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Unusual case..please helpFrom: Mary (anonymous@obgyn.net)Tue, 29 Apr 1997 22:56:05 -0500 (CDT)
I would like to share my unusual pregnancy history with the medical professionals here on this wonderful service in hopes that they may have some leads for me to follow. First of all, I am 33 and have been pregnant 4 times over the past 12 years. My first pregnancy was uneventful until 14 wks gestation when I began to measure "larger than dates". At my 21 week tummy check I was still considerably larger than expected. An ultrasound clearly showed the reason. After a traumatic nearly 3 hour long scan with a bursting bladder and many physicians and techs pointing while whispering amongst themselves, the reason for the increased size was clear. The problems detected were: 1) acute polyhydramnios; 2) ascites; 3) pleural effusion; 4) cystic hygromas (posterior neck and abdomen); 5) arthrogryposis; 6)clubbed hands and feet; 7) omphalocele; and 8) severe hydrocephalus. We were advised to terminate the pregnancy which we did the following week. That decision has haunted me ever since. An autopsy was performed along with a chromosome analysis (46,XY "chromosomally normale male"). The autopsy confirmed the anomalies found by ultrasound and added the following: 1)4mm defect in the posterior soft palate; 2)acqueductal stenosis; 3) cortical disarray; and 4) dystrophic calcification of the brain stem. Needless to say, my second pregnancy the following year was closely watched. Thankfully, my second son was born with only a mild problem of an enlarged left kidney due to a UPJ obstrucion which has recently been surgically corrected. My third pregnancy two years later ended at 9.5 weeks in miscarriage - cause unknown. My last pregnancy ended this past December at 28.4 weeks. My husband and I decided to let nature take it's course as we couldn't bear the guilt of terminating another pregnancy. We had to give this baby every possible chance, no matter how slim. My third son was affected in the same manner as my first with a slight difference in presentation. This time the anomalies were discovered as they formed beginning with the cystic hygroma at 9.5 weeks (ironically, the hygroma regressed at 25 weeks). An early-amnio at 11.5 weeks revealed normal male chromosomes. The defects not present on this baby were the abdominal cystic hygroma, soft palate defect and brain stem calcification. Otherwise, all other anomalies were found again. In addition, the autopsy revealed: 1) bilateral hydronephrosis and renal rotation; 2) bilateral pulmonary congestion; 3) generalized edema; 4) malrotation of intestines; and 5) anterior horn cell loss, spinal cord. A muscle biopsy was performed and the final diagnosis listed 1) congenital hypomyelination neuropathy and 2) developmental muscle disorder. I must add that I have been under the care of the best doctors, nurses and u/s techs in the Twin Cities. They were all wonderful! I am especially thankful to my OB and his u/s tech for their continued support. Now for my question. Have any of you come across (or heard of) all of these anomalies presented in a similar fashion - in a single baby? My genetics counselor is researching this with a genetics professor at the University of Minnesota but so far they have not been able to identify a recognizable syndrome that would account for the anomalies seen in my two sons. They have suggested a recessive (either autosomal or x-linked) trait is involved. It appears that they will be writing this up and publishing the clinical description of my babies as a "new entity". This is my way of "helping". Getting the word out on such a broad spectrum as this forum may lead to information that may be helpful. I have to add that I am actually up to the challenge of another pregnancy. I know, call me crazy. I can't help it, I love kids and would like at least one more (basically healthy) child of my own. Hopefully, this next round of Clomid will be successful. Thank you all for your time. Any information would be greatly appreciated.
-- Mary
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