Tuberous Sclerosis in a Child

B Baghel

doi:10.3126/jnps.v32i2.5829

Abstract

A female child presented with the complaints of seizure and learning difficulties. On examination various types of skin lesion were found, including adenoma sebacum, hypomelanic macules ("ash leaf spots"), Shagreen patches. On investigation, CT scan of brain showed subepedymal nodule in walls of ventricle. B scan of eyes revealed multiple tiny nodular lesions in posterior chamber of eyes called astrocytic hamartomas (or "phakomas"). Antiepileptic drugs started, now patient is seizure free. J Nepal Paediatr Soc 2012;32(2):181-183 doi: http://dx.doi.org/10.3126/jnps.v32i2.5829

Highlights

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin
Symptomatic treatment with tab carbamazepine was started for epilepsy; the patient was not put on specific medicine for tuberous sclerosis because it is still controversial
The physical manifestations of tuberous sclerosis are due to the formation of hamartia, hamartomas and, very rarely, cancerous hamartoblastomas

Summary

Introduction

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation. The name, composed of the Latin tuber (swelling) and the Greek skleros (hard), refers to the pathological finding of thick, firm and pale gyri, called "tubers," in the brains of patients postmortem. These tubers were first described by Désiré-Magloire Bourneville in 1880; the cortical manifestations may sometimes still be known by the eponym Bourneville's disease

The Case

Findings

Discussion