Subependymal giant cell astrocytoma in a Jordanian family with tuberous sclerosis

ABSTRACT

Tuberous sclerosis is a genetic disease in which a variety of hamartomatous lesions arise in the nervous system and other organ systems. It is characterized clinically by the triad of adenoma sebaceum, epilepsy and mental retardation. Neurological lesions consist of cortical tubers, subependymal nodules and subependymal giant cell astrocytomas. We report a Jordanian family in which the mother and three of her male children, aged 12, 8 and 4 years, are affected by tuberous sclerosis. The two elder brothers developed subependymal giant astrocytoma in and around the foramen of Monro. The two tumours in the two brothers were almost identical in position, size and shape. Both brothers were operated upon and their tumours were excised successfully in a gross total fashion. No radiotherapy was given postoperatively. Their condition was followed for 19 years and no recurrence was seen. Tuberous sclerosis and subependymal giant cell astrocytomas are discussed. Although the incidence of tuberous sclerosis is around 1 in 10000 with 30% of cases being familial and subependymal giant cell astrocytomas occurring in about 10% of tuberous sclerosis patients, presentation of a patient with tuberous sclerosis should prompt assessment of the entire family for features of tuberous sclerosis and subependymal giant cell astrocytomas aiming for early diagnosis and treatment of such lesions