Answer of February 2000

Clinical History:

F/newborn
Dysmorphic features at birth.

Figure 1 SXR
Figure 2 NECT brain
Figure 3 NECT brain
Figure 4 NECT brain

What is your diagnosis?

                    Figure 1                                                                        Figure 2

                          Figure 3                                                                        Figure 4

Diagnosis:

Semiobar holoprosencephaly

Discussion:

Figure 1 SXR shows midline bony defect in the maxilla and hypoteloric orbits.

Figure 2 NECT brain shows dilated bilateral temporal horns and normal posterior fossa structure.

Figure 3 NECT brain shows a dorsal cyst communicating with partiarlly formed lateral ventricles. The thalami are partially fused across the midline with absent septum pellucidum.

Figure 4 NECT brain demonstrates present of falx cerebrii and more distinct seperation of both cerebral hemisphere. This baby has semiobar holoprosencephaly.