Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia

Abstract

Background and Purpose: Whole-spine magnetic resonance imaging (MRI) studies, to identify structural abnormalities associated with the development of symptomatic spinal stenosis in achondroplasia.Methods: Forty-two subjects with achondroplasia were grouped into four age-related categories. Congenital spinal deformities (vertebral body and disc height, interpedicular distance), acquired spinal degenerative changes, thoracic kyphotic (TK) angle, thoracolumbar kyphotic (TLK) angle, spinal canal widths were evaluated by MRI.Results: Patients in the first three groups were asymptomatic and younger (group 1: 4.4 ± 0.78 years; group 2: 8.18 ± 0.60 years; group 3: 10.95 ± 0.93 years) than the symptomatic group (group 4: 23 ± 1.30 years). Patients showed height of vertebral bodies, whole canal width, and average lumbar interpedicular distance reduced. Discs degeneration was more pronounced in the lumbar region and in symptomatic adult patients. TK and TLK angles showed a positive correlation with age (p < .05, r = .42; p < .05, r = .41), whereas thoracic and thoracolumbar canal width had a negative correlation (p < .05, r = −.69; p < .05, r = −.58). A negative correlation between lumbar discs degeneration and canal width was found only at L1-L3 level (p < .05, r = −.35). At L1-L3, the canal width cutoff value of .59 allowed the differentiation between asymptomatic and symptomatic patients (area under the curve of .966, p < .0001). Conclusion:In achondroplasia, the spinal canal narrowing, due to accelerated degenerative changes, is a predisposing factor of symptomatic lumbar spinal stenosis. Lumbar canal MRI is a helpful tool to detect the risk of the development of neurological symptoms; in adult patients, a stenosis higher than 60% of upper lumbar canal could be a critical value for the onset of neurological symptoms.

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions

“…DSS is often associated with achondroplasia, a type of skeletal dysplasia resulting from specific FGFR3 activating alterations. Such a complication leads to neurologic symptoms in affected individuals and thus requires surgical interventions [ 100 – 102 ]. Sporadically, congenital thoracolumbar stenosis is also noted in alkaptonuria, as described recently [ 103 ].…”

Promising horizons in achondroplasia along with the development of new drugs

“…n.d.: not determined intervention; however, a ventricular-peritoneal shunt may be performed when enlargement worsens and is associated with neurological symptoms [35]. Spinal canal stenosis tends to occur at the thoracolumbar level [42]. Spinal canal stenosis is particularly common in older children and adult patients, and can cause pain in the extremities, numbness, muscle weakness, movement disorders, intermittent claudication, and bladder-rectal disorders [27].…”

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review

“…ACH is known to be associated with an increased risk of obesity [4] and a major predisposition to abdominal obesity since early childhood, though the causes are still not fully understood [1,71,75]. It has been recognized as a major health problem in adults with ACH and it can worsen complications such as lumbar spinal stenosis, joint pain, or sleep apnea [76][77][78]. In their recent case-control study, Fredwall et al detected a higher prevalence of obesity with a body mass index (BMI) ≥ 30 kg/m 2 among 49 Norwegian adults with ACH, specifically 67% (n = 33/49) [79].…”