 1. In 1992 a
27 year old woman was seen in our obstetric ultrasound department, because of routine sonography for her first
pregnancy of 16 weeks and 4 days. Her general history were negative, as was her family history. The
ultrasound showed dilated ventricles and an occipital encephalocele. Both kidneys showed multiple cysts (picture
1.) Diagnosis: Meckel-Gruber syndrome. A few days later her pregnancy was terminated with a sulproston infusion.
Pathology confirmed the diagnosis. Next to the already described malformations the right foot counted 6 toes, while
the left hand showed an extra finger. Because the Meckel-Gruber syndrome is a recessive disease, she was told that
she had a 25% chance of having an affected fetus in her next pregnancy. |
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2. Five months later she reported a new pregnancy. At 9 weeks she seemed to have a normal ultrasound, but at
12 weeks a cranial cyst was seen (picture 2.).
Pathology: because of the curettage it was difficult to recognize fetal parts. However two hands with 6 fingers each were found. This seems a confirmation of the diagnosis M-G syndrome.
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| 3. Six months later, when she was 13 weeks pregnant, again an encephalocele was
seen. (picture 3 and 4)
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Again she had her pregnancy terminated. This time the pathologist didn't succeed recognizing enough tissue to confirm the diagnosis. 4. We admired her courage very much when she reported her 4th pregnancy. But this one also was not good: the skull was malformed. (fig 5/6)
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Again her pregnancy was terminated and the pathologist recognized cystic kidneys but hands and feet with 5 fingers/toes. 5. A few months later she was pregnant again. This pregnancy both parents were very concerned and so were we. … But repeated ultrasound didn't reveal any abnormalities. She delivered a daughter of 3520 grams after an uneventful pregnancy. 6. Her sixth pregnancy was uneventful as well: she delivered a healthy son at term with a weight of 4075 grams. Johann Friedrich Meckel (1781-1833) was a German anatomist at the university of Halle. He described in 1822 a pair of sibs with the following malformations:
In 1934 G.B. Gruber also described this entity, that is these days known as the Meckel-Gruber syndrome. However this seems a little arbitrary and unfair, because before Gruber the syndrome has been described several times, even in the 19th century: Vrolik(1854), Foerster (1862), Casper (1864). However the identity of this syndrome was not established until 1969, when Opitz et Howe proposed the name Meckel syndrome. They delineated its clinical and pathological features. Mecke et Passarge confirmed the autosomal recessive hypothesis by a a priori method. Nowadays it is clearly an autosomal recessive disorder. This means there is a 1:4 chance (25%) of having a baby with this disorder for affected parents. Although no etiology is known, the affected chromosome is chrom.#: 17q21-q24. We were "lucky" to diagnose the first case by sonography, because it is known that the Meckel syndrome is not compatible by life after birth. Most children with the syndrome die very soon after birth, because of hypoplasia of the lungs. Although the disease is very seldom. (dependent of the geographic region), more than 200 cases have been described. There is even a forum about Meckel-Gruber WWW-forum for parents of a Meckel-Gruber baby, to the memory of Max. The Prenatal Diagnosis could be made by:
Now, more than one year later, both children are healthy (picture) . Joel, the boy shows he has 5 fingers on each hand…
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We thank both parents for their permission to show the pictures. Further reading about the pathology Meckel Syndrome: Case 98-01: Pediatric Syndromes I Literature:
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Two weeks later we also recognized both kidneys were too large. Again the pregnancy was terminated,
now by D&C.
