Retinal Hamartomas in a case of Tuberous Sclerosis

A 21 year old male patient suffering from epilepsy came for fundoscopic evaluation. Right eye showed a flat, smooth surfaced well circumscribed, non-calcified translucent lesion of 1 disc dioptre size, inferior to the optic disc, obscuring underlying vessels & an opaque, calcified,yellow white lesion having irregular surface & margins with mulberry appearance, elevated, supero-nasal to the disc, obscuring the underlying vessels. Adenoma sebaceum, periungual fibromas, Ash leaf macules were seen on general physical examination suggestive of tuberous sclerosis. MRI brain revealed subependymal nodules & subcortical tubers. OCT showed an optically hyper reflective mass with retinal disorganization and moth eaten spaces. 2D echo showed mild LVH , diastolic dysfunction, trivial mitral and tricuspid regurgitation .USG showed fatty liver and Renal angiomyolipoma. It was interesting to note cardiac & hepatic involvement in addition to the standard TSC major & minor diagnostic criteria.

A single-center analysis of clinical features of 145 tuberous sclerosis complex—associated renal angiomyolipoma cases in China

Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with multiple organ system involvement. Renal angiomyolipoma (RAML) is a leading cause of death in TSC-adult patients. The aim of the study was to investigate the clinical features of tuberous sclerosis-associated renal angiomyolipoma among Chinese population so that clinicians can make better clinical diagnosis.Methods: Retrospective review of clinical data of 145 patients with tuberous sclerosis-associated renal angiomyolipoma treated in the Department of Urology, Peking Union Medical College Hospital from January 2014 to January 2019. Analysis of age and gender distribution, tumor stage, and combined clinical manifestations. All analyses used a significance level of 0.05 and were presented in SPSS23.0 software.Results: A total of 145 patients were enrolled. There were 51 males and 94 females. The male to female ratio was 1:1.84, with mean age of 30.50±9.79 years (range 7-58 years). 92 cases were mainly distributed in 21-40 age group, accounting for 63.45%. Among all 6 age groups, 21-30 age group contained the largest number of patients(48 case，33.10%). 86 (59.31%) renal angiomyolipoma cases were classified stage 6; 19 cases had a history of tumor rupture and hemorrhage, including 7 selective arterial embolization, 8 partial nephrectomy and 4 nephrectomy. Subependymal nodules (104/122cases, 85.24%), angiofibromas /fibrous cephalic plaque (121 cases, 83.44%), hypomelanotic macules (89 cases, 61.39%), shagreen patch (65 cases, 44.83%) and ungual fibromas (62 cases, 42.07%) were the main combined clinical manifestation. 91.30% (42/46) lymphangioleiomyomatosis cases were female.Conclusion: Patients with TSC-RAML were mainly young and middle-aged females with giant Angiomyolipoma. Most tumor were ranged in stage 5 and 6. Nervous system characteristics (subependymal nodules), dermatological lesions (angiofibromas or fibrous cephalic plaque, hypomelanotic macules, shagreen patch and ungual fibromas) were common combined clinical manifestations. Lymphangioleiomyomatosis showed an obvious difference in gender distribution

A Young Girl with Tuberous Sclerosis Presenting with Recurrent Episodes of Convulsion & Right Sided Hemiparesis

Tuberous Sclerosis Complex (TSC) is a neurocutaneous syndrome manifested by involvement of multiple system including CNS, kidney, skin, heart, lungs & eye. It is usually characterized by triad of skin lesions (96%), seizures (90%) & mental retardation (70%). Most common lesions associated with TSC are angiofibroma of face, ashleaf macules, shagreen patches, subependymal nodules, cortical tubers, mental retardation &angiomyolipoma of kidney. Here we report a case of a 14 years old girl who presented with recurrent episodes of convulsion, mental retardation & progressive weakness of right side of body. We investigated the patient to find out the etiology of her illness. After cranial imaging & other necessary investigations several major & minor criteria were established, which helped us to reach the final diagnosisJ MEDICINE July 2016; 17 (2) : 125-129