Presentation
Primigravida pregnancy women at 32 weeks gestational age present with decreased fetal movement.
Patient Data
Single viable intrauterine pregnancy with a fetal heart rate of 139 beats/m. Gestational age is about 32 weeks by FL, breech in position. The amniotic fluid index decreased, measuring about 2 cm3 (severe oligohydramnios), normal umbilical cord structure (two arteries and one vein), and normal diastolic blood flow (RI: 0.7).
Fetal ultrasound revealed enlarged kidneys measuring 7 x 3 cm and 8 x 4 cm, with multiple cortical cystic lesions replacing the renal parenchyma and no stone or back pressure.
Microcephaly and focal skull bone defect at occipital bone with herniation of brain element outside the skull as well as the meninges forming large cystic lesion (occipital encephalocele).
Mild ascites were seen around the falciform ligament of the liver with mild pericardial effusion and ventricular septal defect (VSD).
Case Discussion
Meckel-Gruber syndrome is a rare lethal hereditary disorder with an autosomal recessive inheritance.
Our patient is primigravida pregnant woman at 32 weeks gestational age, revealing signs of fetal Meckel-Gruber syndrome, including severe oligohydramnios, enlarged both kidneys with multiple cortical cystic lesions replacing the renal parenchyma, microcephaly with occipital encephalocele, mild ascites, mild pericardial effusion, and ventriculi septal defect (VSD).
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