[Intracranial hypertension in Proteus syndrome]

Proteus syndrome, described for the first time in 1979, is a sporadic congenital poly-malformation syndrome named for its highly variable manifestations. We report the case of a 36-year-old male patient with several malformations including skull hyperostosis and huge frontal sinus hypertrophy compressing the brain. He complained of increasing headache for 5 years. Cerebrospinal fluid pressure monitoring revealed severe hypertension. The patient underwent frontoparietal craniectomy, which allowed partial decompression. Postoperatively headaches decreased and the intracranial pressure normalized. Proteus syndrome is a genetic disease with a mosaic pattern. Only a hundred cases have been reported, mostly in childhood. Common manifestations include disproportionate overgrowth of the limbs and the skull, various subcutaneous tumors, vascular, renal and pulmonary malformations. Brain abnormalities are not common in this syndrome. When present, retardation or seizure disorders are typically seen. Intracranial hypertension is described for the first time in this syndrome.