Gorlin Syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition characterized by developmental abnormalities and predisposition to certain neoplasms. Acute invasive fungal rhinosinusitis (AIFRS) is an uncommon clinical entity characterized by high morbidity and mortality. In immunocompromised patients, computed tomography plays a critical role in screening for suspected AIFRS. However, due to the association between exposure to ionizing radiation and subsequent development of malignancies in patients with GS, patients with GS and suspected AIFRS present a unique and challenging clinical scenario. We present a case of a pediatric patient with GS and acute lymphocytic leukemia (ALL) diagnosed with AIFRS; to the best of our knowledge, it is the only case described in the literature. 1. Introduction Acute invasive fungal rhinosinusitis (AIFRS) is a serious condition characterized by high morbidity and a high mortality rate of 50%–80% in immunocompromised patients [1]. Due to the need for expeditious imaging in suspected cases to assist in diagnosis and management, CT is often used as the initial diagnostic modality, though magnetic resonance imaging (MRI) plays a critical role in the diagnosis of AIFRS [2]. Gorlin Syndrome (GS) is a rare autosomal dominant condition characterized by multiple basal cell carcinomas of the skin, odontogenic keratocysts, dermoid cysts, mesenteric cysts, pits of the palms and soles, eye anomalies, variable developmental delay, and skeletal abnormalities including macrocephaly, tall stature, and rib and vertebral anomalies [3, 4]. Gorlin Syndrome is due to a mutation in PTCH1, a tumor suppressor gene involved in the Sonic Hedgehog ligand-signaling pathway that plays a role in normal embryonic development [4]. Loss of heterozygosity due to this mutation predisposes patients to the characteristic features of the syndrome, as well as medulloblastomas, rhabdomyosarcomas and other cancers [4, 5]. Because exposure to ionizing radiation is an important cofactor for secondary malignancies in patients with GS, CT and X-ray should be used judiciously in these patients [6]. Thus, screening as well as diagnostic testing for fungal sinus disease presents a particular challenge in these patients. We present a case of a pediatric patient with GS and ALL diagnosed with AIFRS. We discuss the special considerations of this case, in addition to the characteristics of Gorlin Syndrome as they apply to the otolaryngologist, the clinical and radiographic findings of AIFRS, and role of imaging in the
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