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Neurogenic bladder
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Sacral agenesis has been defined as absence of part or all of the two or more lower vertebral bodies. Patients with sacral agenesis frequently suffer from neuropathic bladder dysfunction. Aetiology of sacral agenesis is still uncertain; however, insulin-dependent mothers have a 1% chance of giving birth to a child with sacral agenesis and 16% of children with sacral agenesis have a diabetic mother. Drug exposure (minoxidil) has also been reported to cause sacral agenesis. Familial cases of sacral agenesis associated with Currarino’s syndrome (presacral mass, sacral agenesis and ano rectal formation) may have a deletion in chromosome 7, which is responsible for neural plate infolding.
Kyphotic deformities of the spine
Published in Benjamin Joseph, Selvadurai Nayagam, Randall Loder, Ian Torode, Paediatric Orthopaedics, 2016
Dubousset7 has described three types of failure of formation leading to kyphosis: Partial failure of formation with a well-aligned canal: Symmetrical deficiency is typically seen with a butterfly hemivertebra (Figure 22.6). An asymmetrical deficiency will lead to a kyphoscoliotic deformity.Partial failure of formation with a dislocated canal: This was described in 1973 as a ‘congenital dislocation of the spine’. The risk to the cord, which is frequently dysraphic, is great and progression of the deformity can be rapid.Total failure of formation of vertebral bodies: Total failure of formation of one or more vertebrae is usually associated with congenital paralysis. This syndrome blends in with sacral agenesis.
Epidemiology of the neurogenic bladder
Published in Jacques Corcos, David Ginsberg, Gilles Karsenty, Textbook of the Neurogenic Bladder, 2015
Patrick B. Leu, Ananias C. Diokno
Sacral agenesis is defined as the absence of all or part of two or more vertebral bodies at the lower end of the spinal column. The incidence of sacral agenesis is about 0.09%–0.43% births. It occurs more frequently in children of diabetic mothers. Approximately 20% of children with sacral agenesis are not identified until they are 3–4 years old and present with difficulty in toilet training.38
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum – case report and literature review
Published in The Journal of Spinal Cord Medicine, 2018
Edyta Szumera, Barbara Jasiewicz, Tomasz Potaczek
Malformations of spine can be caused by abnormalities in cellular differentiation at the early stage of embryofetal development and they lead to either absence or defective structure of respective anatomical structures. The etiology of these deformations remains unknown, although such severe defects are usually induced by harmful factors operating at embryonic period.1 Genetically determined spinal deformities are extremely rare.2,3 Congenital absence of spine / vertebrae is among the most infrequent groups of congenital defects. Most often reported are partial and total sacral agenesis, with the incidence below 0.5%.4 Currently, absence of a sacrum and partial absence of one or more vertebrae cephalad is classified as caudal regression syndrome.5 Despite great variety of defects in this syndrome, spinal malformations are always accompanied by anomalies of the viscera, especially of urogenital system.4,5 It is often associated with neurogenic bladder, which may lead to increased risk of renal impairment caused by recurring urinary tract infections and urinary retention.6,7 Neurological deficits of various severity are often present.