Tuberous sclerosis complex with sub-ependymal giant cell astrocytomas

摘要

Tuberous sclerosis complex (TSC) is a rare autosomal disorder that typically affects children. The manifestations of TSC include development of benign lesions in various organs, primarily in the brain, skin, kidneys, heart, and lungs. TSC management often involves multidisciplinary specialties. Herein, we present a case of a 5-year-old male patient who presented with a headache, vomiting and fever. Radiological assessment demonstrated a lobulated enhancing tumor in the right lateral ventricle near the foramen of Monro for which he underwent craniotomy (total tumor resection), which turned out to be subependymal giant cell astrocytomas upon histopathological examination. A follow-up MRI after 10 months showed cortical dysplasias, with tiny subependymal nodules. Dermatology examination revealed hypomelanotic macules, angiofibromas and shagreen patch. At his one-year follow-up, the patient exhibited normal mental and physical growth. Therefore, calling attention to TSC diagnosis and management depending upon the particular presentation may improve the quality of life of TSC patients. Highlights ? Case report of 5 year old patient with Tuberous sclerosis complex (TSC). ? Clinical workup showed presence of 6 major and no minor criteria of TCS. ? Observed features were: hypomelanotic macules, angiofibromas, shagreen patch, cortical dysplasia, subependymal nodule, SEGA. ? Particular attention to TSC diagnosis and management may improve the quality of life of TSC patients.