Long-term outcomes in sacral agenesis.

INTRODUCTION: Sacral agenesis (SA) includes a range of clinical presentations of varying severity, with implications for function and quality of life (QoL). Diagnosis is often made perinatally, and prognostic discussions become an important aspect of parental counselling. This study engaged SA sufferers and their caregivers to obtain objective, long-term patient reported outcome data. METHOD: Patients with radiologically confirmed SA from a single tertiary spinal unit underwent retrospective medical record review. Patients were then contacted by telephone to complete QoL questionnaires including EQ-ED-5L for adults and EQ-ED-Y for < 16-year-olds. Additional information including Renshaw grade, employment, living situation and bladder function was also collected. RESULTS: Twenty-six patients with SA were identified. Mean age is 23.35 years (range 0.92-63.53), 13 M:17F. Renshaw grade ranged from 1 to 4. Sixty-eight percent had associated kyphoscoliotic deformities. The majority (70%) had either impaired or absent bladder control, and 80% need walking aids to mobilise. Twenty patients completed the questionnaire (10 adults and 10 < 16-year-olds). Mean EQ-ED-5L index for adults was +0.474 (range -0.1 to +0.089, 1 = best), with a lower mean value of +0.287 (range -0.54 to +1) for the < 16-year cohort. Those undergoing spinal fusion procedures had significantly lower scores (-0.08 v +0.44, p = 0.022). CONCLUSION: This study provides an objective record of the QoL of individuals with SA, illustrating a wide variety of outcomes, with differences between younger and older individuals which may reflect the results of a long-term adaptive process. The implications for individuals should be carefully tailored to the specific deformity and the likely underlying neurological deficits.

Symptomatic Epidural Gas-containing Cyst from Intervertebral Vacuum Phenomenon.

Vacuum disc phenomenon is a collection of gas in the intervertebral disc space but rarely causes nerve compression. However, some rare type of vacuum phenomenon in the spinal canal may bring about posterior gas displacement within the epidural space. The authors describe two patients with symptomatic epidural gas-containing cyst that seem to be originating from vacuum phenomenon in the intervertebral disc, causing lumbosacral radiculopathy. Radiographic studies demonstrated intervertebral vacuum phenomenon and accumulation of gas in the lumbar epidural space compressing the dural sac and the nerve root. The nerve root in both patients was compressed by gas containing cyst that was surrounded by thin walled capsule separable from the gaseous degenerated disc space. The speculative mechanism of the nerve root compression is discussed. The possibility of gas containing cyst should be considered in case of the nerve root compression in which epidural gas is present.