Desmoplastic Infantile Ganglioglioma with Late Presentation

Abstract

Desmoplastic infantile ganglioglioma (DIG) is a rare supratentorial tumor in the central nervous system. Definitive diagnosis of this neoplasm is based on histopathologic analysis evaluating distinctive findings such as the fibroblastic differentiation. Here we present a clinical case of DIG with a long follow-up in an eight-year-old boy with a six-month history of recurrent emesis, psychomotor hyperactivity and generalized tonic-clonic seizures. Computed tomography scan and magnetic resonance imaging (MRI) showed a cystic, heterogeneous, mass on the right temporal uncus. A histopathological diagnosis of late presentation DIG was made. We documented the immunohistochemical expression of a molecular soft tissue / muscle differentiation marker (h-CaD) in addition to a low proliferative index (Ki-67) in this case. After surgical intervention, a control MRI showed changes of right frontal-temporal craniotomy and a persistent mass in the anterior and medial temporal lobe with basal extension. Further surgical intervention was performed, completely removing the tumor, which had the same characteristics. The patient is asymptomatic while receiving anticonvulsant therapy (phenytoin) with no evidence of tumor recurrence on MRI after a follow-up of five years. The low grade and soft tissue appearance in images are correlated with the histopathologic and immunohistochemical profile of this tumor, but the rarity of this tumor makes a presumptive diagnosis by images a challenge. The above-mentioned molecular markers or new ones could be used as molecular targets for molecular imaging studies to increase the probability of a pre-operative diagnosis based on molecular features through images.