_m_tn
Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.

Sorry to hear that you are having a difficult time with your daughter’s medical care.

Holoprosencephaly is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain (which forms the cerebral hemispheres and thalami) early in gestation. It is important to realize that HPE encompasses a continuum of brain malformations including (in order of decreasing severity): alobar, semilobar, lobar, and middle interhemispheric variant type HPE.

Now a MRI brain performed with standard 1.5 Tesla should be good enough to diagnose a lobar holoprosencephaly unless it is on the very mild edge of the spectrum. Doing the MRI with or without contrast does not matter because the standard T1 and T2 sequences should show the HPE. Age in very young children can sometimes change the appearance of some structures on MRI but HPE findings would not typically evolve.

I would recommend obtaining the MRI films on disc from each hospital and having the radiologists from your current hospital look and read BOTH MRIs. This will probably help clarify the picture further.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck
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