Cerebellar hemangioblastoma associated with diffuse neonatal hemangiomatosis in an infant.
ABSTRACT Hemangioblastomas (HBLs) comprise approximately 2 % of all primary central nervous system (CNS) tumors. Although histological features of this rare tumor are generally benign, its outcome is often unfavorable due to high risk of recurrence and multifocal localization. HBLs can be detected as sporadic or associated with Von Hippel-Lindau disease. Diffuse neonatal hemangiomatosis (DNH) presents with multiple, progressive, rapidly growing cutaneous hemangiomas associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. DNH with predominant CNS involvement is rarely reported. Herein, we present a neonatal case of cerebellar HBL associated with DNH.
A 5-day-old male baby was referred with complaints of multiple cutaneous lesions. Purple papules were noted on the trunk, extremities, and the head. Thoracic magnetic resonance imaging demonstrated multiple hyperintense lesions on the chest wall and apex of the right lung. On MRI, a 3 × 2-cm mass lesion in the right cerebellar hemisphere was detected. Total resection of the mass and ventriculoperitoneal shunting was performed. Histopathologic examination confirmed the diagnosis of HBL. Steroid therapy was administered for disseminated hemangiomatosis, and the lesions showed regression; the patient showed good clinical recovery. The parents refused further treatment, and he was out of our control when he was 9 months old.
According to our knowledge, the presented newborn is the second case of cerebellar HBL associated with diffuse skin and visceral hemangiomas in the English medical literature. Clinicians must be vigilant about the predictive value of visceral and/or cutaneous hemangioma for an associated intracranial HBL.
- American Journal of Neuroradiology 13(5):1343-52. · 3.17 Impact Factor
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ABSTRACT: The authors describe the case of a patient with von Hippel-Lindau (VHL) disease in which a spinal hemangioblastoma contained metastatic renal cell carcinoma (RCC). The literature on tumor-to-tumor metastasis associated with VHL disease of the central nervous system (CNS) is reviewed. Midthoracic back pain developed in this 43-year-old man with a left-sided radicular component 2 years after he underwent resection of a left RCC. Radiological findings demonstrated a T6-7 intradural intramedullary lesion. A T5-8 laminectomy and gross-total resection of the spinal cord mass were performed. Light and electron microscopic examination showed features of hemangioblastoma, which contained metastatic foci of RCC. Genetic analysis demonstrated the presence of a deleting mutation in the first exon (nt. 394-406) of the VHL locus, truncating 16 amino acids (N61-77) from the first beta sheet in the VHL protein. A review of the literature revealed that RCC-to-CNS hemangioblastoma is the second most common donor-recipient tumor association among the tumor-to-tumor metastases.Journal of Neurosurgery Spine 01/2006; 3(6):495-500. · 1.98 Impact Factor
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ABSTRACT: Central nervous system hemangioblastoma is a histologically benign tumor that usually occurs in the cerebellum. Supratentorial hemangioblastomas are exceedingly rare tumors. We present a case of cerebral hemangioblastoma, review the literature on supratentorial hemangioblastoma, and discuss the histologic characteristics and diagnostic difficulties associated with such lesions.Archives of pathology & laboratory medicine 10/2003; 127(9):e382-4. · 2.78 Impact Factor