A Rare Case of Congenital Rhabdomyosarcoma with Review of the Literature

We present a rare case of rhabdomyosarcoma of lip in a neonate with multiple lesions within the head and necksub site hitherto unreported in the medical literature. This case report also reviews the scant medical literature on neonatal rhabdomyosarcoma. 1. Introduction Rhabdomyosarcoma (RMS) is a malignant soft tissue neoplasm of the skeletal muscle origin. The tumour accounts for 4–8% of all malignancies in children of less than 15 years of age [1]. It has a bimodal peak incidence, the first occurring at the age of 2–6 years and the other occurring at adolescence [2]. RMS also has a strong male preponderance. Though congenital RMS has been reported in the medical literature, it is extremely rare [1, 3]. With this background, we present a case of neonatal rhabdomyosarcoma with unusual clinical presentation. 2. Case Report An 11-day-old neonate presented to the “Paediatric Otorhinolaryngology OPD” of our Kalawati Saran Paediatric Hospital, attached to Lady Hardinge Medical College, New Delhi, India, a tertiary care university teaching hospital with a swelling in the upper lip since birth and complaint of difficulty in suckling. In general the baby was irritable and always crying. A large ovoid swelling was seen in the upper lip and adjoining part of upper face. The lesion involved the anterior nares causing stenosis. On the buccal surface, the skin over the swelling was normal with no sinus, punctum, or ulceration. The alveolus was free of the swelling. The swelling measured in maximum dimensions. The swelling was tender, firm in consistency and the skin over it was indurated in patches with engorgement of veins (Figure 1). A differential diagnosis of odontogenic tumour, dermoid, solitary fibromatosis, gingival granular cell tumour, rhabdomyosarcoma and neurofibroma was considered. Figure 1: Clinical photograph of the patient with lesion in upper lip. Patient underwent CT scan and MRI scan which revealed soft tissue intensity lesions in the lip, orbit and submandibular region (parapharyngeal space) (Figures 2 and 3). Fine needle aspiration and biopsy from the lip lesion revealed population of round cells which were arranged in clusters as well as dispersed cell population. These cells were small with scant-to-moderate amount of cytoplasm, round-to-oval nucleus, fine chromatin, and inconspicuous nucleolus. No cytoplasmic vacuoles or rosettes were seen (Figure 4). Immunocytochemistry was put up for LCA, CD99, Desmin and Myogenin to confirm the diagnosis. Leucocyte common antigen (LCA) was strongly positive for Desmin and Myogenin (Figures 5 and 6). On the