A case of holoprosencephaly with atypical CT findings and no facial anomaly.

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We report a case of a 3 month old female infant, presenting with an increased tension of the fontanelle, cramp and irritability. No abnormality was noted during the periods of her mother's pregnancy and delivery. Although the CT findings in this case apparently revealed seemingly the pattern of severe subdural effusion, the cerebral ventricle was proved to be single. Cerebral angiography showed the anterior cerebral artery running along the frontal base. The sylvian triangle was not formed in the arterial phase. In the venous phase, deep cerebral veins (straight sinus, internal cerebral and the Galen veins) were not visualized although a variety of abnormal vein net works were observed. Holoprosencephaly was diagnosed this time. In this case, the histological findings at the operation confirmed that the subdural effusion-like space on CT was actually the dorsal sac. As DeMyer mentioned, this case was compatible with the morphology of holoprosencephaly in that cerebral parenchyma was retroflexed in a posterior direction. The patient did not show any facial malformations and the CT findings were also atypical appearance. The definite diagnosis was, therefore, made possible only by cerebral angiography in this case.
久留米大学医学部 The Kurume Medical Journal 編集部の論文