出生前に診断し得た全前脳胞症の1例

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  • A Case of Holoprosencephaly Diagnosed Prenatally

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Holoprosencephaly, as described by DeMyer, is a cerebral malformation in which the embryonic prosencephalon fails to devide into cerebral hemispheres. Acording to the degree of division in the prosencephalon, he classified holoprosencephaly into three types: alobar, semilobar and lobar type. Cyclopia is the most severe form of teratologic malformations marked by midline deficiency. This disorder has been associated with a variety of chromosomal abnormalities. A variet of extracranial malformations are often found in association with a chromosomal abnormality. Identification of concurrent facial and extracranial malformations can help predict chromosomal anomalies and subsequent fetal outcome. This report describes a case of cyclops, alobar holoprosencephaly, diagnosed prenatally with ultrasound. Gross examination confirmed the presence of a proboscis and a single central eye. There were multiple gross anomalies at autopsy. Chromosomal analysis disclosed a 13 trisomy karyotype. The outcome of alobar holoprosencep haly is uniformly catastrophic. Therefore, a specific prenatal diagnosis may be very influential in the clinical manageme

全前脳胞症(Holoprosencephaly)は胎生3～6週に前脳胞が前脳と間脳に分化発達せず,左右大脳半球分離不全などを生じ,特徴的な顔面奇形をしばしば合併したものである。今回我々は超音波断層法などを用い出生前に単眼症(DeMyerの分類によるHoloprosencephaly I型)と診断し得た症例を経験した。児は33週4日にて生産したが,40分後に死亡した。剖検にて体幹部に多発大奇形を認め,臍帯血染色体分析では13トリソミーであった。顔面の特殊な異常,特異な顔貌は染色体異常や先天奇形発見の糸口となり,脳奇形の重症度にある程度の予測がたっ。全前脳胞症では高率に染色体異常を認め,特に体幹部に大奇形や多発奇形を認める時は13トリソミーなどの染色体異常を考慮せねばならない。

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