Meckel-Gruber Syndrome with unilateral renal agenesis

J Coll Physicians Surg Pak. 2015 Apr:25 Suppl 1:S56-7.


Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia. With a recurrence risk of 25% this lethal syndrome can be detected in early screening by ultrasound. However, to the authors' knowledge, association of MKS with unilateral renal agenesis was reported only once until now. Here, we describe a case of 26-year primigravida with 23 weeks pregnancy whose detailed sonographical examination of the fetus revealed large encephalocele through the posterior fontanelle microcephaly, anhydramnios, unilateral left enlarged polycystic kidney and right sided renal agenesis. The pregnancy was wilfully terminated on medical grounds. Risk for subsequent pregnancies was explained to the parents.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abortion, Induced
  • Adult
  • Ciliary Motility Disorders / diagnostic imaging*
  • Congenital Abnormalities / diagnostic imaging*
  • Encephalocele / diagnostic imaging*
  • Female
  • Gestational Age
  • Humans
  • Kidney / abnormalities*
  • Kidney / diagnostic imaging
  • Kidney Diseases / congenital*
  • Kidney Diseases / diagnostic imaging
  • Oligohydramnios / diagnostic imaging*
  • Oligohydramnios / etiology
  • Polycystic Kidney Diseases / diagnostic imaging*
  • Pregnancy
  • Prenatal Diagnosis*
  • Retinitis Pigmentosa
  • Ultrasonography, Prenatal / methods*

Supplementary concepts

  • Hereditary renal agenesis
  • Meckel syndrome type 1