All issues > Volume 31(3); 1988

Original Article

J Korean Pediatr Soc. 1988;31(3):355-361. Published online March 31, 1988.

Clinical Study on 19 Cases of Neurocutaneous Syndrome in Children.

S H Lee¹, S J Kim¹, H D Cha¹, H S Kim¹, T C Kwon¹, C M Kang¹

¹Department of Pediatrics, Keimyung University, School of Medicine, Taegu, Korea

Received: November 18, 1987;

Abstract

The clinical study on 19 cases of neurocutaneous syndrome which were diagnosed at Pediatric Department of Dong San hospital, Keimyung University for last 10 years from Mar. 1975 to Feb. 1985 were performed and following results were obtained. Out of 19 cases, 11 cases were neurofibromatosis, 4 were Tuberous sclerosis and 4 were Sturge- Weber syndrome. 9 cases were male and 10 cases were female. Females were predominant in tuberous sclerosis (3:1) contrast to St urge-Weber syndrome in which male were predominant (3:1). There was no sex difference in neurofibromatosis. All cases of Tuberous sclerosis and Sturge-Weber syndrome were under the age of 10 years, while 5 cases of neurofibromatosis were above 10 years of age. The cardinal clinical signs according to frequency were cafe-au-lait spots (100%), convulsion (36%), fibroma (36%) in neurofibromatosis and convulsion (100%), hypopigmentation (100%), mental retar- dation (50%), adenoma sebaceum (50%) in Tuberous sclerosis, and convulsion (100%), portwine nevus (100%) in Sturge-Weber syndrome. Computed tomography of brain was the most important for diagnosis of neurocutaneous syndrome especially for Tuberous sclerosis and Sturge-Weber syndrome. It was done on 2 cases of Tuberous sclerosis, 2 cases of Sturge-Weber syndrome, 2 cases of neurofibromatosis and showed typical abnormal findings in all cases of tuberous sclerosis and Sturge-Weber syndrome such as per- iventricular calcification and “rail-road track pattern” respectively. Computed tomography of brain of the 2 cases of neurofibromatosis had no calcification. EEG was done 10 cases and showed abnormal findings such as grand mal, mixed type epilepsy and hypsarrhythmia in 8 cases.

Keywords :Neurocutaneous syndrome, Neurofibromatosis, Tuberous Sclerosis, Sturge-Weber syndrome