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First case report of caudal regression syndrome in a Syrian patient with unusual clinical presentation

Journal of Pediatrics & Neonatal Care
Mayssane Jari,<sup>1</sup> Pia Kiwan,<sup>2</sup> Robert Sacy<sup>3</sup>


Agenesis of the sacrum, lumbar and thoracic vertebrae, is a congenital malformation, associated with other complex genetic syndromes. Sacral agenesis is the partial, or total absence of lower vertebral bodies, can occur isolated or in association with other syndromes including spinal cord anomaly such as (VACTREL syndrome, and Currarino triad).1 The incidence of sacral agenesis is 1/50 000 in general population but is 200 times more frequent in infants of diabetic mothers.2 Usually, children with sacral agenesis have dysmorphic features; to note that around 20% of the cases are undetected until the age of 3- 4 years old and many are diagnosed after unsuccessful toilet training. One of the rarest congenital disorders is “Caudal regression syndrome” that affects the distal spinal segments and result in sequelae on the development of the spinal cord. This syndrome has a low incidence in general population, it is characterized by lower limbs deformities with sensory and motor loss, along with neurogenic bladder however, intelligence is conserved. The exact etiology is vague, yet there is an obvious relation with maternal diabetes. Also, the true cause is still unknown, some theories, state the role of genetic factors, hypoperfusion, and teratogens in the pathogenesis of this syndrome. Treatment is mostly supportive, and multidisciplinary. Prenatal imaging studies allow for consistent detection and diagnosis. The physical exam and the diagnostic test required in the newborn period help in the detection of probable complications and establishing a prognosis. We present a clinical case of a girl with a diagnosis of Caudal regression syndrome, describing the workup and management of this patient.


caudal regression syndrome, caudal vertebral dysgenesis, caudal vertebral agenesis, sacral agenesis, neural tube defects