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Yolk Sac Tumors of the Head and Neck in Aicardi Syndrome

Objectives: To understand that yolk sac tumors (YSTs) of the head and neck (H&N) are exceedingly rare and typically carry a poor prognosis. To acknowledge the possibility of increased incidence in patients with Aicardi Syndrome and the ramifications this has on early diagnosis and treatment in this population. Methods: To date, four germ cells tumors of the H&N have been reported in patients with Aicardi Syndrome. This report presents the second known case of a H&N YST in a patient with Aicardi syndrome. In both cases, the patient was initially misdiagnosed given unconvincing radiologic evidence. However, tissue diagnosis and elevated alpha-fetoprotein (AFP) levels were suggestive of a YST. Results: In contrast to the poor prognosis previously described, both patients with Aicardi syndrome had an excellent chemotherapeutic response exhibited by normalization of AFP levels and imaging. Conclusions: Rare germ cell tumors of the H&N, such as YSTs, have now been documented in several patients with Aicardi syndrome, indicating a possible association given the rarity of these tumors in the population. YSTs should be considered in the differential diagnosis of H&N masses in these patients, with emphasis on early tissue diagnosis and treatment.