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Sacralization ofthefifth Lumbar

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Vertebra

FedericoCanavese

32.1 Definition

Bertolotti syndrome (BS), or sacralization of the fth lumbar vertebra, is a congenital transitional anomaly of the lumbosacral spine characterized by a transverse mega-apophysis of L5 merging or articulating with the iliac wing and/or sacrum; it can be unilateral or bilateral.

32.2 Natural History

BS is linked to a congenital transitional anomaly of the lumbosacral spine. Ossication of the transverse mega-apophysis occurs at the end of skeletal maturation, at which time the impingement may become symptomatic. As a consequence, malformations that were tolerated during childhood may become symptomatic in young adults. In particular, BS is responsible for about 5% of low-back pain cases in the general population (15% to 20% in individuals younger than 30years of age).

Untreated patients can develop disabling chronic low-back pain and neurological complications (lower-limb pain) related to impingement between the megaapophysis and the underlying nerve root.

Supplementary Information The online version contains supplementary material available at (https://doi.org/10.1007/978- 3- 030- 80356- 8_32).

F. Canavese (*) Department of Pediatric Orthopedic Surgery, Lille University Center, Jeanne de Flandre Hospital, Lille, France

Faculty of Medicine Henri Warembourg, Nord-de-France University, Lille, France

https://doi.org/10.1007/978-3-030-80356-8_32

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F. Canavese

32.3 Physical Examination

BS is a common cause of low-back pain in young patients (Chaps. 11 and 41). The transitional anomaly of the lumbosacral spine is generally associated with lumbosacral or gluteal pain. Neurological examination completes the physical examination (Video 32.4).

32.4 Imaging

The radiographic diagnosis of BS is straightforward. Standard anterior-posterior (AP) radiograph of the lumbosacral spine allows identication of the transverse mega-apophysis of L5 (Fig.32.1), in most cases; AP radiograph of the lumbosacral spine with a 30° cranial angulation (Ferguson) has a higher sensitivity in detecting the transitional anomaly. The Castellvi Classication identies four types of lumbosacral transitional vertebrae, according to the shape of the transverse process and the presence/absence of neo-joint (Appendix L).

Complementary investigations, such as magnetic resonance imaging (MRI) and computed tomography scan of the lumbosacral spine can conrm the lumbosacral transitional anomaly with uni- or bilateral sacralization of L5 (Fig.32.2), the transverse apophysomegaly, and the presence/absence of transverse process-sacrum/iliac

Fig. 32.1 AP radiograph of the spine showing the L5-S1 abnormality (left side) and scoliosis related to back pain

32 Sacralization ofthefth Lumbar Vertebra

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Fig. 32.2 CT scan with 3D reconstruction (sacralization of the fth lumbar vertebra; left side)

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wing neo-joint (pseudo-joint). MRI can show intramedullary bone edema of the involved transverse process and, frequently, a hypoplastic L5-S1 intervertebral disc.

Bone scintigraphy can show hyper-xation at the level of the neo-joint, and signs of transverse process-sacroiliac impingement, providing additional support for a diagnosis of BS.

32.5 Differential Diagnosis

The other causes of low-back pain in children should be ruled out (Chap. 11).

32.6 Treatment Options

The treatment of BS in children is controversial and includes physiotherapy, medical treatment, inltration, and surgery. Nonsteroidal anti-inammatory drugs and/or muscular relaxants are initially recommended. Cases resistant to medical treatment or rehabilitation, and cases with transient efcacy of inltration, are managed surgically by resection of the transverse mega-apophysis. In case of pain related to degeneration of the intervertebral disc or overlying instability, posterior segmental fusion is recommended.

To conrm the suspicion of BS, inltration with corticosteroids and local anesthetic of the transverse process-sacrum/iliac wing neo-joint can be performed under uoroscopic control; in particular, inltration is used to differentiate patients with pain originating exclusively at the neo-joint (complete pain relief following injection) from those with additional pain due to the irritation of the L4 or L5 nerve root.

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F. Canavese

32.7 Expected Outcomes

In patients treated conservatively, the outcome is variable; resolution of symptoms should be expected in patients treated surgically, although neurological signs may not completely resolve after decompression if treatment is performed too late.

32.8 Potential Complications

Untreated patients can develop disabling low-back pain and neurological complications (lower-limb pain) related to impingement between the mega-apophysis and the underlying nerve root.

32.9 What Should Patient andFamily Know?

The presence of transverse mega-apophysis affects about 20% of subjects; on the other hand, the presence of a neo-joint (pseudo-joint) between the transverse megaapophysis of L5 and the sacrum and/or iliac wing is found in less than 10% of patients with BS.

BS can be a source of chronic low-back pain; in some cases, neurological signs can develop and may not completely resolve if they are treated too late.

Further Readings

Bertolotti M.Contribution to the knowledge of the defects of regional differentiation of the ver-

tebral column with special attention to the fusion of the fth lumbar vertebra to the sacrum.

Radiol Med. 1917;4:113–4. Castellvi AE, Goldstein LA, Chan DP.Lumbosacral transitional vertebrae and their relationship

with lumbar extradural defects. Spine (Phila Pa 1976). 1984;9(5):493–5.

Osteoid Osteoma andOsteoblastoma

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KrishnaV.Suresh andPaulD.Sponseller

33.1 Definition

Osteoid osteoma is a benign bone-forming tumor, characterized by a small, radiolucent nidus typically less than 2cm, which produces high levels of prostaglandins and osteocalcin (Fig.33.1). Osteoblastoma is morphologically and genetically similar to osteoid osteoma but differs primarily on the size of the lesion (more than 2cm), areas of involvement, patient presentation, and treatment (Fig.33.2). Osteoid osteoma and osteoblastoma account for approximately 10% and 3% of all benign bone tumors, respectively, and in the spine, primary osteoblastoma accounts for 10% of all osseous spinal neoplasms.

33.2 Natural History

Untreated osteoid osteoma spontaneously resolves over several years. In contrast, untreated osteoblastoma is progressive and will continue to grow, with worsening pain, damage to adjacent healthy bone, and impingement on nearby neurovascular structures.

Supplementary Information The online version contains supplementary material available at (https://doi.org/10.1007/978- 3- 030- 80356- 8_33).

K. V. Suresh · P. D. Sponseller (*) Department of Orthopaedic Surgery, The Johns Hopkins University Hospital, Baltimore, MD, USA e-mail: kvangip1@jhmi.edu; psponse@jhmi.edu

https://doi.org/10.1007/978-3-030-80356-8_33

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Fig. 33.1 Axial CT view of lumbar osteoid osteoma:

1.5×0.7×0.7cm lytic lesion located in left L4 pedicle. Note the rim of reactive sclerosis. Orange arrow indicates lesion

K. V. Suresh and P. D. Sponseller

Fig. 33.2 T2 MRI view of cervical osteoblastoma: (a) Axial cut: Orange arrow indicates lesion at right C2 pedicle. (b) Sagittal cut: Orange line indicates the level of lesion. Lesion appears as hyperintense signal surrounding a central nidus

33.3 Physical Examination

Physical examination for osteoid osteoma and osteoblastoma is similar (Table33.1). The examination may show a palpable area of bone that is tender to touch. The mass may be swollen and erythematous, and may be accompanied by deformity, effusion, contracture, or atrophy in the affected extremity. Thorough neurologic examination is essential, especially in patients with known or suspected spinal involvement

33 Osteoid Osteoma andOsteoblastoma

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Table 33.1 Osteoid osteoma versus osteoblastoma

Osteoid osteoma

Incidence 10% of benign tumors 3% of benign tumors

Size <2cm >2cm Location Proximal femur>tibia

diaphysis>spine Natural history Spontaneously resolves Progressive Symptoms Nocturnal pain, relieved by

NSAIDs

Management First line: medical therapy

(NSAIDs)

Osteoblastoma

10% of all spinal osseous lesions

Spine>proximal humerus>hip

More chronic pain, dull aches, and not relieved by NSAIDs. Spine involvement more likely to have neurologic symptoms

First line: surgery (RFA or surgical resection)

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(Video 33.4). Spinal involvement can manifest as postural scoliosis accompanied by muscle spasms at rest or activity. Focal neurologic symptoms can be highly variable depending on the level of the lesion and the extent of soft tissue extension, bony destruction, and cord compression.

Presenting signs. Osteoid osteoma typically presents in the second decade of life but can also be found in pediatric patients. The most common complaint is progressively dull and aching pain that is particularly increased at night and may or may not be related to the activity (Chaps. 11 and 41). Characteristically, the pain resolves with the administration of nonsteroidal anti-inammatory medications (NSAIDs). Osteoid osteoma is most commonly found in the lower extremities (50%), spine (15%), hand (10%), or feet (5%). Patients can present with limp, muscle atrophy, leg-length discrepancy, and point tenderness at the site of the lesion. In patients with spine lesions, scoliosis (Fig.33.3), paraspinal muscle spasms secondary to localized inammatory reactions, and a restricted range of motion may also be present. Osteoblastoma may present similarly to osteoid osteoma but is signicantly less responsive to NSAIDs. More commonly than osteoid osteoma patients, osteoblastoma patients have isolated spinal involvement, with 40% of patients having isolated spinal lesions. Symptoms can involve any part of the spine, with approximately one-third of patients complaining of neurologic symptoms such as paraplegia or paraparesis. Radicular symptoms, secondary to soft-tissue involvement and mass effect, occur in approximately 50% of patients. Paraspinal muscle spasms and restricted spinal range of motion may also be present.

33.4 Imaging

On plain radiographs, osteoid osteoma appears as a <2cm radiolucent nidus surrounded by reactive sclerosis. Osteoblastoma appears very similar to osteoid osteoma but is a larger lesion (>2cm). Lesions may not be visible on radiographs due to location in spine or increased cortical thickening around the nidus. In these cases,

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K. V. Suresh and P. D. Sponseller

Fig. 33.3 Scoliosis status post T11 osteoid osteoma resection in female patient: (a) Preoperative axial CT: it demonstrates osteoid osteoma in right super articular process of T11. Orange arrow indicates lesion. (b) Preoperative AP lm: moderate left-sided curve measuring approximately 24°. Orange lines represent end vertebrae. (c) AP view lm taken six months postoperatively: Resolved curvature

Computed tomography (CT) scan is the next preferred imaging modality for spinal lesions, to identify the size and location of the lesion (Fig.33.1). Magnetic resonance imaging (MRI) is generally not recommended due to the are phenomenon which refers to soft-tissue swelling and edema adjacent to the lesion that may falsely suggest more malignant or infectious etiologies. If MRI imaging is obtained, lesions appear as high-intensity signals on T2 sequences due to calcication and vascularity of the lesions. For osteoblastoma, lesions are typically found in posterior elements of the vertebrae, including laminae, pedicles, transverse processes, and spinous processes (Fig.33.2).

33.5 Differential Diagnosis

Differentials for osteoid osteoma include osteoblastoma (Table 33.1), stress fracture, and osteomyelitis. Features in favor of osteoid osteoma are: (1) pain at rest or activity and lesions parallel to the cortex (versus pain relief with rest and perpendicular or oblique fractures lines in stress fractures); (2) <2cm in size (versus >2cm in size for osteoblastoma); and (3) absence of systemic signs of infection with no radiographic signs of periosteal reaction/elevation, periosteal purulence, or signicant cortex destruction (all seen in osteomyelitis) (Fig.33.3). The differential for

33 Osteoid Osteoma andOsteoblastoma

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osteoblastoma overlaps with osteoid osteoma but can also include osteosarcoma (Chap. 38) and aneurysmal bone cyst (Chap. 56).

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33.6 Treatment Options

For osteoid osteoma, rst-line treatment is clinical observation and NSAID treatment. Approximately 50% of these cases can be managed with NSAIDs alone. In patients with osteoid osteoma with spinal involvement, NSAIDs can be used for pain control in patients without concurrent scoliosis. In patients with pain refractory to NSAIDs, osteoblastoma must be considered and operative management is recommended. Medical management is not effective in patients with osteoblastoma. Operative management can be performed with CT-guided radiofrequency ablation (RFA) or supercial resection. RFA is rst-line therapy in patients who fail medical therapy and who have periarticular extremity lesions. RFA is generally avoided in patients with lesions immediately adjacent to spinal cord or nerve roots due to a high risk of thermal neurovascular injury. In these patients, surgical resection, either with curettage/biopsy (Video 33.8) or total en-bloc resection (preferred option), is indicated. Scoliosis associated with these lesions rarely requires additional treatment and typically resolves after resection.

33.7 Expected Outcomes

Most commonly, the removal of the radiolucent focus results in total pain relief. For osteoblastoma, the prognosis following surgical resection is good, although recurrence rates can be as high as 20% if the lesion has grown outside the bone. A locally aggressive subtype of osteoblastoma has been identied and is more common in older patients. Aggressive subtypes can display more signicant vertebral and epidural involvement.

33.8 Potential Complications

Ten to 15% of patients treated with RFA can experience recurrence of lesions. In patients who underwent supercial resection with curettage, recurrence rates are typically 10% to 20%. Successful operative treatment is dependent on complete resection of the nidus, with no remnants.

33.9 What Should Patient andFamily Know?

Osteoid osteoma and osteoblastoma are benign bone tumors that both have excellent prognosis. Some of osteoid osteomas respond well to medications, can be managed conservatively, and resolve spontaneously, while osteoblastoma is usually progressive and requires surgical intervention.

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K. V. Suresh and P. D. Sponseller