A case report of desmoplastic infantile astrocytoma/ganglioglioma in an infant: the gentle giant

Brain tumours are the most frequent solid tumours and the first cause of cancer-related death in childhood. Their diagnosis has been increasing due to the improvement of diagnostic tools. Low-grade gliomas and embryonal tumours are the most frequent (50% and 20%, respectively). A 10-month-old male presented with hyporeactivity, drowsiness, right arm hypomobility and inappetence. Hospitalised, his Fundus Oculi which showed papilla with regular margins, lightly congested and raised. EEG revealed slow track and specific activity in the back left temporal region. Gadolinium-MRI of the brain revealed a cystic tumour of 7 × 9×12 cm, with intense and heterogeneous enhancement that involved the left cerebral hemisphere. The mass compressed the left and third ventricle and the brainstem was shifted beyond the median line. The right ventricle was expanded and there was sweating of cerebrospinal fluid for the Monro’s foramen obstruction. The patient underwent complete exeresis of tumour. Histology confirmed diagnosis of Desmoplastic Infantile Astrocytoma/Ganglioglioma (DIA/DIG), grade I WHO. Immunophenotype: astrocytic (GFAP, Vimentin), neuronal (synaptophysin). MIB-1: 5%. After hospitalisation, the patient started rehabilitation with a gradual recovery of motor functions. Actually at 30 months of follow up the patient is free of disease and healthy. DIA/DIG is a rare paediatric brain tumour (1.25% of brain tumours), characterised by divergent glioneuronal differentiation and intense desmoplasia. Superficial in location and affecting mainly the frontotemporal region, it presents as a large, cystic, often dura-attached mass in patients younger than 2 years of age. On MRI, they are large hypodense cystic masses with a solid isodense or slightly hyperdense superficial portion. The histologic diagnosis is characterised by the presence of astrocytic, neuronal, and primitive neuroectodermal markers. The treatment of choice is radical surgical excision, which does not require additional treatment. Post-operative clinical and MRI controls should be used when only partial tumour removal can be performed; indeed, long-term stability or complete disappearance of the tumour residual may follow even an incomplete surgical tumour removal. Chemotherapy is used in partial exeresis and progressive disease; radiotherapy is a last resource. DIA/DIG diagnosis is crucial as they share some neuroradiological and histological findings of malignant brain tumours.