Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome

785 weighted sequences with a reduction of the nonhomogeneous internal signal sequences obtained with the suppression of the fat signal with modest and nuanced post-contrast enhancement. A preliminary diagnosis of multiple lipomatosis was taken. The procedure was performed under general anesthesia. A double surgical access was adopted: 1) the first, in the nuchal region, with enucleation en bloc of the swelling, which was partly submuscular; and 2) the second, in the dorsal region, created by using a tumescent liposuction technique through two incisions of 3 mm each with a drawing of about 600 mL of blood serum-fat emulsion. The residual fatty emulsion was injected in the subsidence of the left temporo-zygomatic region. The postoperative course was uneventful with good healing of the surgical wounds. A histological examination of the nuchal mass and the dorsal liposuction confirmed the tissue as benign lipoma and lipomatosis tissue. The follow-up at 6 months was negative for the recurrence of the disease (Figs. 4, 5). In order to document the presence of retinoblastoma, multiple endocrine neoplasia (MEN) 1 and lipomatosis were evaluated with an preoperative genetic exam to confirm the diagnosis of this rare and complex syndrome; in fact, hereditary predisposition to lipomas is observed in familial multiple lipomatosis and benign cervical lipomatosis (and can also be associated with mutations in the MEN1 and phosphatase and TENsin homolog A 43-year-old man, Caucasian, was admitted to our unit with a lump extending from the nape of the neck to the dorsal region between the shoulders (Figs. 1, 2). This mass had first appeared about 10 years prior to presentation at our institution and had since been increasing gradually in size. The patient had a history of hereditary bilateral retinoblastoma treated at the age of 1 year by enucleation of the right eye and radiation therapy on the contralateral eye; at the age of 18 years, recurrence of disease in the left temporo-zygomatic region was disposed and treated with radiation therapy and chemotherapy. Since then until recently, there had been no signs of recurrence. At physical examination, lower neck swelling was detected with poorly defined margins, soft-elastic consistency, little shifting, and no signs of inflammation or pain. Magnetic resonance imaging (MRI) (Fig. 3) revealed a significant thickening of the subcutaneous fat from the nape of the neck to the dorsal region between the shoulders, with two notable masses: the cranial, which measured 2.4 cm × 5 cm × 8 cm and the distal, in the dorsal region, 6.5 cm × 12 cm × 8 cm. These formations, both well-encapsulated, had homogeneous hyperintense signals in the T1and T2Fig. 1. Preoperative situation. Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome