[A case of Maffucci's syndrome with brain-stem tumor]

A case of Maffucci's syndrome with brain-stem tumor is reported. A 17-year-old man with a history of diplopia and unsteady gait for 5 months was admitted to our hospital on May 6, 1987. Neurological findings on admission disclosed left VIIth cranial nerve and bilateral VIIth nerve palsies and mild quadriplegia with a bilateral Babinski sign. His left limbs were deformed and disproportionally shortened since birth, and there were multiple enchondroma of the phalanges. Several bluish subcutaneous soft tumors were present on his left hand. Histological examination of a skin lesion confirmed the cavernous hemangioma. A CT scan showed diffuse symmetrical low density area in the brain-stem. No contrast enhancement was noted. Sagittal magnetic resonance imaging (MRI) demonstrated swelling of the brain stem especially in the pons and medulla oblongata. Left vertebral angiogram showed an avascular mass in the region brain stem. Brain-stem glioma being strongly suspected, both radiation therapy and chemotherapy were performed. After 66 Gy irradiation and ACNU administration, his neurological deficits gradually improved. The patient was discharged from the hospital on foot on August 7, 1987. The sagittal MRI taken on January 24, 1988 disclosed that the brain-stem swelling was apparently diminished. Maffucci's syndrome is a congenital, non-hereditary mesodermal dysplasia associated with multiple enchondromas and subcutaneous hemangioma. Although numerous tumors of the central nervous system have been described in association with Maffucci's syndrome, to our knowledge, no mention has been made of lesions in the brain-stem. The present case is an extremely rare instance of this syndrome complicated by the occurrence of a brain-stem tumor.