SPECTRUM OF TUBEROUS SCLEROSIS COMPLEX - CLINICAL PROFILE IN   A COHORT   OF 48 CHILDREN

Dr. Leema Pauline, Dr. Viveka Saravanan, Dr. Ravi

Dept. of Paed. Neurology, ICH&HC, Madras Medical College, Chennai

Introduction:

Tuberous sclerosis complex (TSC) is a disorder of autososmal dominant  inheritance that affects multiple organ systems. Wide phenotypic variability of clinical manifestations and severity has been noted. We present the clinical manifestations in a cohort of 48 children with Tuberous Sclerosis.

Summary:

There were 23 children(48%) in 0-2 years, 13 in 2-5 years, 12 in >5 years age group. Males predominated (62.5%). Global developmental delay was noticed in 43.7%,cognitive in 8.3%, language in 29.2%. Family history was positive in 14 (29.2%). Ten did not  have seizures. Seizures were generalised in 28.3%,  infantile spasms in 25%, partial and myoclonic in 12.5% each, atonic in 4.2%,multiple seizure types in 10.4%. Skin manifestations included hypomelanotic macules in 47(97.9%), facial angiofibromas in 27.1%, shagreen patch in 16.7%. Mental subnormality was noticed in 40%, behavioural problems in 29.2%. Neuroimaging showed subependymal nodules in 43(89.6%), cortical tubers in 43.8%, giant cell astrocytoma in one. Cardiac rhabdomyomas noted in 18(37.5%), retinal hamartomas in 8(16.7%). Three had multiple cysts in the kidneys. Five were diagnosed in the newborn period itself from the cardiac rhabdomyomas detected antenatally. Seizures were refractory in 31.6%.

Conclusion:

Tuberous Sclerosis complex has to be thought of in the clinical settings of epilepsy, developmental delay, mental retardation, behavioural problems.