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|Year : 2020 | Volume
| Issue : 6 | Page : 1447-1449
Familial Giant Enchondroma of Thoracic Spine: A Rare Manifestation of a Rare Disease
Saswat K Dandpat1, Abhidha Shah1, Dikpal Jadhav1, Naina Goel2, Atul Goel1
1 Department of Neurosurgery, Seth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India
2 Department of Neuropathology, Seth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India
|Date of Web Publication||19-Dec-2020|
Dr. Abhidha Shah
Department of Neurosurgery, Seth G S Medical College and KEM Hospital, Mumbai, Maharashtra
Source of Support: None, Conflict of Interest: None
We present a rare case of spinal enchondromatosis in a 15-year-old boy. The patient presented with spastic paraparesis. He also had multiple bony swellings over the long bones. On inquiry it was found that his father had enchondromatosis. Such a familial form of enchondromatosis has not been previously described in the literature.
Keywords: Enchondroma, familial, thoracic spine
Key Messages: Familial enchondromatosis is extremely rare with variable genetic penetrance. We report a unique case of symptomatic giant thoracic enchondroma in a case of familial enchondromatosis.
|How to cite this article:|
Dandpat SK, Shah A, Jadhav D, Goel N, Goel A. Familial Giant Enchondroma of Thoracic Spine: A Rare Manifestation of a Rare Disease. Neurol India 2020;68:1447-9
Chondromas are benign cartilaginous intraosseous tumors that develop in proximity to the growth endplate in long or small tubular bones of the body. They are classified on the basis of origin from either the intramedullary cavity when it is called enchondroma or from the periosteum of the bone when it is called osteochondroma. Spinal enchondromas are relatively rare and only isolated reports are available in the literature., They have a predilection for posterior elements of the vertebrae of the cervical spine followed by the thoracic spine. The occurrence of multiple enchondromas is known as enchondromatosis. Ollier disease is a sporadic form of enchondromatosis. Familial enchondromatosis is extremely rare and doesn't follow the Mendelian law of inheritance. We describe a case of giant thoracic enchondroma in a patient with familial enchondromatosis. Our literature survey did not locate any report of such a combination of abnormalities.
| » Case|| |
A 15-year-old boy presented with progressive spastic paraparesis for about 6 months. On examination, he had grade-4 spastic paraparesis. All sensations were diminished below the D5 dermatome. He had multiple asymmetrical bony tumors at the metaphyseal and epiphyseal ends of long bones. There was no deformity of the limbs or spine. His father also had multiple bony tumors over his multiple long bones with shortening and inward bending of bilateral forearms. However, he had no neurological symptoms or any spinal tumors. The father of the patient was married to his first cousin. Gadolinium-enhanced MRI [Figure 1]a of the spine revealed a patchy enhancing expansile lytic mass lesion (40 Õ 37.7 Õ 53 mm) involving posterior elements of D5 vertebrae and left costotransverse joint. The lesion extended into lateral epidural space compressing and displacing the cord. CT scan [Figure 1]b showed extensive bony destruction of the posterior elements of D5 and left facet joint. The patient was operated by a posterior approach. A D5 laminectomy was performed. The extradural tumor was relatively avascular, firm, gritty, and lobulated and was removed essentially en-masse. [Figure 2] Histology showed perichondrium with an underlying hyaline cartilage cap. Focally the cartilage showed multiple lacunae containing myxoid matrix and microcystic areas. Underlying the hyaline cartilage there were bony trabeculae with the interface of enchondral ossification. [Figure 3] The histological features were characteristic of enchondroma. As only one-half of the posterior elements of the thoracic vertebra were involved and intraoperative observation suggested a stable spine, no spinal instrumentation was deemed necessary. The patient rapidly improved in his symptoms. At a follow-up of 23 months, he was ambulatory and back to his routine life. Postoperative CT and MRI of the dorsal spine [Figure 4] performed after 6 months of surgery revealed no evidence of tumor.
|Figure 1: Preoperative images. (a) Contrast-enhanced MRI sagittal section shows heterogeneous lesion compressing the spinal cord at the D5 vertebrae level. (b) Contrast-enhanced MRI scan shows a lesion involving the left portion of the body, posterior elements of D5 vertebrae with heterogeneous enhancement on contrast. The lesion is compressing and displacing the spinal cord to the right side. (c) Plain CT scan shows the destructive, lytic lesion in the left part of the body and posterior elements of D5 vertebrae|
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|Figure 2: Histology image showing perichondrium with hyaline cartilage cap and extensive myxoid matrix. Underlying the cartilage there is enchondral ossification with trabecular bone formation|
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|Figure 3: Image of the resected specimen showing both bony and cartilaginous components|
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|Figure 4: (a) Postoperative MRI shows no residue or recurrence. (b) Postoperative plain CT scan showing total excision of tumor|
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| » Discussion|| |
Enchondromatosis is a rare disease with a varied spectrum of manifestations. Various classifications have been proposed for this entity., However, due to the rarity of the disease, it is difficult to find a classification system that fits all the tumors., The most common type of enchondromatosis is sporadic. In 1889, Ollier described for the first time an asymmetric and random pattern of distribution of enchondromas. Olliers disease is the most common form of nonfamilial enchondromatosis.
The familial type of enchondromatosis can be autosomal recessive or dominant. Our literature search identified three case reports of familial generalized enchondromatosis.,, However, any of the aforementioned reports did not have any involvement of vertebrae. In our case, the father had multiple enchondromas of long bones with shortening of both hands, short stature without any vertebral involvement. The son had multiple enchondromas of the long bones without any limb deformity and a giant thoracic spinal enchondroma. As the patient's parents were first cousins, autosomal recessive trait or variable expression of autosomal dominant transmission is a likely possibility. Our literature survey did not locate a report of any such case.
The underlying genetic signature of familial enchondromatosis is largely unknown due to the rarity of these cases. Coupling signaling between parathyroid hormone-related protein and Indian Hedgehog on their respective receptors i.e. parathyroid hormone receptor and protein patched homolog 1 regulates endochondral ossification. Abnormality of this pathway is believed to be the cause of enchondromatosis. Mutation of EXT1 (exostocin) and EXT2 (exostocin) genes has been observed in familial enchondromatosis which leads to disturbed hedgehog signaling and synthesis of heparan sulfate., Isocitrate dehydrogenase1/isocitrate dehydrogenase 2/2-hyrdoxyglutaric acid metabolic pathway disequilibrium has also been held responsible for its pathogenesis. Recent advancement of genetics and molecular biology has given us many genetic markers of the disease but none of these pathways completely explain its inconsistent phenotypical manifestations.
Histologically, enchondromas are composed of neoplastic chondrocytes dispersed in abundant hyaline or myxoid background. Foci of calcifications may be found in the lacunae. Cortical erosion, an extension of the tumor into soft tissues, and irregularity or indistinctness of the surface of the tumor foretell malignant transformation. Enchondromas tend to be well-circumscribed, whereas chondrosarcomas show poor demarcation. Enchondromas tend to show a uniform pattern of mineralization. The presence of unmineralized parts in the lesion should raise the suspicion of chondrosarcomas.,
T1-weighted MRI often demonstrates a hypointense lesion which is hyperintense on T2-weighted images. MRI after gadolinium administration reveals rim enhancement or heterogeneous enhancement. Radionuclide bone scanning (technetium-99m) is typically negative in uncomplicated enchondromas, but the presence of pathologic fracture can result in intense activity at the fracture site. In patients with multiple enchondromas or patients in whom an enchondroma is actively calcifying, radionuclide bone scans may show increased activity, but the activity is typically less intense than that of intramedullary chondrosarcomas. Positron emission tomography using 18-fluorodeoxyglucose may be helpful in distinguishing enchondromas from low-grade chondrosarcomas.,
Surgery for spinal enchondroma is recommended when the lesion results in neurological symptoms. Recurrence of solitary enchondroma is less than 10% after surgery and is usually due to incomplete removal. The recurrence rate after excision of tumor in familial cases is not yet known. In our case, after 23 months of follow-up, the patient was asymptomatic without any evidence of recurrence.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]