Abstract
Background:Two patients who had received a total resection of cerebellar hemangioblastoma developed cerebrospinal fluid dissemination during a long-term follow-up period. We present this rare disease with discussion based on the literature.Case Description:The patients were two women aged 45 and 57 years. In the cerebellar hemisphere, one patient had cystic hemangioblastoma of mural nodule type and the other had solid type. Both the patients successfully underwent total resection by craniotomy. They presented no mutations in the von Hippel-Lindau disease (VHL) gene or lesions in the other organs. One patient developed local recurrence 38 months after the initial surgery, and received stereotactic radiosurgery. Three spinal cord tumors developed 91 months later, and the tumors were disseminated to the entire cerebrospinal cavity 107 months later. The other patient developed hydrocephalus 53 months after the initial surgery with tumor tissues disseminated in the intracranial subarachnoid space. The conditions of the two patients gradually aggravated despite treatment with ventriculo-peritoneal shunt and irradiation to the whole brain and whole spinal cord.Conclusion:Cerebrospinal fluid dissemination of cerebellar hemangioblastoma was found dominantly in non-VHL patients. The diagnosis was made 10 years after the initial surgery. Irradiation therapy was performed, but the patients died about 2 years after the diagnosis was given. Molecular targeted therapies including vascular proliferation suppression have been attempted lately, but no effective therapy has been established. Early diagnosis of dissemination as well as combination of aggressive excision and stereotactic radiosurgery are considered to be appropriate for current interventions.
Highlights
Two patients who had received a total resection of cerebellar hemangioblastoma developed cerebrospinal fluid dissemination during a long‐term follow‐up period
We report our experience of cerebrospinal fluid dissemination in two patients who underwent total resection of cerebellar hemangioblastoma that was assessed as sporadic, non‐von Hippel-Lindau disease (VHL) type to account for 62-75% of hemangioblastomas by the direct sequence of genomic deoxyribonucleic acid (DNA).[4,14]
The guidelines for the diagnosis and treatment of VHL were published in Japan in 2011.[13]. This guideline indicate the incidence of development of hemangioblastoma in cerebellum is 44-72%, in brain stem is 10-25%, and in spinal cord is 13-50% of the VHL patients.[13]
Summary
Cerebrospinal fluid dissemination of cerebellar hemangioblastoma was found dominantly in non‐VHL patients. A 57‐year‐old female whose mother had multiple renal cysts had a medical history including a diagnosis of a renal cyst and surgery of coxarthrosis She visited our hospital with complaints of photophobia and unstable gait. Total resection of the brain tumor by craniotomy was performed, and a pathological diagnosis of hemangioblastoma was made [Figure 2c, d]. Histological VHL analysis showed a mutation from CAA to TAA at exon 2 and codon 132 She visited the hospital 53 months later due to brain contusion from a fall. Head CT and MRI showed no tumor recurrence at the site of the initial surgery, but diffuse disseminated foci were observed in the subarachnoid space, accompanied by hydrocephalus [Figure 2e, f]. The disseminated foci gradually proliferated during the 90 months after the initial surgery, and the patient remains bedridden due to quadriplegia [Figure 2i, j]
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