Rare Diseases and Orphan Drugs

Biography

Biography: Maris C. Dalagan

Abstract

Congenital central nervous system tumors are a unique group of neoplasms, not only due to the onset time, but also due to the histopathology, anatomic location and biologic behavior. Treatment involves a combination of gross total resection of the tumor, chemotherapy, and radiotherapy, but ultimately is incurable. Congenital Glioblastoma multiforme is one of the rare highly aggressive brain tumors and there have been evidence that this may have a better prognosis with improved survival compared to GBM in older children. Patients usually presents with large tumors with associated hemorrhage due to its high vascularity and hydrocephalus due to ventricular obstruction. Here we have a case of a 1 month old female who presented with an increasing size of the head. Cranial MRI and MRA showed a large right cerebral parenchymal mass. Right hemicrainectomy and debulking of 60% of the mass was done. Histopathology reports confirmed a stage 4 glioblastoma multiforme. Since then, patient has been in remission, with regular oral chemotherapy and physical therapy. Although with prominent developmental delay,  patient has  been noted to have good prognosis with multimodal therapy. There have been a reported case of a congenital GBM with spontaneous resolution and remained in remission with survival rates of up to 5 years. However, quality of life is still affected since most patients develop severe developmental delay and seizures This case suggested congenital GBM may be a separate biological entity much like neuroblastomas in infants, and therefore associated with better outcomes and even spontaneous resolution.