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Atypical Rhabdoid Teratoid Tumour and Localized Lymphedema in an Infant

Tugba Kevser Ustunbas Uzuncakmak, Ayse Serap Karadag, Fugen Aker, Ebru Zemheri and Necmettin Akdeniz

Lymphedema is a chronic progressive and multifactorial disorder of lymphatic vessels which is characterised by the regional accumulation of excessive amounts of protein-rich fluid in intersititial space. It may be primary as obstruction of lymphatic drainage due to genetic structural deformity of lymphatic vessels or secondary to infections, surgery, venous insufficiency, trauma and malignancy. Clinical manifestation may vary according to the underlying etiology and duration of pathogenesis.

We want to present a 2 month-old caucasian boy with a pink, slowly growing flaccid, protruding tumoral lesion on his neck that exists since birth. Punch biopsy specimen was consistent with lymphedema. Two weeks after the diagnosis he was taken to emergency service with a sudden onset nausea, vomiting and loss of consciousness, cranial computed tomography performed him and a 5x4 cm in diameter, heterogenous tumor was detected in posterior fossa. Because of accompanying symptoms of hydrocephalus, patient received an urgent operation. Excisional biopsy of the tumour was consistent with stage 4 atypical rhabdoid/teratoid tumor. Unfortunately patient was lost on postoperative day 0.

Atypical rhabdoid/teratoid tumour is a rare and highly aggressive tumour of central nervous system that is usually seen in infancy and early childhood. In our patient neck localized lymphedema was probably associated with cerebellar atypical rhabdoid/teratoid tumor. To our knowledge this is the first case report in the literature.