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2011-04-08-12 Answer to the case of the week #295 © Bronshtein

Answer to the case of the week #297

June 9, 2011 - June 23, 2011
Moshe Bronshtein, MD.

Department Obstetrics Gynecology, Rambam Medical Center, Haifa, 31096 Israel.

Case report

This is a case of a 22-year-old G1 P0 with non-contributive personal and family history. Her first ultrasound scan was done at 22 weeks and reported as normal.
She was referred to our department at 34 weeks of gestation for a suspicion of cytomegalovirus infection with a severe intrauterine growth restriction (34/27 weeks), decreased amount of the amniotic fluid, mild ventriculomegaly and bilateral cataract. Our exam confirmed the referral findings. Our additional findings were absent cerebellar vermis, Tetralogy of Fallot, echogenic kidneys and polydactyly.
Persistent hyperplastic primary vitreous was found bilaterally.
The final diagnosis was trisomy 13.

Persistent hyperplastic primary vitreous is usually unilateral. Bilateral persistent hyperplastic primary vitreous is often associated with trisomy 13 or 18.

Images 1,2: Image 1 shows an example of the congenital cataract in 15 weeks. Image 2 shows congenital cataract with persistent hyaloid artery at 34 weeks.


Images 3,4
: 34 weeks, the ultrasound image of an eye. The eye is microophtalmic, with hyperechogenic lens with cataract. Persistent hyaloid artery is visible posterior to the lens. Image 4 shows a healthy eye of another fetus for comparison. Note the central sonolucency of the lens which is not present on the image 3.  

Video 1: 34 weeks, video of the affected eye with congenital cataract and persistent hyaloid artery.

Images 5,6
: The image 5 shows the microscopic image of the abnormal microphtalmic eye with lens cataract (L) and persistent hyaloid artery (arrows). Image 6 shows the macroscopic image of the affected eyes with bilateral cataract.

Images 7,8: Image 5 shows persistent hyaloid artery, cataract and persistent hypertrophic primary vitreous resulting in abnormal vision. This case is caused by a complete failure of regression of the embryological, primary vitreous and hyaloid vasculature. Image 6 shows posterior remnant of the hyaloid artery, so called Bergmeister's papillae, the vision is normal.

Images 9,10
: Image 7 shows the anterior remnant of the hyaloid artery as it joins tunica vasculosa lentis, so called Mittendorf's dot. The vision is normal. Image 8 shows the Mittendorf's dot with fibrous extension causing a congenital cataract.

 Answer from Javier Cortejoso.


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