Leptomeningeal Melanoma With Foci of Rhabdomyosarcoma in an Infant With Giant Congenital NeviA Case Report and Literature Review

摘要

Leptomeningeal melanoma is a rare and uniformly fatal disease in children. We report a case of a 9-month old girl with a giant congenital nevus and multiple additional nevi who was diagnosed with leptomeningeal melanoma with foci of rhabdomyosarcoma after presenting with vomiting, lethargy, fussiness, downward gaze, and increasing head size. She was treated with chemotherapy; however, she continued to decline and 3 1/2 months later died of disease. Her clinical course, pathology, and radiology are presented here, along with a review of the literature.The patient was a previously healthy Hispanic female who had been born at term after an uncomplicated pregnancy and delivery. The patient was developing normally until 6 months of age when she had progressive irritability, emesis for 1 week, increased somnolence for 2 days, and poor upward gaze for 1 day. Her review of systems was otherwise notable for having had just completed oral antibiotics for otitis media. She had a large light tan birthmark over her midlower back which her mother had been told was a Mongolian spot (Fig. 1). Past medical history was unremarkable. Family history revealed an uncle with hydrocephalus. In the Emergency Department, her physical examination showed a bulging, tense anterior fontanelle, bilateral esotropia, and quietness alternating with irritability. Nonconrrasted and contrasted cranial computed tomography (CT) scans showed marked enlargement of all ventricles and tran-sependymal fluid absorption. Communicating hydrocephalus of unknown etiology was diagnosed, and intraventricular shunt placement resulted in significant clinical improvement.