Lingual hamartoma in a newborn with chromosome 2q terminal deletion

Summary Hamartoma, defined as tumour-like overgrowths of tissue, may occur in any organ in the body and is commonly seen in liver, spleen, kidney and lung, however, lingual hamartoma is a rare entity. Terminal deletion of chromosome 2q is a chromosomal abnormality causing various craniofacial malformations, and no reports can be obtained about patients who have chromosomal disorder presenting with lingual hamartoma. We describe the first case of lingual hamartoma in a patient with terminal deletion of chromosome 2, and summarize the clinical management and the histogenesis of lingual hamartoma from the literature. A 9-month-old girl who had chromosome 2q terminal deletion consulted Sapporo Medical University hospital for evaluation of upper airway obstruction. She had retractive breathing soon after birth and required treatment with continuous positive airway pressure (CPAP). Physical examination showed craniofacial abnormalities, such as round face, high palate, aural atresia, anotia and so on. Fiberoptic examination and CT scan revealed a mass on the right side of the tongue base. She underwent surgical resection and the tumour was pathologically diagnosed as hamartoma. After surgery, her respiratory condition improved to the extent where CPAP was withdrawn. There has been no tumour recurrence during the 1-year follow-up period.