ABSTRACT
INTRODUCTION AND IMPORTANCE: Hemangioblastomas are benign vascular neoplasms which originate almost exclusively from central nervous system (CNS). They account for 2 % of all intracranial neoplasms, 7 %-12 % of posterior fossa tumours. 60-75 % cases of hemangioblastomas occur sporadically and rest 25 % to 40 % occur in genetically inherited in the autosomal dominant neoplasia syndrome known as Von Hippel-Lindau (VHL) disease with mutation occurring on chromosome 3p. CASE PRESENTATION: We, hereby, report a case of one such rare case of a 30-year old male who presented to us with the complaint of holocranial headache for past 2 months associated with vomiting along with bilateral cerebellar signs and symptoms. MRI Brain revealed multiple cysts with enhancing mural nodules present on both cerebellar hemispheres. Due to recurrence and multi-focality of lesions, VHL syndrome was suspected. CLINICAL DISCUSSION: VHL is a rare autosomal dominant disease. MRI is the gold standard test. It demonstrates specific appearances depending on the tumour anatomy. Hemangioblastoma of the CNS in VHL usually develop from childhood at an age of <10 years or early teen until the age of 30 years. The most common locations for hemangioblastomas in VHL are cerebellum and spinal cord as seen in our patient. CONCLUSION: VHL being a lifelong disease with no cure till date, the patients should be frequently screened for lesions at various potential sites in his/her lifetime so as to provide required intervention at the earliest. Hence, a genetic screening for VHL (VHL tumour suppressor gene), should be performed in cases of hemangioblastoma.
ABSTRACT
BACKGROUND: According to World Health Organization (WHO) classification of tumors, malignant peripheral nerve sheath tumors (MPNST) encompass the tumors, which were previously termed as malignant schwannoma, neurogenic sarcoma, and neurofibrosarcoma. These are rare tumors constituting only 5% of all malignant soft tissue tumors. As per their name, they arise from the malignant proliferation of cells forming sheath of a nerve root. They cause spinal cord compression, secondary changes in the surrounding bone with variable amount of tumor tissue going into the paraspinal space. However, purely intraosseous origin of the MPNST with no visible connection with a nerve root or dura is rare and few cases have been described in the literature. CASE DESCRIPTION: We present a primary intraosseous MPNST arising from the body of a thoracic spine with a minimal intraspinal component. However, there was a huge tumor part occupying the paraspinal and retrospinal region. The latter component was so large that it extended to lie just beneath the skin. The intraspinal component was confined to only one level. The giant extraspinal part was spanning multiple corresponding spinal level. We could not find such presentation in the literature. CONCLUSION: Gross total removal (GTR) followed by adjuvant chemo-radiotherapy is the optimal treatment for MPNST of spine. In case of multiple laminectomy or gross spinal instability, spinal instrumentation makes the treatment protocol complete.
