OCULAR FINDINGS OF TUBEROUS SCLEROSIS – A CASE REPORT

The term “Neurocutaneous syndromes” also known as Phakomatoses refers to a broadcategory of congenital diseases that includes anomalies of neuroectodermal and occasionallymesodermal development, hence commonly involving the skin, eyes and central nervoussystem. The term Phacomatoses was coined by Van Der Hoeve in 1921. Tuberous sclerosisis one type of Neurocutaneous syndromes. The word "tuberous sclerosis" comes from thedistinctive cortical tubers that Désiré-Magloire first described. Tuberous sclerosis is ahereditary disorder that affects numerous body systems. A 30 year old female diagnosed asTuberous sclerosis was referred by Dermatology Department. Detailed ophthalmicexamination was done. Patient was diagnosed with Adenoma sebaceum of upper eyelids inboth eyes and multiple retinal hamartoma in left eye.

Two Cases of Tuberous Sclerosis Associated with Subependymal Giant Cell Astrocytoma

Neurosurgical intervention in the syndrome is discussed in the light of two recently treated cases, one of which was admitted due to acute hydrocephalic attack, the other was confirmed by the typical computed tomographic findings as well as the classic triad of adenoma sebaceum, mental retardation and epilepsy. There cases had no family historty and were probably the result of new mutations and variable penetrance. Transcallosal microsurgical excision of tumor was accomplished in both cases and subependymal giant cell astrocytoma was confirmed. The hydrocephalus resolved but subduroperitoneal shunt was required in one case.

A Case of Subependymal Giant Cell Astrocytoma associated with Tuberous Sclerosis(Case Report)

Subependymal giant cell astrocytoma is a very rare cerebral glioma and is known to be usually associated with tuberous sclerosis. We experienced a case of this tumor occurred at the wall of both lateral ventricles near the foramen of Monro in a patient of tuberous sclerosis who had symtoms and signs of hydrocephalus and other complex manifestations of facial adenoma sebaceum, huge fibroma on occipital scalp and hamartoma on the right retina. The masses were removed completely through transcallosal approach with microsurgical technique. The literatures are also reviewed.

Tuberous Sclerosis

A case of the tuberous sclerosis, 14-years old boy, was observed. In his father and sister, the cerebral tubers were noted by brain computerized tomography. This disease has been reported occasionally in dermatologic and psychiatric department because of adenoma sebaceum, mental retardation and epilepsy respectively, but it has not been reported at neurosurgical department in Korea. The histopathology of the brain lesion showed atypical cell(tuberous sclerosis cell), gliosis and nonspecific calcification which confirmed the diagnosis of tuberous sclerosis.