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A full term male newborn was delivered vaginally with
lower limb deformities. The mother was a non-diabetic primigravida. The
deformities were in the form of hyperextension of the lower limbs (Fig.
1), club foot, hypoplastic
femur and tibia (Fig. 2). The baby had motor and sensory
neurological deficit in the form of lower motor neuron paraplegia and
absent anal reflex. There was no imperforate anus but it was malposed.
There were two sinuses on either sides of the buttocks. There was no
other neural tube defect or renal abnormalities on sonography.
Caudal regression syndrome, also known as caudal
dysplasia or sacral agenesis syndrome is a congenital malformation
characterized by various degrees of developmental failure involving
legs, lumbar, sacral and coccygeal vertebra, and corresponding segments
of spinal cord due to defect in neuralisation. This results in motor and
sensory deficits. Other congenital anomalies such as gastrointestinal,
genito-urinary or congenital heart disease may be present. A history of
maternal diabetes is obtained in 16% of such infants.
Archna B. Patel,
Ramesh L. Renge,
Department of Pediatrics and
Clinical Epidemiology Unit,
Indira Gandhi Medical College,
Nagpur, MS, India.
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| Fig.1. Newborn showing hyperextension
of lower limbs.
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Fig.2. X-ray showing hypoplastic femur,
tibia and absent sacrum.
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