INTRODUCTION: Hemangiomas including liver hemangiomas are benign vascular tumors that are generally observed during infancy, and can be congenital. Although Sepulveda and colleagues emphasized that hepatic hemangioma are the most common tumor of the liver during childhood, the association with Esquirol-Seguin-Down syndrome has not been reported in the literature.
PATIENTS AND METHODS: A female infant with Esquirol-SeguinDown syndrome and abnormal abdominal sound was studied.
RESULTS: Dysmorphic features included oblique eye fissures, depressed nasal bridge, low set ears, small mouth, and protruded tongue. Ultrasound examination showed hepatic hemangioma.
DISCUSSION: Esquirol-Séguin-Down syndrome (Trisomy 21) was first described by Jean-Etienne Dominique Esquirol in 1838 and later by Edouard Séguin in 1846. Thereafter, in 1862, John Langdon Down, a British physician, emphasized that the syndrome is a distinct form of mental retardation. The syndrome was recognized as a chromosome 21 trisomy by Dr Jérôme Lejeune in 1959, and the condition became known as trisomy.
CONCLUSION: In this paper, the first case of Esquirol-SeguinDown syndrome associated with hepatic hemangiomas is reported.
