Scoliosis in tuberous sclerosis: A case report

Bryan Menapace; Viral Jain

doi:10.1016/j.jorep.2023.100288

View/Download PDF

Buy Reprints

PDF

Translate this page into:

Case Report

2024

:3;

100288

doi:

10.1016/j.jorep.2023.100288

Scoliosis in tuberous sclerosis: A case report

Bryan Menapace^a,, Viral Jain^b

a University of Cincinnati Medical Center, Cincinnati, OH, USA

b Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA

∗Corresponding author: Bryan Menapace. bryanmenapace@gmail.com

Received: 2023-8-14, Accepted: 2023-11-21, Published: 2023-11-24

Disclaimer:
This article was originally published by Reed Elsevier India Pvt. Ltd. and was migrated to Scientific Scholar after the change of Publisher.

Abstract

Case. A patient with a history of tuberous sclerosis that presented with scoliosis. Despite adequate nonoperative management, the curve subsequently progressed and necessitated correction with spinal fusion. Conclusion. This report presents a unique case of possibly syndromic scoliosis, related to tuberous sclerosis, along with treatment challenges for such a case.

1 Introduction

Tuberous sclerosis (TS) was first described in 1880 by Désiré-Magloire Bourneville,¹ French neurologist. TS is now better understood, despite an incidence of approximately 1 per 8,000.²^,³ It is due to an autosomal dominant genetic mutation impacting the gene loci of TSC1 of chromosome 9 and TSC2 of chromosome 16, which encode for hamartin and tuberin, respectively, and these mutations result in uncontrolled localized cellular proliferation.

One of the most clinically apparent and frequent locations of proliferation are in the form of skin macules and fibromas, occurring in 90–100 % of patients.²^,³ TS patients typically also are epileptic and occasionally have cerebral palsy due to intracranial manifestations. Other frequently identified tumor locations include the kidneys, eyes, and heart.

Orthopaedic findings are infrequent, reported mainly in case series, and spine involvement is even rarer.^4–6 In one series from 1969, 2 of the 32 TS patients (6.3 %) were reported to have scoliosis that appeared “typical of those seen in cerebral palsy.“⁴ Additionally, one case series from 1981⁶ describes six of their 12 TS patients (50 %) as having scoliotic curves averaging 37° (range: 12°-78°), though three of those six had cerebral palsy. Management of these TS patients’ scoliosis was not discussed in either publication.

Because of the exceptional rarity of scoliosis in TS, there are no recent reports of scoliosis in TS and there has never been a description of treatment. This article provides a new case of a patient with scoliosis and TS, along with a first-time report of the longitudinal management of the curve.

1.1

1.1 Statement of informed consent

Consent was attained from the patient's legal guardian for publication of this case report.

1.2

1.2 Initial scoliosis presentation

The patient first presented in orthopaedic clinic at 11 years, 11 months of age for a consultation regarding a “possible spine curvature”. His history was notable for TS, gastroschisis, hydrocephalus, premature adrenarche, and a subependymal giant cell astrocytoma. His past surgical history included gastroschisis closure along with ventricular peritoneal shunt placement just before 8 years of age with subsequent revision. Two prior abdominal Magnetic Resonance Imaging (MRI) performed at ages 4-years, 5-months and 9-years, 4-months, which included the thoracolumbar spine, were negative any vertebral or spinal cord pathology.

Clinically, he was asymptomatic. On exam, his height was 166cm and weight was 85.8kg (Body-Mass Index (BMI) 31.1). Evaluation revealed symmetric shoulders and iliac crests without truncal shift, and an apparent left thoracic curve with a 7-degree angular trunk rotation via scoliometer measure. He had full strength, symmetric tone, normal patellar and Achilles reflexes, and absent abdominal reflexes. Index radiographs (Fig. 1A) demonstrated a 36.6° left thoracic curvature, 39.6° thoracic kyphosis, Risser stage 0. Independent review of the prior MRIs did not identify a prior curve or any underlying pathology. The treatment plan was to initiate 18-h per day thoracolumbosacral orthosis (TLSO) wear.

A. Standing scoliosis radiographs at initial presentation (age: 11 + 11 years). B. Radiographic alignment in TLSO brace (age: 12 + 3 years).

1.3

1.3 Bracing treatment period

He was next seen approximately 6 months later. The family reported TLSO brace compliance of at least 12-h per day. His exam remained unchanged. Repeat radiographs in the brace revealed a curve correction to 29.7° and maintained kyphosis (Fig. 1B). Continued brace wear was recommended and follow up was planned in another 6 months.

He was lost to follow up for 2-years later. At his next presentation to clinic he was 14 years, 6 months old, 179cm tall, and weighed 114.3km (BMI: 35.7). He remained asymptomatic and had reportedly continued brace wear 12+ hours daily over the past 2.5 years, according to the family. Exam showed a progression of the left thoracic rotational deformity to 19-degrees angular trunk rotation, and he had a new right thoracolumbar rotation of 8-degrees. Repeat radiographs showed a short segment, 69.8° left thoracic curve, Risser stage 4. Due to the progression of his curve despite reported compliant brace ware, a recommendation for posterior spinal fusion (PSF) was made. Leading up to surgery, his curve continued to progress to 78.1°, and traction and bending radiographs were taken at his preoperative visit four months later (Fig. 2). The spine appeared stiff.

Preoperative upright radiographs including standing anterior-posterior, lateral, right bending, left bending, and traction (age: 14 + 9 years).

1.4

1.4 Surgical management

PSF was performed at age 14 years, 11 months. He was positioned prone on an open Wilson frame. Neuromonitoring was placed. A standard midline posterior approach was utilized. During the approach, the paraspinal musculature was noted to have increased tightness than typically seen in idiopathic cases, per the senior surgeon's 16-year experience. Of note, there was concern for a disruption of the pleura beneath the right T10 transverse process, directly at the concave apex of the thoracic curve. No intervention was necessitated at that time.

Facetectomies were performed, and the facet joints were noted to have increased cartilage wear. The curve was also noted to be too stiff between T6 and T10 to achieve sufficient reduction, necessitating three levels of Ponte osteotomies to improve correction. Pedicle screws were placed by freehand technique, confirmed by fluoroscopy, and tested with impedances. Bone quality was noted to be normal, as were pedicle diameter and orientation.

Gradual derotation and kyphosis restoration was performed by segmental derotation technique followed by compression-distraction technique. Prior to completion of the case, a prophylactic right-sided chest tube was placed under fluoroscopy. The incision was then closed in layered fashion over a hemovac drain.

1.5

1.5 Postoperative course

The patient was admitted to the floor. He was out of bed as tolerated starting on postoperative day (POD) 1. He was advanced to a regular diet. He received 24-h of postoperative cefazolin. His pain was managed by intravenous and then oral medications. The hemovac drain was removed on POD 2.

On POD 3, he had worsening shortness of breath and a pleural effusion was noted. An additional right-sided chest tube was placed by interventional radiology, and the patient was transferred to the intensive care unit for closer monitoring. By POD 4, his effusion was radiographically improving, and he was able to ambulate with physical therapy. On POD 6 he was walking the hallways. His respiratory symptoms and radiographic effusion progressively resolved and both chest tubes were removed by POD 7. He returned to the floor, and, on POD8, he was discharged home.

1.6

1.6 Outpatient follow-up

The patient was seen for follow up at the 4-week, 12-week, 6-month, and 12-month timepoints. His 4-week and 12-month postoperative radiographs are shown in Fig. 3A and B, respectively. At each of these visits he was noted to be progressively improving without any spinal complication.

A. Standing postoperative radiographs at 4 weeks (age: 14 + 11 years). B. Standing postoperative radiographs at 12 months (age: 15 + 10 years).

2 Discussion

This case report serves as a first description of the findings and management of a patient with both scoliosis and TS. Given the rarity of this combination, it is not currently known if these two have an underlying pathophysiologic association or if the scoliosis was purely idiopathic. There are a few critical observations worth highlighting that may indicate that this patient's curve was different from typical adolescent idiopathic scoliosis (AIS).

Preoperatively, AIS has a 72% success rate of bracing within three years,⁷ whereas in nonidiopathic scoliosis such as neuromuscular, bracing is typically not recommended due to poor prevention of progression.⁸ This patient rapidly failed bracing despite reported compliance, progressing over 40° in under three years. While truly compliant brace wear cannot be proven, the family remained confident he was wearing his brace daily. Additionally, this patient presented with >40° of thoracic kyphosis, while AIS is frequently associated with hypokyphosis.⁹ Furthermore, he had a short segment and left sided curve, compared with the usually gradual, right sided main thoracic curves in AIS.

Intraoperatively, he had unique findings atypical from AIS, based on the experience of the senior pediatric spine surgeon involved and his 16 years of experience. The patient's spine was noted to be stiff with degenerative facet cartilage and tight paraspinal musculature. Additionally, he experienced pulmonary complications, are not uncommon in the neuromuscular¹⁰ and congenital¹¹ scoliosis populations. There are no published cases of PSF in TS scoliosis to which to compare these findings.

This case report serves to shed light on the bracing management and perioperative findings in a patient with scoliosis and TS. While more data is needed to evaluate for correlation and/or causation between scoliosis and TS, this case hopefully will generate discussion, provide information, and help guide management for future providers who find themselves treating a patient with this unique combination.

Author contribution

The lead author contributed to patient care, attaining consent, and composing and submitting the manuscript, the senior author contributed to patient care and manuscript editing.

Funding/sponsorship

There was no funding for this study and manuscript.

Institutional ethical committee approval

Institutional IRB not required for case series of three or less individuals and are not considered Human Subject's Research. HIPAA Privacy Rule restrictions were followed.

References

Brigo F., Lattanzi S., Trinka E., et al . First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840-1909) Neuropathology. 2018;38(6):577-582.
[Google Scholar]
[Google Scholar]
Randle S.C., . Tuberous sclerosis complex: a review. Pediatr Ann. 2017;46(4):e166-e171.
[Google Scholar]
Smith T.K., Gregersen G.G., Samilson R.L., . Orthopaedic problems associated with tuberous sclerosis. J Bone Joint Surg Am. 1969;51(1):97-102.
[Google Scholar]
Stosic-Opincal T., Peric V., Lilic G., Gavrilovic S., Milakovic B., Grujicic D., . Spine MRI findings in a patient with tuberous sclerosis: a case report--part II. Spine. 2005;30(8):992-993.
[Google Scholar]
Madigan R.R., Wallace S.L., . Scoliosis associated with tuberous sclerosis. J Tenn Med Assoc. 1981;74(9):643-644.
[Google Scholar]
Weinstein S.L., Dolan L.A., Wright J.G., Dobbs M.B., . Effects of bracing in adolescents with idiopathic scoliosis. N Engl J Med. 2013;369(16):1512-1521.
[Google Scholar]
Olafsson Y., Saraste H., Al-Dabbagh Z., . Brace treatment in neuromuscular spine deformity. J Pediatr Orthop. 1999;19(3):376-379.
[Google Scholar]
Abelin-Genevois K., Sassi D., Verdun S., Roussouly P., . Sagittal classification in adolescent idiopathic scoliosis: original description and therapeutic implications. Eur Spine J. 2018;27(9):2192-2202.
[Google Scholar]
Mohamad F., Parent S., Pawelek J., et al . Perioperative complications after surgical correction in neuromuscular scoliosis. J Pediatr Orthop. 2007;27(4):392-397.
[Google Scholar]
Yin S., Tao H., Du H., et al . Postoperative pulmonary complications following posterior spinal instrumentation and fusion for congenital scoliosis. PLoS One. 2018;13(11)
[Google Scholar]