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The last follow-up MRI at the age of 19 years demonstrated attenuated upper cervical cord with associated myelomalacia.
Source publication
Introduction
Osteochondromas are usually found in the long bones of patients with hereditary multiple exostoses (HME). The spine is reported to be involved in over 50% of cases, but few of these patients are symptomatic as the result of an existing spinal exostosis.
Methods
We reviewed the current literature in order to find the right approach to...
Contexts in source publication
Context 1
... examination revealed a stable residual right hemiparesis, recurrent intermittent anisocoria, exaggerated reflexes, and clonus on the right side. Cervical magnetic resonance imaging (MRI) follow-up studies showed no recurrence of the lesion. The last MRI at age 19 years demonstrated an attenuated upper cervical cord with associated myelomalacia ( Fig. ...
Context 2
... examination revealed a stable residual right hemiparesis, recurrent intermittent anisocoria, exaggerated reflexes, and clonus on the right side. Cervical magnetic resonance imaging (MRI) follow-up studies showed no recurrence of the lesion. The last MRI at age 19 years demonstrated an attenuated upper cervical cord with associated myelomalacia ( Fig. ...
Similar publications
Background:Osteochondromas are the most common form of benign bone tumour. They are mostly asymptomatic, but sometimes they can irritate surrounding structures, like vessels or nerves, and cause complications. More often they apply to the lower extremities, especially around the knee joint. Osteochondromas which cause complications in the upper ext...
Citations
... Spinal osteochondromas are relatively rare, with an incidence rate of 1%-4%. 9,12,16 Among these, those with neurological symptoms account for .5%-1%. 19,20 Of spinal osteochondromas, nearly half of the patients occur in the cervical spine (C2>C3>C6). ...
Objective
Spinal osteochondromas are rare, and approximately less than 5% occur as spinal lesions. We report the case of a solitary osteochondroma of the spine and review and update the literature on spinal osteochondroma, including surgical treatment and subsequent results.
Case Description
A 73-year-old female patient complained of a 10-year history of back pain and a 4-year history of right-side lower extremity radiating pain with paresthesia. Computed tomography and magnetic resonance imaging (MRI) revealed a bony mass arising from the inferior articular process (IAP) of L3, presenting with features of compressive spinal stenosis at the L3–L4 level. The treatment strategy included the complete marginal excision of the lesion through the posterior approach, as well as complete decompression of the spinal canal and nerve roots. The patient’s symptoms resolved after surgery, and histopathological examination identified the lesion as an osteochondroma.
Review Results
This review study included 168 solitary osteochondroma cases. The most commonly involved spinal level was cervical (51.8%), and the most frequent spinal anatomic column involved was the posterior column (70.8%). Radiculopathy accounted for 30.3% of all cases, myelopathy accounted for 31.0%, and 7.7% exhibited both symptoms simultaneously. The recurrence rate was 6.0%.
Conclusion
Computed tomography and MRI can effectively diagnose spinal osteochondroma, and surgical treatment can effectively improve clinical outcomes. In almost all symptomatic cases, the best treatment is marginal excision of the tumor. Complete resection of the cartilaginous cap of the tumor is especially important to prevent recurrence.
... A careful routine clinical examination within patients with HME looking for neurological symptoms is a mandatory screening tool, in order to diagnose early spinal localizations that may induce neurologic impairment [18]. MRI is the gold standard for detecting spinal cord or roots compression, but CT scan allows a more accurate study for compressing bony elements. ...
Introduction and importance
Hereditary multiple exostoses (HME) is a benign disease, usually encountered in the metaphysis of long bones. On the opposite, spinal localizations are very rare. We herein describe a case of HME with a spinal cord compression.
Case presentation
A 31-years-old patient with a history of HME, presented with signs of cervical spinal cord compression that progressively appeared in the last 10 years. Cervical MRI and CT scan showed a compressive osseous tumor arising from the surface of the right side of the dorsal arch of the axis. Our patient underwent C1C2 laminectomy, but no clinical improvement has been recorded postoperatively.
Clinical discussion
Spinal cord compression is an extremely serious complication of hereditary multiple exostoses (HME). The cervical and thoracic areas were predominantly affected, with the symptoms usually developing slowly. Early surgery is correlated to good postoperative outcomes.
Conclusion
Despite its rarity, HME should be considered as a possible cause for spinal cord compression.
... Cases of HME with vertebral lesions have commonly been reported between 1 and 9% [5,27], however more recently some reports have reported incidences of 23% [27], 38% [28] and 68% [2,27]. Whilst some of these studies may be overestimating due to selection bias it is clear that examining all HME cases for vertebral lesions, and not just symptomatic cases, leads to higher reporting of incidence rates. ...
... Cases of HME with vertebral lesions have commonly been reported between 1 and 9% [5,27], however more recently some reports have reported incidences of 23% [27], 38% [28] and 68% [2,27]. Whilst some of these studies may be overestimating due to selection bias it is clear that examining all HME cases for vertebral lesions, and not just symptomatic cases, leads to higher reporting of incidence rates. ...
... Cases of HME with vertebral lesions have commonly been reported between 1 and 9% [5,27], however more recently some reports have reported incidences of 23% [27], 38% [28] and 68% [2,27]. Whilst some of these studies may be overestimating due to selection bias it is clear that examining all HME cases for vertebral lesions, and not just symptomatic cases, leads to higher reporting of incidence rates. ...
Background
Hereditary multiple exostoses (HME) is a rare skeletal disorder characterised by a widespread.
distribution of osteochondromas originating from the metaphyses of long bones.
Case presentation
This case study examines a 55-year-old male cadaver bequeathed to the University of Liverpool who suffered from HME, thus providing an exceptionally rare opportunity to examine the anatomical changes associated with this condition.
Conclusions
Findings from imaging and dissection indicated that this was a severe case of HME in terms of the quantity and distribution of the osteochondromas and the number of synostoses present. In addition, the existence of enchondromas and the appearance of gaps within the trabeculae of affected bones make this a remarkable case. This study provides a comprehensive overview of the morbidity of the disease as well as adding to the growing evidence that diseases concerning benign cartilaginous tumours may be part of a spectrum rather than distinct entities.
Hereditary multiple exostoses (HME), also known as hereditary multiple osteochondroma (HMO), is an autosomal dominant disorder caused by pathogenic variants in exostosin‐1 or ‐2 (EXT1 or EXT2). It is characterized by the formation of multiple benign growing osteochondromas (exostoses) that most commonly affect the long bones; however, it may also occur throughout the body. Although many of these lesions are clinically asymptomatic, some can lead to chronic pain and skeletal deformities and interfere with adjacent neurovascular structures. Here, we report two unrelated probands that presented with a clinical and molecular diagnosis of HME with venous malformation, a clinical feature not previously reported in individuals with HME.
Résumé
Introduction
Les ostéochondromes rachidiens sont des lésions bénignes rares dont les manifestations cliniques sont tardives et liées à la croissance lente de ces tumeurs et à leurs localisations. Les caractéristiques de ces ostéochondromes rachidiens ainsi que leurs spécificités diagnostiques et thérapeutiques demeurent peu étudiées chez l’enfant.
Hypothèse
Le traitement chirurgical des ostéochondromes rachidiens de l’enfant ne montre pas de complication ou de récidive.
Matériels et méthodes
Tous les enfants opérés consécutivement d’une exostose rachidienne entre 2010 et 2018 ont été inclus parmi 8 centres universitaires. L’étiologie, les manifestations cliniques, le siège et la localisation de ces lésions ont été décrites et les résultats chirurgicaux ont été analysés au recul minimal de 2 ans.
Résultats
Vingt-deux patients ont été opérés de 26 exostoses rachidiennes à l’âge moyen de 12,8 ± 2,6 ans. Sept patients avaient une exostose solitaire (ES groupe 1) et 15 présentaient une maladie des exostoses multiples (MEM groupe 2). Des signes cliniques étaient présents au moment du diagnostic dans 72 % des cas (douleurs rachidiennes [n = 4], tuméfactions [n = 5] et signes neurologiques [n = 3]) mais le diagnostic était fortuit dans 27 % des MEM lors d’un dépistage systématique de formes intracanalaires. La localisation était cervicale dans la majorité des cas (n = 13), sans différence entre les 2 groupes (p = 0,9). Le siège le plus fréquent était lamaire mais 54 % des localisations étaient intracanalaires (92 % groupe 2). Au recul moyen de 5,2 ± 4,4 ans, aucun patient ne présentait de récidive ou de complications liées à la maladie ou au traitement.
Discussion
Le traitement chirurgical des ostéochondromes rachidiens de l’enfant est efficace, sans récidive à moyen terme. Nos résultats confirment également la faible morbidité périopératoire, même dans les formes intracanalaires, et l’absence de retentissement au recul sur l’alignement rachidien. La récupération était complète pour tous les patients avec des signes neurologiques initiaux.
Niveau de preuve
IV ; série rétrospective de cas.
Background: Spinal osteochondroma (or exostosis) is a rare benign tumour whose clinical manifestations are delayed due to their slow growth and location. Few studies have addressed the characteristics and the diagnostic and therapeutic peculiarities of spinal osteochondroma in children. The objective of this multicentre observational study was to assess the outcomes of a cohort of children after surgery for spinal osteochondroma.
Hypothesis: Surgical excision of spinal osteochondroma in children is not followed by complications or recurrences.
Material and Methods: We included consecutive children who had surgery between 2010 and 2018 at any of eight participating centres to remove spinal osteochondromas. The cause, clinical manifestations, and location of the lesions were collected. The surgical outcomes were evaluated after at least 2 years’ follow-up.
Results: We identified 22 patients who had surgery to remove 26 spinal osteochondromas at a mean age of 12.8±2.6 years. Among them, 7 had a solitary osteochondroma (SO group) and 15 had hereditary multiple osteochondromas (HMO group). At diagnosis, 72% of patients had clinical signs (spinal pain, n=4; one or more lumps, n=5; and neurological manifestations, n=3). In the HMO group, the diagnosis was made during routine MRI screening for tumours involving the spinal canal. Most osteochondromas involved the cervical spine (n=13), with no difference between the two groups (p=0.9). The lamina was the most common location but 54% of the tumours were growing within the canal (92% in the HMO group). After a mean follow-up of 5.2±4.4 years, no patients had experienced any recurrences or complications related to the disease or treatment.
Discussion: Surgical excision of spinal osteochondromas in children is effective, with no medium-term recurrences. Our results also confirm the low peri-operative morbidity, even when the canal is involved, and the absence of any effect at last follow-up on spinal alignment. All patients with neurological manifestations at diagnosis made a full recovery.
Level of evidence: IV, retrospective observational cohort study
Solitary osteochondromas are common, benign hyaline cartilage-capped exostoses that primarily arise from the metaphyses of long and flat bones. Diaphyseal aclasis is an autosomal dominant condition resulting from EXT1 or EXT2 gene mutations and is characterized by multifocal osteochondromas. These can result in a wide spectrum of complications, such as skeletal deformity, neurological and vascular complications, adventitial bursa formation, fracture, and rarely malignant transformation to peripheral chondrosarcoma. In this review, we outline in detail the multimodality imaging features of DA and its associated complications.
