Lumbosacral agenesis in a premature infant of a diabetic mother.

We report a non-familial case of lumbosacral agenesis born to a type 1 diabetic mother who had hyperglycemia during pregnancy despite regular insulin therapy. The male baby was noted to have atrophy of pelvis, flattening of the buttocks, and deformity of the lower limbs at birth. Spinal X-ray film revealed total agenesis of lumbar, sacral, and caudal spines. Magnetic resonance image disclosed interruption of the spinal cord at the level of T12 and adhesion between the two malrotated kidneys. Peripheral blood cytogenetic study revealed a normal male karyotype. Recurrent episodes of respiratory distress and urinary tract infection had bothered the patient subsequently. It is suggested that lumbosacral agenesis, a severe congenital defect, might be one of the anomalies of diabetic embryopathy.