CHILDHOOD CENTRAL NERVOUS SYSTEM ATYPICAL TERATOID RHABDOID TUMOUR - CASE REPORT OF AN AGGRESSIVE RARE ENTITY
Atypical teratoid rhabdoid tumour of the CNS, is an uncommon rapidly growing, clinically aggressive WHO grade IV tumour constituting 3% of paediatric CNS cancer.
An eleven year old girl presented to OPD for vomiting and headache for a period of 2 months along with intermittent tonic posturing and episodes of febrile seizures. Anterior 3rd ventricular lesion was detected on MRI for which she underwent craniotomy. HPE revealed poorly differentiated tumour cells with rhabdoid morphology. Polyphenotypic expression on IHC favours WHO grade IV embryonal ATRT with retained INI-1 expression. Postoperatively treated for subdural hygroma and pseudomeningocoele. Further she underwent radiation therapy and developed neurological worsening and became bed bound. Patient currently given palliative care.
1)Choroid plexus carcinoma, WHO grade III
2) Rhabdoid meningioma, WHO grade III
3) Embryonal ATRT, WHO grade IV (with retained INI-1 expression)
In 1987, Rorke et al first described this entity having a predilection for posterior fossa. Till recently it was classed as medulloblastoma. Radiology and clinical presentation are pointers to the diagnosis; histopathology being gold standard.
ATRT is a rare childhood CNS tumour with a grave prognosis. Polyphenotypic expression on IHC confirms the diagnosis. INI-1 expression can be retained in a 5% subset of ATRTs. Currently no standard treatment is available, but intensive multimodality regimen improves the prognosis and patient survival.
IMPLICATION FOR CLINICAL PRACTICE : Acute neurological symptoms without infection could be an indication of an aggressive neurological malignancy such as Atypical Teratoid Rhabdoid Tumour.