Korean J Radiol.  2009 Jun;10(3):307-309. 10.3348/kjr.2009.10.3.307.

Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly

• Koplay M
• Onbas O
• Alper F
• Borekci B

• KMID: 1779459
• DOI: http://doi.org/10.3348/kjr.2009.10.3.307

Abstract

Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and precise prenatal diagnosis would be of great value. This case report describes extensive PKD involvement, already present in utero, in a patient with HPE and subdural effusion visible by MR imaging. The detailed anatomic information obtained by the MR imaging can guide the surgical planning and can aid antenatal counseling.

Keyword

Holoprosencephaly; Polycystic kidney disease; Prenatal diagnosis; Magnetic resonance (MR)

MeSH Terms

Adult
Female
Fetal Death
Holoprosencephaly/complications/*diagnosis/embryology/pathology
Humans
Magnetic Resonance Imaging/*methods
Polycystic Kidney Diseases/complications/*diagnosis/embryology/pathology
Pregnancy
Prenatal Diagnosis/*methods

Figure

• 

  Fig. 1 Sagittal MR image (A) using half-fourier acquisition single-shot turbo spinecho (HASTE) sequence shows holoprosencephaly, cortical atrophy hydrocephaly with enlarged ventricle in fixed brain where falx cerebri and interhemispheric fissure were absent (arrowhead) along with enlarged fetal kidneys (white arrow). Axial MR image (B) using same sequence reveals enlarged fetal kidneys with increased intensity and multiple millimetric renal cysts (white arrows).

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