Caudal regression is a term applied to a syndrome comprising complete or partial
agenesis of sacrum and coccyx, often associated with malformation of the lower
extremities(most commonly hypoplastic femurs), congenital heart disease, urologic
abnormalities, and malformation of the upper extremities. It is estimated that the overall
frequency of diabetes in the mothers of touch infant is l6%.
We report an autopsy case of 6 day old male infant with complete agenesis of the
sacrum, coccyx, and L5 vertebra, associated with transposition of great arteries,
ventricular septal defect, and imperforate anus.
He also had flexion deformity of both hip joints and equinovarus deformity of both
feet. In addition, there were congestion of the liver and leptomeninges, and patchy
pulmonary hemorrhage.
He was born by caesarian section due to polyhydramnios, breech presentation,
suspected congenital abnormalities, and maternal preeclampsia, with the birth weight of
3.33 kg. Immediately after birth, he did poorly showing Apgar scores of 5 and 7 after 1
and 5 minutes respectively. Blood glucose level was 40 to 55 ㎎/dl through the first 48
hours of age. A mild hypocalcemia and hyperbilirubinemia were noted. In spite of high
oxygen therapy, cyanosis and dyspnea persisted, and he died at 6days of age.
The mother was noticed to be diabetic 3 years ago, when she fell into diabetic coma
after delivery of a deadborn at 7 months of gestation. The reafter, she was managed
with diet control and insulin, intermittently. However, after 4th month of this pregnancy,
the diabetes wart well controlled till delivery.
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