Bertolloti Syndrome – Musculoskeletal case of the month

Case Presentation

Clinical history;

• 46 year old man presents with left lower back pain
• Started getting worse as began to play more golf during the summer (right-handed player)
• Worse on golf swing at end of range, during take back and follow through
• No numbness, tingling or symptoms down the leg
• Also affecting sleep, feels unable to get comfortable
• No temperatures, weight loss, fevers or night sweats
• No bladder or bowel symptoms

Previous treatment and investigation

• GP given trial of naproxen (anti-inflammatory) with limited benefit
• No prior physiotherapy

Past Medical history;

• BMI 27
• Non-smoker
• No significant past medical history

Exercise history;

• Enjoys keeping fit with exercise classes and gym training
• Used to play semi-pro football, back pain was not an issue in younger years
• Occasional golfer, would like to play more and has therefore increase visits to golf course this year

Social history;

• Business owner
• Non drinker or smoker

Clinical examination;

• General stiffness in thoracolumbar spine on forward and lateral flexion, rotation and extension
• Lots of lumbar paraspinal muscles tension and guarding, particularly on the left
• PA translation on spinous process reveal very stiff and painful L5/S1 segment, with pain over the L5/S1 facet joint on the left
• Laslett cluster SIJ compression testing positive and painful
• Stork test with left side rotation extension provocative for pain
• No neural tension in sciatic nerve on stretch/slump testing

Point of Care Ultrasound 

Not applicable for this case

Clincial suspicions, differentials and reasoning;

1. Mechanical SIJ or facet joint degenerative change. Pain in extension on examination and in rotation during activities such as golf is usually indicative of SIJ or lumbar facet joint irritation. This patient has isolated left L5/S1 facet join pain which is fairly typical in this age group. 
2. Inflammatory spine disease. This patient had no red flag symptoms with a clear history of mechanical stimulus, making inflammatory disease less likely. However, SIJ cluster testing was markedly positive accompanied by night pain, so sinister pathology shoulder always be considered. 
3. Lumbar spine disc diesease. Although annular tears and disc inflammation (see through Modic changes on MRI) can be painful, they usually cause central back pain. There is also no history of trauma to suggest acute annular tear. 
4. Lumbar nerve root irritation. Nerve root irritation at the lumbar levels need not always present with classic sciatica symptoms down the leg. Symptoms can often be localised to the back and buttock. However, negative sciatic neural testing helps discounts a radicular element.  
5. Lumbosacral Transitional Vertebrae. Although LSTV may not be at the top of the differential diagnosis list, it is a common anatomical variant, present in up to a quater of the general population…as we shall see!

Imaging and Investigation

Image A – Sagittal MRI scan

Image B – Coronal CT scan

Image C – CT 3D reconstruction

All imaging modalities show a partially fused LSTV, with sacralisation of the left L5 transverse process. The pseudoarticulation is inflammed with oedema and chondrosis seen at the LSTV (see on MRI). No inflammation seen in the SIJ with minor facet joint degenerative change. No obvious thoracolumbar scoliosis.

Blood tests

Normal ESR
Normal HLA – B27 (+ve results would be suggestive of axial spondyloarthritis)
Normal Rheum Factor
Normal Anti – CCP (+ve results would be suggestive of rheumatoid arthritis)

Diagnosis

Bertolloti syndrome. Acute flare of the left lumbosacral transitional vertebrae segment, causing localised pain and secondary muscle tension. Although, the patient has not previous sufferred with any issues from this LSTV segment, increased exposure to golf has created a new mechanical stimulus thus aggravating the pseudojoint. 

Management

Medical treatment

• As oral anti-inflammatories prescribed by the GP proved not effective, the patient was a offerred CT guided left LSTV pseudoarticulation injection and SIJ, with anti-inflammatory and long acting local anaesthetic (see image below). This calmed down patients symptoms and allowed for proper rehabilitation

Exercise therapy

• Aim to release and improve mobility in surrounding vertebral segements in lumbar and thoracic spine
• Improve lumbar spine and gluteal muscle control 
• Adapt golf swing, asked to achieve extreme end range rotation in back swing or follow through
• Asked to monitor number of balls hit per week at driving range, graded exposure back to the golf course
• Avoid other impact training whilst rehabilitating e.g.. football

LSTV (Lumbosacral Transitional Vertebrae)

Lumbosacral transitional vertebra (LSTV) are a common anatomical variant of the spine present in around 10- 25% of the general population. 

Depending on how they and the rest of the spine looks anatomically, they can be categorised as either sacralisation of the L5 segment (fifth lumbar vertebra shows assimilation to the sacrum) or lumbarisation of the S1 segment (first sacral vertebra shows lumbar configuration), with the former being much more common than the later (98% to 2%). The degree of transition and also vary from partial to complete fusion. 

Clinical and Biomechanical considerations of LSTV

As you might expect, the clinical and biomechanical aspects of LSTV are poorly understood. LSTV may present in a variety of clinical contexts, as described below;

Clinical Considerations

• Bartolloti syndrome. The LSTV segment itself can act as a pain generator. This usually occurs in unilateral, partial articulations or pseudoarticulations, normally with the sacralisation of the L5 transverse process. A pseudo joint won’t have the cushion or lubrication between the bones that other joints in the body have to help absorb shock. The articulation can become inflammed forming a chondrosis or synchondrosis.
• Nerve root irritation. The LSTV causes a reduction in exiting foraminal space (similar to how a disc or facet joint arthopathy would do) and causes nerve root pain, presenting as a form of sciatica.
• Disc degenerative disease. The L5/S1 disc is usually preserved due to the restriction of movement and rigidity provided by the LSTV, particularly if there are bilateral LSTVs. The L4/L5 segment above therefore acts as the “lowest” mobile segment and is prone to degenerative change.
• Sacroiliac joint and adjacent ligaments dysfunction. Alter force transmission through the lumbosacral junction can create greater stresses on the sacroiliac joint. Over time the SIJ joint can become arthritic prone to acute on chronic flares.
• Muscle imbalance and LSTV. Anatomical variations can result in unequal forces on nearby muscles particularly of iliocostalis and multifidus. Often one side of the back has more muscle spasm, although both sides can be affected. Muscle tightness and spasm in the region of the lower back and pelvis can lead to feeling of stiffness and pain and poor movement mechanics. 

Biomechanical considerations

The movement mechanics across the lumbar spine in patients with LSTV is not very well understood. Key considerations when asssessing these patients are;

• Unilateral vs Bilateral LSTV. Bilateral LSTV generally have a more symetrical restriction of movement across the L5/S1 segment. Asymmetrical imbalances in force transmission through the vetebral column are more likely to occur with unilateral LSTV.
• Partial vs fully fused LSTV. The degree of fusion of the LSTV segment may affect the level of motion achieveable across the L5/S1 junction. Fully fused LSTV segments allow little if any movement, where partial fusions and pseudoarticulation may allow movement, but patients may describe blocking, stiffness, restriction or pain.  
• Scolosis and LSTV. The relationship between scolosis and LSTV is unclear. One study looked at 385 children with Adolescent Idiopathic Scolosis and showed a prevalance of LSTV of only 12%, similar to the general population. Other studies have suggested that unilateral LSTV segments can stunt growth on the effected side leading to a compensatory scoliosis. Either way, even if LSTV are not directly implicated in causing scolosis, an accompanying scolosis with an LSTV segment needs special consideration. 
• Rotational sports and activities. Sports that require rotation and extension tend to aggravate LSTV pseudoarticulations. This biomechanical trend is similar to SIJ and lumbar facet related joint pain. Again, the degree of pseudojoint inflammation may depend on the degree of fusion of the LSTV segment.  

Key Summary and learning points

• LSTV are common and should be considered in patients with lower back pain or poor spinal biomechanics
• Consideration needs to be taken into account whether the segment is;
  • unilateral or bilateral
  • partially or completely fused
• Due to depth, it is not possible to palpate LSTV segments or clearly different between SIJ/facet joint pain, imaging is usually required for diagnosis
• Radiological reporting of LSTV is important as non-recognition of this anomaly can lead to operations and procedures performed at the wrong level
• X-ray can often spot LSTV segments clearly with CT scanning providing gold standard visualisation. 
• MRI scans are usually when determining the degree of inflammation around a potential pseudoarticulation
• Rehabiltive treatment involves improving surrounding segment mobility, lumbopelvic control and strength
• Medical treatments include;
  • Oral anti-inflammatories
  • Guided injections into pseudoarticulations (usually via x-ray or CT)
  • Radiofrequency abalation or denervation of pseudoarticulation
  • Spinal fusion, single of multilevel