English

Abstract

Tuberous sclerosis (TS) Epiloia Or Bournervlle’s Disease is one of the important neurocutaneous syndrome characterized by abnormalities of both the integument and centre nervous system (CNS) with an estimated frequency of 1/6000 (1-4).We report a case of a 10 yr old male child who presented to the department of dermatology with complaint of multiple nodular lesions on the face. He was referred to the department of radiodiagnosis for imaging evaluation and was diagnosed as a case of tuberous sclerosis. INTRODUCTION: Von Recklinghausen first described tuberous sclerosis in 1862. Desire-Magloire Bourneville (a French physician) coined the term sclerose tubereuse, from which the name of the disease has evolved. Sherlock coined the term EPILOIA encompassing the clinical triad of tuberous sclerosis (Epi: epilepsy, Loi: low intelligence, A: adenoma sebaceum). As the manifestations of the disease are variegated in nature, the term tuberous sclerosis complex (TSC) is now widely used. It is an autosomal dominant inherited disease, being associated with at least two separate chromosomes (TSC1, found on chromosome 9q34, and TSC2, on chromosome 16p3)5. Clinical diagnosis is easy when the patient presents with classical triad of seizures, mental retardation and adenoma sebaceum. However, in a patient presenting with an incomplete form of tuberous sclerosis, mistakes in the diagnosis are possible. We report a case of 10 years old male child who presented with dermatological lesions and on evaluation was found to be a case of tuberous sclerosis. The importance of recognition of features of this rare syndrome is stressed.6 CASE REPORT: A 10 year old male child presented with a chief complaint of multiple nodular lesions on the cheeks. On clinical examination, lesions were hyperpigmented and raised from the skin surface known as adenoma sebaceum (Fig.1). Ash leaf spots were seen on the forehead of the child as depigmented lesions (Fig.2). Shagreen patches were also observed at the lower back in the lower lumbar region appearing as light yellow colored thickened nodules (Fig.3). Child was performing poorly in the school and he was unable to solve simple mathematical calculations. There was no history of seizures. Routine biochemical investigations were normal. MRI of the brain was done which showed multiple small nodular lesions along the ependymal surface of both the lateral ventricles appearing hypointense on T2WI (Fig. 4) and isointense on T1WI (Fig. 5).Some of the lesions showed blooming on T2FFE sequence (Fig. 6) and showing calcification on NCCT images (Fig. 7).Post contrast T1WI sequences showed moderate to avid enhancement of the nodular lesions; however the calcified lesions did not enhance (Fig. 8). There was also evidence of multiple ill defined scattered areas of increased signal intensity on T2WI and FLAIR images in the cortical and subcortical locations of bilateral cerebral hemispheres (Figs. 9-12). Few thin linear subcortical hyperintensities were also observed extending medially upto the ependyma of the lateral ventricle (Fig. 11).