Retroflexed holoprosencephaly

We report a case of holoprosencephaly with retroflexion and discuss the usefulness of X-ray CT in its diagnosis. A 2-month-old infant, admitted with severe hydrocephalus, underwent a ventriculo-peritoneal shunt. The brain was retroflexed with subdural fluid collection after the procedure. The pathological condition was, however, gradually improved by the use of an additional subduro-peritoneal shunt. The shift and distortion of the brain were observed by means of serial X-ray CT scans. MRI revealed the brain stuck mainly to the frontal bone, monoventricle, the so-called dorsal sac, and probably the pituitary gland, but not the fourth ventricle nor the aqueduct. Sagittal and coronal sections of MRI and axial sections of X-ray CT proved to be useful in the diagnosis and classification of the holoprosencephaly, even without other, invasive diagnostic procedures. (author)