P2.230: Desmoplastic Infantile Astrocytoma in a Newborn: A Case Report

Introduction: Congenital brain tumors, which are typically diagnosed within the first 2 months of life, account for only 0.5–1.5% of all childhood brain tumors. Desmoplastic infantile astrocytoma (DIA) is a rare intracranial mass that typically occurs in the first 2 years of life. It is characterized by rapid growth but has a benign nature, with a favorable clinical course following total resection of the tumor.

Case Description: We present the case of a term male infant born via C-section due to prenatally diagnosed left temporal lobe mass with surrounded edema (figure 1). Brain MRI done at 4 hours of life revealed a complex, large cystic and solid mass involving the left cerebrum (both intra-axial and extra-axial); with associated mass effect and 8 mm midline shift (figure 2). On day of life 3, the infant was brought to the OR for craniotomy with tumor resection. His postoperative course was complicated by hypovolemic shock due to significant intraoperative bleeding, ventriculomegaly with intraventricular hemorrhage, left middle cerebral artery stroke and clinical seizures requiring multiple antiepileptic drugs. Pathology revealed a low grade neuroepithelial neoplasm, favoring DIA, classified by the World Health Organization as an astrocytoma grade 1. Patient was discharged home at 1 month of age and was stable at outpatient follow-up, achieving developmental milestones, tolerating room air and feeding completely by mouth.

Discussion: Perinatally diagnosed astrocytomas are the second most common type of brain tumor, usually occur above the tentorium, occupying more than one lobe and cause displacement of the lateral ventricles. They often present with non-specific symptoms associated with mass-occupying lesion such as macrocephaly, hypotonia, seizures, irritability and regression of developmental milestones, but more rarely can be found during routine prenatal ultrasound.
Characteristic histologic findings of DIA are hypercellular, spindle cell tumor with prominent collagenous stroma and enlarged, pleomorphic nucleoli with moderate to abundant eosinophilic cytoplasm. Imaging often shows a large supratentorial tumor with rapid growth composed of mixed structures including solid portions with large cysts. Calcifications and bone deformities are rare.
In general, the prognosis for DIA is good, provided that complete resection is achieved. Surgical treatment is complicated by the size and location of the tumor, as well as its hypervascularity, which increases the risk of blood loss, as seen in our patient. Adjuvant therapy with radiotherapy or chemotherapy is rarely needed and is associated with subtotal resection of tumor. Relapse or tumor regrowth has been reported, so surveillance with brain imaging is necessary as often as every 3 months.

Conclusion: DIAs are a rare entity that should be suspected when mixed solid and cystic brain masses are found on perinatal imaging. While management is complex, with surgical intervention patients typically have a good prognosis and favorable neurological and developmental outcomes.