MECKEL GRUBER SYNDROME


Presentation :

24 year old lady was referred for targeted anomaly scan around 22 weeks of gestation.

History of consanguinity was present . She had married her uncle ( mother’s brother ).

She was Gravida 4 Para 0 MTP 3 – for proven MECKEL GRUBER SYNDROME. She and her husband had undergone genetic work up and have been found to be unaffected carriers.

File:Autorecessive.svg

SO THE CHANCES WERE THAT 1 IN 4 CHANCE FOR AN AFFECTED FETUS. BUT THIS IS LIKE RUSSIAN ROULETTE – YOU DON’T KNOW YOUR CHANCE . AND SO FAR THEY HAVE HAD 3 OUT OF 3 AFFECTED .

WHAT IS MECKEL GRUBER SYNDROME ?

Meckel Gruber Syndrome (MGS) is a rare and lethal

autosomal recessive disorder characterized by occipltal
encephalocele, bilateral polycystic dysplastic kidneys and
post-axial polydactly .
Although numerous abnormalities associated with
MGS were previously reported in the literature, DandyWalker malformation , microcephaly, intrauterine growth retardation (IUGR), single umbilical artery,
cardiovascular defects, cleft palate , several genital
abnormalities , oligohydramnios  are the most
well known. Hepatic periportal fibrosis  and
hydrocephalus  were also noted in some cases. The
incidence of this rare syndrome has been estimated as 1 in
50,000 .

THIS PATIENT HAD THE FOLLOWING FINDINGS :

Placentomegaly with placental cysts

Placentomegaly with placental cysts

microcephaly (BPD &HC are less than <2.3 %tile )

microcephaly ( both BPD and HC are

occipital encephalocele

occipital encephalocele

enlarged and hyperechoic kidneys

enlarged kidneys with poor power doppler flow

narrow , bell shaped chest , suggestive of pulmonary hypoplasia

posterior fossa showed Dandy Walker malformation

DANDY WALKER MALFORMATION

Sadly that made it  4 out of 4 . The patient was advised termination of pregnancy as this was a lethal anomaly

3 thoughts on “MECKEL GRUBER SYNDROME

  1. Nice presentation.
    I have to admit that I am extremely sensitive to genetics.
    why not publish your findings in a reputed journal like NEJM / BMJ

    Like

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