Child, Preschool ; Disease Susceptibility ; Female ; Humans ; Neoplasms ; complications ; Proteus Syndrome ; complications

The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patient with Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledema and myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma, macrodactyly, and asymmetry of the limbs were observed on systemic examination. A cavernoma was also detected in magnetic resonance imaging of the brain. The patient underwent bilateral goniotomy surgery due to glaucoma. The surgical outcomes were satisfactory in both eyes. In conclusions developmental glaucoma and pseudopapilledema might be associated with Proteus syndrome.
Child, Preschool ; Disease Progression ; Glaucoma/diagnosis/*etiology/physiopathology ; Humans ; Intraocular Pressure/*physiology ; Magnetic Resonance Imaging/*methods ; Male ; Proteus Syndrome/*complications

OBJECTIVETo investigate the clinical manifestations, pathologic features and laboratory findings in two Proteus syndrome patients with giant hemangiomas in the spleen and chronic DIC.

METHODSUltrasound imaging and magnetic resonance imaging (MRI) were used for analysing the characteristics of the giant hemangiomas in the spleen. The spleen specimen was examined pathologically for the feature of the hemangioma. Homostatic tests were performed by routine laboratory methods.

RESULTSTwo Proteus syndrome patients with giant hemangiomas in the spleen causing chronic DIC (Kasabach-Merritt syndrome) were first reported. They were recovered after splenectomy.

CONCLUSIONProteus syndrome when accompanied giant hemangioma could cause chronic DIC. Significantly decreased plasma fibrinogen level in this case might be helpful for the differential diagnosis from DIC caused by other diseases.

Adolescent ; Disseminated Intravascular Coagulation ; etiology ; Female ; Hemangioma, Cavernous ; complications ; diagnostic imaging ; surgery ; Humans ; Proteus Syndrome ; complications ; Splenectomy ; Splenic Neoplasms ; complications ; diagnostic imaging ; surgery ; Ultrasonography