Currently, congenital and genetic causes are perceived to be uncommon. Recently, it has been shown that null mutations of HPSE2, or less commonly LRIG genes, code for proteins that work in a common pathway to facilitate neural growth into the bladder. Ochoa first reported the autosomal recessive association of urofacial syndrome with a probable mapping to gene 10q23-q24. Ochoa syndrome (urofacial syndrome) is a rare condition characterized by congenital urinary bladder dysfunction, obstructed voiding, frequent VUR, and upper tract dilatation/damage together with constipation in association with an abnormal grimace upon smiling, laughing, and crying. DV has been described in males with Down’s syndrome. The early and severe presentation (in some cases antenatally), rules out learnt maladaptation and points to congenital or genetic causes possibly associated with subclinical changes in the pons and pontine micturition center. Ī number of authors have reported congenital syndromes presenting with severe obstructed voiding in the absence of neuroanatomical abnormalities and associated upper tract deterioration. These two terms are not interchangeable, as whilst the dyscoordination between detrusor and sphincter may be similar the underlying etiology is not. Simultaneous contraction of the sphincter and detrusor in the presence of a neurological condition is described as detrusor sphincter dyssynergia. The voiding phase is not generally implicated.ĭV on the other hand is dysfunction of the sphincter during voiding and refers only to the voiding phase in anatomically and neurologically intact patients. The classic symptom is that of urgency with additional holding maneuvers, urge incontinence, urinary frequency, DUI, and NE. īy far the commonest condition causing LUTD in children is overactive bladder (OAB) associated with uninhibited detrusor contractions during the storage phase of bladder function on invasive urodynamics. A recent study of children over the age of 4 years presenting with UTI showed that 59% had LUTD (90% and 60% of these suffering from DUI and NE, respectively) compared with 2% of controls, and 37% had significant impairment in quality of life compared with 0% of controls. Lower urinary tract dysfunction (LUTD), usually manifested as nocturnal enuresis (NE) and/or daytime urinary incontinence (DUI) together with the common associations of constipation, fecal incontinence, and UTI, results in failure to attain normal continence patterns. By 5 years of age, children should be continent both by day and by night with increasing bladder volumes (expected bladder capacity EBC = (age/years + 1) × 30 ml, from 4 to 12 years) and normal urinary frequency of 4–7 times/day. This immature pattern improves and resolves by the time of toilet training. Neonatal voiding is however characterized by small frequent voids every 1–2 h with an immature pattern of interrupted detrusor-sphincter dyscoordinated voiding seen in 30% of cases with associated incomplete bladder emptying. The initial concept that babies micturate via a reflex spinal pathway is no longer held with evidence that neonates are aware of voiding with involvement of CNS centers and later development of voluntary control. Once toilet-training is achieved, voluntary initiation of voiding over a wide range of bladder volumes can be initiated at will in an “on-off” manner facilitated via a series of positive feedback loops using supraspinal pathways. The bladder is an unusual autonomic visceral organ in that it interfaces with a voluntarily controlled somatic sphincter. Smooth coordination between the two phases of storage and micturition depends on intact neural pathways in the central nervous system in the cortical, pontine, and sacral micturition centers, which allow social planning and timing, coordination, and amplification, respectively. This allows the lowest possible detrusor pressure able to overcome outflow resistance during voiding with complete emptying of the bladder. Voiding or micturition phase where parasympathetic stimulation from the sacral micturition center (S2-S4) via the pelvic nerve facilitates detrusor contraction and internal sphincter relaxation, and somatic input via the pudendal nerve relaxes the external urethral sphincter.
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