Neuropediatrics 2006; 37 - TP81
DOI: 10.1055/s-2006-945674

TUBEROUS SCLEROSIS – COMPARATIVE CLINICAL STUDY OF CHILDREN WITH OR WITHOUT SUBEPENDIMAL GIANT CELL ASTROCYTOMA

N Jovic 1, D Grujicic 2, D Karaklic 1
  • 1Clinic of Neurology and Psychiatry for Children and Youth
  • 2Institute of Neurosurgery, Clinical Centre of Serbia, Belgrade, Serbia, Serbia and Montenegro

Objectives: We compared the clinical characteristics in children with tuberous sclerosis complex (TSC) without or having subependymal giant cell astrocytoma (SEGA).

Methods: In a group of 73 children and adolescents (32 male, 41 female) with definite diagnosis of TSC, 11 (5 male, 6 female) patients had SEGA with postoperative histological confirmation. Patients with SEGA were aged 12.8 to 24 years (median 16.3) with mean age of SEGA diagnosis of 11.4 years. Children without SEGA were aged 1 month to 25 years (median 8.5). Sporadic cases accounted for 70.2% patients. Two cases with obstructive hydrocephalus and raised intracranial pressure were seen. Mean clinical follow-up was 6.7 years without tumor and 9.4 years for patients with SEGA.

Results: Seizures occurred in 90.3% non- SEGA patients, and in all children with SEGA. The age of seizure onset in patients with SEGA was 4.4 (range: 1.5–16.9). When compared with SEGA group, first seizure occurred earlier (2.4 years, range 0.3–15.2) in patients without tumor. Focal seizures occurred in all but one patient with SEGA. Infantile spasms were diagnosed in one case. Non-SEGA patients had focal epilepsy in 37.5%, till infantile spasms were diagnosed in 48.2% patients. Favorable, long-term seizure control was achieved in three SEGA patients only, when compared with 58.9% of patients with TSC without tumor. Mental insufficiency was observed in all SEGA patients and in 67.7% children with TSC without tumor. Renal angiomyolipoma and cardiac rhabdomyoma developed in 40.3% and in 35.5% of children without SEGA. These lesions were diagnosed in only one SEGA patient. All patients with SEGA presented with facial angiofibromas, appeared later (mean 8.3 years), when compared with non-SEGA children (61.3%) whose facial lesions were diagnosed in 61.3% and appeared earlier (mean 5.5 years). Gingival fibromas developed in 63.5% patients with SEGA, vs. 11.3% in a non-SEGA group.

Conclusion: Vogt triad seems to be rather characteristic for TSC patients with SEGA than for these without tumor. Seizures, mainly focal, intractable and with later onset occurred in all patients with SEGA. Surgical removal of SEGA did not appear to significantly improve epilepsy course.